Results

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000714018	RYR2	Benign	9\|91	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000714019	RYR2	Benign	9\|91	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000714021	RYR2	Benign	9\|91	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000714022	RYR2	Benign	9\|91	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000366574(MANE Select)	RYR2	Benign	34\|66	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000661330	RYR2	Benign	34\|66	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000659194	RYR2	Benign	42\|58	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000660292	RYR2	Benign	44\|56	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

Variant:

1:237706987A>G_5_ENST00000714018

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 9|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714018.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9508A>G
g.664804A>G

AA changes

AAE:	N3170D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3170	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3170	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GYLCCLSTSR SSTDKLAFDV GLQEDTTGEA
CWWTIHPASK QRSEGEKVRV GDDLILVSVS SERYLHLSYG NGSLHVDAAF QQTLWSVAPI
SSGSEAAQGY LIGGDVLRLL HGHMDECLTV PSGEHGEEQR RTVHYEGGAV SVHARSLWRL
ETLRVAWSGS HIRWGQPFRL RHVTTGKYLS LMEDKNLLLM DKEKADVKST AFTFRSSKEK
LDVGVRKEVD GMGTSEIKYG DSVCYIQHVD TGLWLTYQSV DVKSVRMGSI QRKAIMHHEG
HMDDGISLSR SQHEESRTAR VIRSTVFLFN RFIRGLDALS KKAKASTVDL PIESVSLSLQ
DLIGYFHPPD EHLEHEDKQN RLRALKNRQN LFQEEGMINL VLECIDRLHV YSSAAHFADV
AGREAGESWK SILNSLYELL AALIRGNRKN CAQFSGSLDW LISRLERLEA SSGILEVLHC
VLVESPEALN IIKEGHIKSI ISLLDKHGRN HKVLDVLCSL CVCHGVAVRS NQHLICDNLL
PGRDLLLQTR LVNHVSSMRP NIFLGVSEGS AQYKKWYYEL MVDHTEPFVT AEATHLRVGW
ASTEGYSPYP GGGEEWGGNG VGDDLFSYGF DGLHLWSGCI ARTVSSPNQH LLRTDDVISC
CLDLSAPSIS FRINGQPVQG MFENFNIDGL FFPVVSFSAG IKVRFLLGGR HGEFKFLPPP
GYAPCYEAVL PKEKLKVEHS REYKQERTYT RDLLGPTVSL TQAAFTPIPV DTSQIVLPPH
LERIREKLAE NIHELWVMNK IELGWQYGPV RDDNKRQHPC LVEFSKLPEQ ERNYNLQMSL
ETLKTLLALG CHVGISDEHA EDKVKKMKLP KNYQLTSGYK PAPMDLSFIK LTPSQEAMVD
KLAENAHNVW ARDRIRQGWT YGIQQDVKNR RNPRLVPYTL LDDRTKKSNK DSLREAVRTL
LGYGYNLEAP DQDHAARAEV CSGTGERFRI FRAEKTYAVK AGRWYFEFET VTAGDMRVGW
SRPGCQPDQE LGSDERAFAF DGFKAQRWHQ GNEHYGRSWQ AGDVVGCMVD MNEHTMMFTL
NGEILLDDSG SELAFKDFDV GDGFIPVCSL GVAQVGRMNF GKDVSTLKYF TICGLQEGYE
PFAVNTNRDI TMWLSKRLPQ FLQVPSNHEH IEVTRIDGTI DSSPCLKVTQ KSFGSQNSNT
DIMFYRLSMP IECAEVFSKT VAGGLPGAGL FGPKNDLEDY DADSDFEVLM KTAHGHLVPD
RVDKDKEATK PEFNNHKDYA QEKPSRLKQR FLLRRTKPDY STSHSARLTE DVLADDRDDY
DFLMQTSTYY YSVRIFPGQE PANVWVGWIT SDFHQYDTGF DLDRVRTVTV TLGDEKGKVH
ESIKRSNCYM VCAGESMSPG QGRNNNGLEI GCVVDAASGL LTFIANGKEL STYYQVEPST
KLFPAVFAQA TSPNVFQFEL GRIKNVMPLS AGLFKSEHKN PVPQCPPRLH VQFLSHVLWS
RMPNQFLKVD VSRISERQGW LVQCLDPLQF MSLHIPEENR SVDILELTEQ EELLKFHYHT
LRLYSAVCAL GNHRVAHALC SHVDEPQLLY AIENKYMPGL LRAGYYDLLI DIHLSSYATA
RLMMNNEYIV PMTEETKSIT LFPDENKKHG LPGIGLSTSL RPRMQFSSPS FVSISNECYQ
YSPEFPLDIL KSKTIQMLTE AVKEGSLHAR DPVGGTTEFL FVPLIKLFYT LLIMGIFHNE
DLKHILQLIE PSVFKEAATP EEESDTLEKE LSVDDAKLQG AGEEEAKGGK RPKEGLLQMK
LPEPVKLQMC LLLQYLCDCQ VRHRIEAIVA FSDDFVAKLQ DNQRFRYNEV MQALNMSAAL
TARKTKEFRS PPQEQINMLL NFKDDKSECP CPEEIRDQLL DFHEDLMTHC GIELDEDGSL
DGNSDLTIRG RLLSLVEKVT YLKKKQAEKP VESDSKKSST LQQLISETMV RWAQESVIED
PELVRAMFVL LHRQYDGIGG LVRALPKTYT INGVSVEDTI NLLASLGQIR SLLSVRMGKE
EEKLMIRGLG DIMNNKVFYQ HPNLMRALGM HETVMEVMVN VLGGGESKEI TFPKMVANCC
RFLCYFCRIS RQNQKAMFDH LSYLLENSSV GLASPAMRGS TPLDVAAASV MDNNELALAL
REPDLEKVVR YLAGCGLQSC QMLVSKGYPD IGWNPVEGER YLDFLRFAVF CNGESVEENA
NVVVRLLIRR PECFGPALRG EGGNGLLAAM EEAIKIAEDP SRDGPSPNSG SSKTLDTEEE
EDDTIHMGNA IMTFYSALID LLGRCAPEMH LIHAGKGEAI RIRSILRSLI PLGDLVGVIS
IAFQMPTIAK DGNVVEPDMS AGFCPDHKAA MVLFLDRVYG IEVQDFLLHL LEVGFLPDLR
AAASLDTAAL SATDMALALN RYLCTAVLPL LTRCAPLFAG TEHHASLIDS LLHTVYRLSK
GCSLTKAQRD SIEVCLLSIC GQLRPSMMQH LLRRLVFDVP LLNEHAKMPL KLLTNHYERC
WKYYCLPGGW GNFGAASEEE LHLSRKLFWG IFDALSQKKY EQELFKLALP CLSAVAGALP
PDYMESNYVS MMEKQSSMDS EGNFNPQPVD TSNITIPEKL EYFINKYAEH SHDKWSMDKL
ANGWIYGEIY SDSSKVQPLM KPYKLLSEKE KEIYRWPIKE SLKTMLAWGW RIERTREGDS
MALYNRTRRI SQTSQVSVDA AHGYSPRAID MSNVTLSRDL HAMAEMMAEN YHNIWAKKKK
MELESKGGGN HPLLVPYDTL TAKEKAKDRE KAQDILKFLQ INGYAVSRGF KDLELDTPSI
EKRFAYSFLQ QLIRYVDEAH QYILEFDGGS RGKGEHFPYE QEIKFFAKVV LPLIDQYFKN
HRLYFLSAAS RPLCSGGHAS NKEKEMVTSL FCKLGVLVRH RISLFGNDAT SIVNCLHILG
QTLDARTVMK TGLESVKSAL RAFLDNAAED LEKTMENLKQ GQFTHTRNQP KGVTQIINYT
TVALLPMLSS LFEHIGQHQF GEDLILEDVQ VSCYRILTSL YALGTSKSIY VERQRSALGE
CLAAFAGAFP VAFLETHLDK HNIYSIYNTK SSRERAALSL PTNVEDVCPN IPSLEKLMEE
IVELAESGIR YTQMPHVMEV ILPMLCSYMS RWWEHGPENN PERAEMCCTA LNSEHMNTLL
GNILKIIYNN LGIDEGAWMK RLAVFSQPII NKVKPQLLKT HFLPLMEKLK KKAATVVSEE
DHLKAEARGD MSEAELLILD EFTTLARDLY AFYPLLIRFV DYNRAKWLKE PNPEAEELFR
MVAEVFIYWS KSHNFKREEQ NFVVQNEINN MSFLITDTKS KMSKAAVSDQ ERKKMKRKGD
RYSMQTSLIV AALKRLLPIG LNICAPGDQE LIALAKNRFS LKDTEDEVRD IIRSNIHLQG
KLEDPAIRWQ MALYKDLPNR TDDTSDPEKT VERVLDIANV LFHLEQKSKR VGRRHYCLVE
HPQRSKKAVW HKLLSKQRKR AVVACFRMAP LYNLPRHRAV NLFLQGYEKS WIETEEHYFE
DKLIEDLAKP GAEPPEEDEG TKRVDPLHQL ILLFSRTALT EKCKLEEDFL YMAYADIMAK
SCHDEEDDDG EEEVKSFEEK EMEKQKLLYQ QARLHDRGAA EMVLQTISAS KGETGPMVAA
TLKLGIAILN GGNSTVQQKM LDYLKEKKDV GFFQSLAGLM QSCSVLDLNA FERQNKAEGL
GMVTEEGSGE KVLQDDEFTC DLFRFLQLLC EGHNSDFQNY LRTQTGNNTT VNIIISTVDY
LLRVQESISD FYWYYSGKDV IDEQGQRNFS KAIQVAKQVF NTLTEYIQGP CTGNQQSLAH
SRLWDAVVGF LHVFAHMQMK LSQDSSQIEL LKELMDLQKD MVVMLLSMLE GNVVNGTIGK
QMVDMLVESS NNVEMILKFF DMFLKLKDLT SSDTFKEYDP DGKGVISKRD FHKAMESHKH
YTQSETEFLL SCAETDENET LDYEEFVKRF HEPAKDIGFN VAVLLTNLSE HMPNDTRLQT
FLELAESVLN YFQPFLGRIE IMGSAKRIER VYFEISESSR TQWEKPQVKE SKRQFIFDVV
NEGGEKEKME LFVNFCEDTI FEMQLAAQIS ESDLNERSAN KEESEKERPE EQGPRMAFFS
ILTVRSALFA LRYNILTLMR MLSLKSLKKQ MKKVKKMTVK DMVTAFFSSY WSIFMTLLHF
VASVFRGFFR IICSLLLGGS LVEGAKKIKV AELLANMPDP TQDEVRGDGE EGERKPLEAA
LPSEDLTDLK ELTEESDLLS DIFGLDLKRE GGQYKLIPHN PNAGLSDLMS NPVPMPEVQE
KFQEQKAKEE EKEEKEETKS EPEKAEGEDG EKEEKAKEDK GKQKLRQLHT HRYGEPEVPE
SAFWKKIIAY QQKLLNYFAR NFYNMRMLAL FVAFAINFIL LFYKVSTSSV VEGKELPTRS
SSENAKVTSL DSSSHRIIAV HYVLEESSGY MEPTLRILAI LHTVISFFCI IGYYCLKVPL
VIFKREKEVA RKLEFDGLYI TEQPSEDDIK GQWDRLVINT QSFPNNYWDK FVKRKVMDKY
GEFYGRDRIS ELLGMDKAAL DFSDAREKKK PKKDSSLSAV LNSIDVKYQM WKLGVVFTDN
SFLYLAWYMT MSVLGHYNNF FFAAHLLDIA MGFKTLRTIL SSVTHNGKQL VLTVGLLAVV
VYLYTVVAFN FFRKFYNKSE DGDTPDMKCD DMLTCYMFHM YVGVRAGGGI GDEIEDPAGD
EYEIYRIIFD ITFFFFVIVI LLAIIQGLII DAFGELRDQQ EQVKEDMETK CFICGIGNDY
FDTVPHGFET HTLQEHNLAN YLFFLMYLIN KDETEHTGQE SYVWKMYQER CWEFFPAGDC
FRKQYEDQLN *

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GYLCCLSTSR SSTDKLAFDV GLQEDTTGEA
CWWTIHPASK QRSEGEKVRV GDDLILVSVS SERYLHLSYG NGSLHVDAAF QQTLWSVAPI
SSGSEAAQGY LIGGDVLRLL HGHMDECLTV PSGEHGEEQR RTVHYEGGAV SVHARSLWRL
ETLRVAWSGS HIRWGQPFRL RHVTTGKYLS LMEDKNLLLM DKEKADVKST AFTFRSSKEK
LDVGVRKEVD GMGTSEIKYG DSVCYIQHVD TGLWLTYQSV DVKSVRMGSI QRKAIMHHEG
HMDDGISLSR SQHEESRTAR VIRSTVFLFN RFIRGLDALS KKAKASTVDL PIESVSLSLQ
DLIGYFHPPD EHLEHEDKQN RLRALKNRQN LFQEEGMINL VLECIDRLHV YSSAAHFADV
AGREAGESWK SILNSLYELL AALIRGNRKN CAQFSGSLDW LISRLERLEA SSGILEVLHC
VLVESPEALN IIKEGHIKSI ISLLDKHGRN HKVLDVLCSL CVCHGVAVRS NQHLICDNLL
PGRDLLLQTR LVNHVSSMRP NIFLGVSEGS AQYKKWYYEL MVDHTEPFVT AEATHLRVGW
ASTEGYSPYP GGGEEWGGNG VGDDLFSYGF DGLHLWSGCI ARTVSSPNQH LLRTDDVISC
CLDLSAPSIS FRINGQPVQG MFENFNIDGL FFPVVSFSAG IKVRFLLGGR HGEFKFLPPP
GYAPCYEAVL PKEKLKVEHS REYKQERTYT RDLLGPTVSL TQAAFTPIPV DTSQIVLPPH
LERIREKLAE NIHELWVMNK IELGWQYGPV RDDNKRQHPC LVEFSKLPEQ ERNYNLQMSL
ETLKTLLALG CHVGISDEHA EDKVKKMKLP KNYQLTSGYK PAPMDLSFIK LTPSQEAMVD
KLAENAHNVW ARDRIRQGWT YGIQQDVKNR RNPRLVPYTL LDDRTKKSNK DSLREAVRTL
LGYGYNLEAP DQDHAARAEV CSGTGERFRI FRAEKTYAVK AGRWYFEFET VTAGDMRVGW
SRPGCQPDQE LGSDERAFAF DGFKAQRWHQ GNEHYGRSWQ AGDVVGCMVD MNEHTMMFTL
NGEILLDDSG SELAFKDFDV GDGFIPVCSL GVAQVGRMNF GKDVSTLKYF TICGLQEGYE
PFAVNTNRDI TMWLSKRLPQ FLQVPSNHEH IEVTRIDGTI DSSPCLKVTQ KSFGSQNSNT
DIMFYRLSMP IECAEVFSKT VAGGLPGAGL FGPKNDLEDY DADSDFEVLM KTAHGHLVPD
RVDKDKEATK PEFNNHKDYA QEKPSRLKQR FLLRRTKPDY STSHSARLTE DVLADDRDDY
DFLMQTSTYY YSVRIFPGQE PANVWVGWIT SDFHQYDTGF DLDRVRTVTV TLGDEKGKVH
ESIKRSNCYM VCAGESMSPG QGRNNNGLEI GCVVDAASGL LTFIANGKEL STYYQVEPST
KLFPAVFAQA TSPNVFQFEL GRIKNVMPLS AGLFKSEHKN PVPQCPPRLH VQFLSHVLWS
RMPNQFLKVD VSRISERQGW LVQCLDPLQF MSLHIPEENR SVDILELTEQ EELLKFHYHT
LRLYSAVCAL GNHRVAHALC SHVDEPQLLY AIENKYMPGL LRAGYYDLLI DIHLSSYATA
RLMMNNEYIV PMTEETKSIT LFPDENKKHG LPGIGLSTSL RPRMQFSSPS FVSISNECYQ
YSPEFPLDIL KSKTIQMLTE AVKEGSLHAR DPVGGTTEFL FVPLIKLFYT LLIMGIFHNE
DLKHILQLIE PSVFKEAATP EEESDTLEKE LSVDDAKLQG AGEEEAKGGK RPKEGLLQMK
LPEPVKLQMC LLLQYLCDCQ VRHRIEAIVA FSDDFVAKLQ DNQRFRYNEV MQALNMSAAL
TARKTKEFRS PPQEQINMLL NFKDDKSECP CPEEIRDQLL DFHEDLMTHC GIELDEDGSL
DGNSDLTIRG RLLSLVEKVT YLKKKQAEKP VESDSKKSST LQQLISETMV RWAQESVIED
PELVRAMFVL LHRQYDGIGG LVRALPKTYT INGVSVEDTI NLLASLGQIR SLLSVRMGKE
EEKLMIRGLG DIMNNKVFYQ HPNLMRALGM HETVMEVMVN VLGGGESKEI TFPKMVANCC
RFLCYFCRIS RQNQKAMFDH LSYLLENSSV GLASPAMRGS TPLDVAAASV MDNNELALAL
REPDLEKVVR YLAGCGLQSC QMLVSKGYPD IGWNPVEGER YLDFLRFAVF CNGESVEENA
NVVVRLLIRR PECFGPALRG EGGNGLLAAM EEAIKIAEDP SRDGPSPNSG SSKTLDTEEE
EDDTIHMGNA IMTFYSALID LLGRCAPEMH LIHAGKGEAI RIRSILRSLI PLGDLVGVIS
IAFQMPTIAK DGNVVEPDMS AGFCPDHKAA MVLFLDRVYG IEVQDFLLHL LEVGFLPDLR
AAASLDTAAL SATDMALALN RYLCTAVLPL LTRCAPLFAG TEHHASLIDS LLHTVYRLSK
GCSLTKAQRD SIEVCLLSIC GQLRPSMMQH LLRRLVFDVP LLNEHAKMPL KLLTNHYERC
WKYYCLPGGW GNFGAASEEE LHLSRKLFWG IFDALSQKKY EQELFKLALP CLSAVAGALP
PDYMESNYVS MMEKQSSMDS EGNFNPQPVD TSNITIPEKL EYFINKYAEH SHDKWSMDKL
ANGWIYGEIY SDSSKVQPLM KPYKLLSEKE KEIYRWPIKE SLKTMLAWGW RIERTREGDS
MALYNRTRRI SQTSQVSVDA AHGYSPRAID MSNVTLSRDL HAMAEMMAEN YHNIWAKKKK
MELESKGGGN HPLLVPYDTL TAKEKAKDRE KAQDILKFLQ INGYAVSRGF KDLELDTPSI
EKRFAYSFLQ QLIRYVDEAH QYILEFDGGS RGKGEHFPYE QEIKFFAKVV LPLIDQYFKN
HRLYFLSAAS RPLCSGGHAS NKEKEMVTSL FCKLGVLVRH RISLFGNDAT SIVNCLHILG
QTLDARTVMK TGLESVKSAL RAFLDNAAED LEKTMENLKQ GQFTHTRNQP KGVTQIINYT
TVALLPMLSS LFEHIGQHQF GEDLILEDVQ VSCYRILTSL YALGTSKSIY VERQRSALGE
CLAAFAGAFP VAFLETHLDK HNIYSIYNTK SSRERAALSL PTNVEDVCPD IPSLEKLMEE
IVELAESGIR YTQMPHVMEV ILPMLCSYMS RWWEHGPENN PERAEMCCTA LNSEHMNTLL
GNILKIIYNN LGIDEGAWMK RLAVFSQPII NKVKPQLLKT HFLPLMEKLK KKAATVVSEE
DHLKAEARGD MSEAELLILD EFTTLARDLY AFYPLLIRFV DYNRAKWLKE PNPEAEELFR
MVAEVFIYWS KSHNFKREEQ NFVVQNEINN MSFLITDTKS KMSKAAVSDQ ERKKMKRKGD
RYSMQTSLIV AALKRLLPIG LNICAPGDQE LIALAKNRFS LKDTEDEVRD IIRSNIHLQG
KLEDPAIRWQ MALYKDLPNR TDDTSDPEKT VERVLDIANV LFHLEQKSKR VGRRHYCLVE
HPQRSKKAVW HKLLSKQRKR AVVACFRMAP LYNLPRHRAV NLFLQGYEKS WIETEEHYFE
DKLIEDLAKP GAEPPEEDEG TKRVDPLHQL ILLFSRTALT EKCKLEEDFL YMAYADIMAK
SCHDEEDDDG EEEVKSFEEK EMEKQKLLYQ QARLHDRGAA EMVLQTISAS KGETGPMVAA
TLKLGIAILN GGNSTVQQKM LDYLKEKKDV GFFQSLAGLM QSCSVLDLNA FERQNKAEGL
GMVTEEGSGE KVLQDDEFTC DLFRFLQLLC EGHNSDFQNY LRTQTGNNTT VNIIISTVDY
LLRVQESISD FYWYYSGKDV IDEQGQRNFS KAIQVAKQVF NTLTEYIQGP CTGNQQSLAH
SRLWDAVVGF LHVFAHMQMK LSQDSSQIEL LKELMDLQKD MVVMLLSMLE GNVVNGTIGK
QMVDMLVESS NNVEMILKFF DMFLKLKDLT SSDTFKEYDP DGKGVISKRD FHKAMESHKH
YTQSETEFLL SCAETDENET LDYEEFVKRF HEPAKDIGFN VAVLLTNLSE HMPNDTRLQT
FLELAESVLN YFQPFLGRIE IMGSAKRIER VYFEISESSR TQWEKPQVKE SKRQFIFDVV
NEGGEKEKME LFVNFCEDTI FEMQLAAQIS ESDLNERSAN KEESEKERPE EQGPRMAFFS
ILTVRSALFA LRYNILTLMR MLSLKSLKKQ MKKVKKMTVK DMVTAFFSSY WSIFMTLLHF
VASVFRGFFR IICSLLLGGS LVEGAKKIKV AELLANMPDP TQDEVRGDGE EGERKPLEAA
LPSEDLTDLK ELTEESDLLS DIFGLDLKRE GGQYKLIPHN PNAGLSDLMS NPVPMPEVQE
KFQEQKAKEE EKEEKEETKS EPEKAEGEDG EKEEKAKEDK GKQKLRQLHT HRYGEPEVPE
SAFWKKIIAY QQKLLNYFAR NFYNMRMLAL FVAFAINFIL LFYKVSTSSV VEGKELPTRS
SSENAKVTSL DSSSHRIIAV HYVLEESSGY MEPTLRILAI LHTVISFFCI IGYYCLKVPL
VIFKREKEVA RKLEFDGLYI TEQPSEDDIK GQWDRLVINT QSFPNNYWDK FVKRKVMDKY
GEFYGRDRIS ELLGMDKAAL DFSDAREKKK PKKDSSLSAV LNSIDVKYQM WKLGVVFTDN
SFLYLAWYMT MSVLGHYNNF FFAAHLLDIA MGFKTLRTIL SSVTHNGKQL VLTVGLLAVV
VYLYTVVAFN FFRKFYNKSE DGDTPDMKCD DMLTCYMFHM YVGVRAGGGI GDEIEDPAGD
EYEIYRIIFD ITFFFFVIVI LLAIIQGLII DAFGELRDQQ EQVKEDMETK CFICGIGNDY
FDTVPHGFET HTLQEHNLAN YLFFLMYLIN KDETEHTGQE SYVWKMYQER CWEFFPAGDC
FRKQYEDQLN *

Position of stopcodon in wt / mu CDS

14793 / 14793

Position (AA) of stopcodon in wt / mu AA sequence

4931 / 4931

Position of stopcodon in wt / mu cDNA

15131 / 15131

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15035

Theoretical NMD boundary in CDS

14646

Length of CDS

14793

Coding sequence (CDS) position

9508

cDNA position

9846

gDNA position

664804

Chromosomal position

237706987

Speed

0.07 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

Variant:

1:237706987A>G_6_ENST00000714019

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 9|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714019.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9583A>G
g.664804A>G

AA changes

AAE:	N3195D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3195	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3195	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GTAQGGGHRT LLYGHAILLR HSYSGMYLCC
LSTSRSSTDK LAFDVGLQED TTGEACWWTI HPASKQRSEG EKVRVGDDLI LVSVSSERYL
HLSYGNGSLH VDAAFQQTLW SVAPISSGSE AAQGYLIGGD VLRLLHGHMD ECLTVPSGEH
GEEQRRTVHY EGGAVSVHAR SLWRLETLRV AWSGSHIRWG QPFRLRHVTT GKYLSLMEDK
NLLLMDKEKA DVKSTAFTFR SSKEKLDVGV RKEVDGMGTS EIKYGDSVCY IQHVDTGLWL
TYQSVDVKSV RMGSIQRKAI MHHEGHMDDG ISLSRSQHEE SRTARVIRST VFLFNRFIRG
LDALSKKAKA STVDLPIESV SLSLQDLIGY FHPPDEHLEH EDKQNRLRAL KNRQNLFQEE
GMINLVLECI DRLHVYSSAA HFADVAGREA GESWKSILNS LYELLAALIR GNRKNCAQFS
GSLDWLISRL ERLEASSGIL EVLHCVLVES PEALNIIKEG HIKSIISLLD KHGRNHKVLD
VLCSLCVCHG VAVRSNQHLI CDNLLPGRDL LLQTRLVNHV SSMRPNIFLG VSEGSAQYKK
WYYELMVDHT EPFVTAEATH LRVGWASTEG YSPYPGGGEE WGGNGVGDDL FSYGFDGLHL
WSGCIARTVS SPNQHLLRTD DVISCCLDLS APSISFRING QPVQGMFENF NIDGLFFPVV
SFSAGIKVRF LLGGRHGEFK FLPPPGYAPC YEAVLPKEKL KVEHSREYKQ ERTYTRDLLG
PTVSLTQAAF TPIPVDTSQI VLPPHLERIR EKLAENIHEL WVMNKIELGW QYGPVRDDNK
RQHPCLVEFS KLPEQERNYN LQMSLETLKT LLALGCHVGI SDEHAEDKVK KMKLPKNYQL
TSGYKPAPMD LSFIKLTPSQ EAMVDKLAEN AHNVWARDRI RQGWTYGIQQ DVKNRRNPRL
VPYTLLDDRT KKSNKDSLRE AVRTLLGYGY NLEAPDQDHA ARAEVCSGTG ERFRIFRAEK
TYAVKAGRWY FEFETVTAGD MRVGWSRPGC QPDQELGSDE RAFAFDGFKA QRWHQGNEHY
GRSWQAGDVV GCMVDMNEHT MMFTLNGEIL LDDSGSELAF KDFDVGDGFI PVCSLGVAQV
GRMNFGKDVS TLKYFTICGL QEGYEPFAVN TNRDITMWLS KRLPQFLQVP SNHEHIEVTR
IDGTIDSSPC LKVTQKSFGS QNSNTDIMFY RLSMPIECAE VFSKTVAGGL PGAGLFGPKN
DLEDYDADSD FEVLMKTAHG HLVPDRVDKD KEATKPEFNN HKDYAQEKPS RLKQRFLLRR
TKPDYSTSHS ARLTEDVLAD DRDDYDFLMQ TSTYYYSVRI FPGQEPANVW VGWITSDFHQ
YDTGFDLDRV RTVTVTLGDE KGKVHESIKR SNCYMVCAGE SMSPGQGRNN NGLEIGCVVD
AASGLLTFIA NGKELSTYYQ VEPSTKLFPA VFAQATSPNV FQFELGRIKN VMPLSAGLFK
SEHKNPVPQC PPRLHVQFLS HVLWSRMPNQ FLKVDVSRIS ERQGWLVQCL DPLQFMSLHI
PEENRSVDIL ELTEQEELLK FHYHTLRLYS AVCALGNHRV AHALCSHVDE PQLLYAIENK
YMPGLLRAGY YDLLIDIHLS SYATARLMMN NEYIVPMTEE TKSITLFPDE NKKHGLPGIG
LSTSLRPRMQ FSSPSFVSIS NECYQYSPEF PLDILKSKTI QMLTEAVKEG SLHARDPVGG
TTEFLFVPLI KLFYTLLIMG IFHNEDLKHI LQLIEPSVFK EAATPEEESD TLEKELSVDD
AKLQGAGEEE AKGGKRPKEG LLQMKLPEPV KLQMCLLLQY LCDCQVRHRI EAIVAFSDDF
VAKLQDNQRF RYNEVMQALN MSAALTARKT KEFRSPPQEQ INMLLNFKDD KSECPCPEEI
RDQLLDFHED LMTHCGIELD EDGSLDGNSD LTIRGRLLSL VEKVTYLKKK QAEKPVESDS
KKSSTLQQLI SETMVRWAQE SVIEDPELVR AMFVLLHRQY DGIGGLVRAL PKTYTINGVS
VEDTINLLAS LGQIRSLLSV RMGKEEEKLM IRGLGDIMNN KVFYQHPNLM RALGMHETVM
EVMVNVLGGG ESKEITFPKM VANCCRFLCY FCRISRQNQK AMFDHLSYLL ENSSVGLASP
AMRGSTPLDV AAASVMDNNE LALALREPDL EKVVRYLAGC GLQSCQMLVS KGYPDIGWNP
VEGERYLDFL RFAVFCNGES VEENANVVVR LLIRRPECFG PALRGEGGNG LLAAMEEAIK
IAEDPSRDGP SPNSGSSKTL DTEEEEDDTI HMGNAIMTFY SALIDLLGRC APEMHLIHAG
KGEAIRIRSI LRSLIPLGDL VGVISIAFQM PTIAKDGNVV EPDMSAGFCP DHKAAMVLFL
DRVYGIEVQD FLLHLLEVGF LPDLRAAASL DTAALSATDM ALALNRYLCT AVLPLLTRCA
PLFAGTEHHA SLIDSLLHTV YRLSKGCSLT KAQRDSIEVC LLSICGQLRP SMMQHLLRRL
VFDVPLLNEH AKMPLKLLTN HYERCWKYYC LPGGWGNFGA ASEEELHLSR KLFWGIFDAL
SQKKYEQELF KLALPCLSAV AGALPPDYME SNYVSMMEKQ SSMDSEGNFN PQPVDTSNIT
IPEKLEYFIN KYAEHSHDKW SMDKLANGWI YGEIYSDSSK VQPLMKPYKL LSEKEKEIYR
WPIKESLKTM LAWGWRIERT REGDSMALYN RTRRISQTSQ VSVDAAHGYS PRAIDMSNVT
LSRDLHAMAE MMAENYHNIW AKKKKMELES KGGGNHPLLV PYDTLTAKEK AKDREKAQDI
LKFLQINGYA VSRGFKDLEL DTPSIEKRFA YSFLQQLIRY VDEAHQYILE FDGGSRGKGE
HFPYEQEIKF FAKVVLPLID QYFKNHRLYF LSAASRPLCS GGHASNKEKE MVTSLFCKLG
VLVRHRISLF GNDATSIVNC LHILGQTLDA RTVMKTGLES VKSALRAFLD NAAEDLEKTM
ENLKQGQFTH TRNQPKGVTQ IINYTTVALL PMLSSLFEHI GQHQFGEDLI LEDVQVSCYR
ILTSLYALGT SKSIYVERQR SALGECLAAF AGAFPVAFLE THLDKHNIYS IYNTKSSRER
AALSLPTNVE DVCPNIPSLE KLMEEIVELA ESGIRYTQMP HVMEVILPML CSYMSRWWEH
GPENNPERAE MCCTALNSEH MNTLLGNILK IIYNNLGIDE GAWMKRLAVF SQPIINKVKP
QLLKTHFLPL MEKLKKKAAT VVSEEDHLKA EARGDMSEAE LLILDEFTTL ARDLYAFYPL
LIRFVDYNRA KWLKEPNPEA EELFRMVAEV FIYWSKSHNF KREEQNFVVQ NEINNMSFLI
TDTKSKMSKA AVSDQERKKM KRKGDRYSMQ TSLIVAALKR LLPIGLNICA PGDQELIALA
KNRFSLKDTE DEVRDIIRSN IHLQGKLEDP AIRWQMALYK DLPNRTDDTS DPEKTVERVL
DIANVLFHLE QKSKRVGRRH YCLVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEEKEMEKQ KLLYQQARLH
DRGAAEMVLQ TISASKGETG PMVAATLKLG IAILNGGNST VQQKMLDYLK EKKDVGFFQS
LAGLMQSCSV LDLNAFERQN KAEGLGMVTE EGSGEKVLQD DEFTCDLFRF LQLLCEGHNS
DFQNYLRTQT GNNTTVNIII STVDYLLRVQ ESISDFYWYY SGKDVIDEQG QRNFSKAIQV
AKQVFNTLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA HMQMKLSQDS SQIELLKELM
DLQKDMVVML LSMLEGNVVN GTIGKQMVDM LVESSNNVEM ILKFFDMFLK LKDLTSSDTF
KEYDPDGKGV ISKRDFHKAM ESHKHYTQSE TEFLLSCAET DENETLDYEE FVKRFHEPAK
DIGFNVAVLL TNLSEHMPND TRLQTFLELA ESVLNYFQPF LGRIEIMGSA KRIERVYFEI
SESSRTQWEK PQVKESKRQF IFDVVNEGGE KEKMELFVNF CEDTIFEMQL AAQISESDLN
ERSANKEESE KERPEEQGPR MAFFSILTVR SALFALRYNI LTLMRMLSLK SLKKQMKKVK
KMTVKDMVTA FFSSYWSIFM TLLHFVASVF RGFFRIICSL LLGGSLVEGA KKIKVAELLA
NMPDPTQDEV RGDGEEGERK PLEAALPSED LTDLKELTEE SDLLSDIFGL DLKREGGQYK
LIPHNPNAGL SDLMSNPVPM PEVQEKFQEQ KAKEEEKEEK EETKSEPEKA EGEDGEKEEK
AKEDKGKQKL RQLHTHRYGE PEVPESAFWK KIIAYQQKLL NYFARNFYNM RMLALFVAFA
INFILLFYKV STSSVVEGKE LPTRSSSENA KVTSLDSSSH RIIAVHYVLE ESSGYMEPTL
RILAILHTVI SFFCIIGYYC LKVPLVIFKR EKEVARKLEF DGLYITEQPS EDDIKGQWDR
LVINTQSFPN NYWDKFVKRK VMDKYGEFYG RDRISELLGM DKAALDFSDA REKKKPKKDS
SLSAVLNSID VKYQMWKLGV VFTDNSFLYL AWYMTMSVLG HYNNFFFAAH LLDIAMGFKT
LRTILSSVTH NGKQLVLTVG LLAVVVYLYT VVAFNFFRKF YNKSEDGDTP DMKCDDMLTC
YMFHMYVGVR AGGGIGDEIE DPAGDEYEIY RIIFDITFFF FVIVILLAII QGLIIDAFGE
LRDQQEQVKE DMETKCFICG IGNDYFDTVP HGFETHTLQE HNLANYLFFL MYLINKDETE
HTGQESYVWK MYQERCWEFF PAGDCFRKQY EDQLN*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GTAQGGGHRT LLYGHAILLR HSYSGMYLCC
LSTSRSSTDK LAFDVGLQED TTGEACWWTI HPASKQRSEG EKVRVGDDLI LVSVSSERYL
HLSYGNGSLH VDAAFQQTLW SVAPISSGSE AAQGYLIGGD VLRLLHGHMD ECLTVPSGEH
GEEQRRTVHY EGGAVSVHAR SLWRLETLRV AWSGSHIRWG QPFRLRHVTT GKYLSLMEDK
NLLLMDKEKA DVKSTAFTFR SSKEKLDVGV RKEVDGMGTS EIKYGDSVCY IQHVDTGLWL
TYQSVDVKSV RMGSIQRKAI MHHEGHMDDG ISLSRSQHEE SRTARVIRST VFLFNRFIRG
LDALSKKAKA STVDLPIESV SLSLQDLIGY FHPPDEHLEH EDKQNRLRAL KNRQNLFQEE
GMINLVLECI DRLHVYSSAA HFADVAGREA GESWKSILNS LYELLAALIR GNRKNCAQFS
GSLDWLISRL ERLEASSGIL EVLHCVLVES PEALNIIKEG HIKSIISLLD KHGRNHKVLD
VLCSLCVCHG VAVRSNQHLI CDNLLPGRDL LLQTRLVNHV SSMRPNIFLG VSEGSAQYKK
WYYELMVDHT EPFVTAEATH LRVGWASTEG YSPYPGGGEE WGGNGVGDDL FSYGFDGLHL
WSGCIARTVS SPNQHLLRTD DVISCCLDLS APSISFRING QPVQGMFENF NIDGLFFPVV
SFSAGIKVRF LLGGRHGEFK FLPPPGYAPC YEAVLPKEKL KVEHSREYKQ ERTYTRDLLG
PTVSLTQAAF TPIPVDTSQI VLPPHLERIR EKLAENIHEL WVMNKIELGW QYGPVRDDNK
RQHPCLVEFS KLPEQERNYN LQMSLETLKT LLALGCHVGI SDEHAEDKVK KMKLPKNYQL
TSGYKPAPMD LSFIKLTPSQ EAMVDKLAEN AHNVWARDRI RQGWTYGIQQ DVKNRRNPRL
VPYTLLDDRT KKSNKDSLRE AVRTLLGYGY NLEAPDQDHA ARAEVCSGTG ERFRIFRAEK
TYAVKAGRWY FEFETVTAGD MRVGWSRPGC QPDQELGSDE RAFAFDGFKA QRWHQGNEHY
GRSWQAGDVV GCMVDMNEHT MMFTLNGEIL LDDSGSELAF KDFDVGDGFI PVCSLGVAQV
GRMNFGKDVS TLKYFTICGL QEGYEPFAVN TNRDITMWLS KRLPQFLQVP SNHEHIEVTR
IDGTIDSSPC LKVTQKSFGS QNSNTDIMFY RLSMPIECAE VFSKTVAGGL PGAGLFGPKN
DLEDYDADSD FEVLMKTAHG HLVPDRVDKD KEATKPEFNN HKDYAQEKPS RLKQRFLLRR
TKPDYSTSHS ARLTEDVLAD DRDDYDFLMQ TSTYYYSVRI FPGQEPANVW VGWITSDFHQ
YDTGFDLDRV RTVTVTLGDE KGKVHESIKR SNCYMVCAGE SMSPGQGRNN NGLEIGCVVD
AASGLLTFIA NGKELSTYYQ VEPSTKLFPA VFAQATSPNV FQFELGRIKN VMPLSAGLFK
SEHKNPVPQC PPRLHVQFLS HVLWSRMPNQ FLKVDVSRIS ERQGWLVQCL DPLQFMSLHI
PEENRSVDIL ELTEQEELLK FHYHTLRLYS AVCALGNHRV AHALCSHVDE PQLLYAIENK
YMPGLLRAGY YDLLIDIHLS SYATARLMMN NEYIVPMTEE TKSITLFPDE NKKHGLPGIG
LSTSLRPRMQ FSSPSFVSIS NECYQYSPEF PLDILKSKTI QMLTEAVKEG SLHARDPVGG
TTEFLFVPLI KLFYTLLIMG IFHNEDLKHI LQLIEPSVFK EAATPEEESD TLEKELSVDD
AKLQGAGEEE AKGGKRPKEG LLQMKLPEPV KLQMCLLLQY LCDCQVRHRI EAIVAFSDDF
VAKLQDNQRF RYNEVMQALN MSAALTARKT KEFRSPPQEQ INMLLNFKDD KSECPCPEEI
RDQLLDFHED LMTHCGIELD EDGSLDGNSD LTIRGRLLSL VEKVTYLKKK QAEKPVESDS
KKSSTLQQLI SETMVRWAQE SVIEDPELVR AMFVLLHRQY DGIGGLVRAL PKTYTINGVS
VEDTINLLAS LGQIRSLLSV RMGKEEEKLM IRGLGDIMNN KVFYQHPNLM RALGMHETVM
EVMVNVLGGG ESKEITFPKM VANCCRFLCY FCRISRQNQK AMFDHLSYLL ENSSVGLASP
AMRGSTPLDV AAASVMDNNE LALALREPDL EKVVRYLAGC GLQSCQMLVS KGYPDIGWNP
VEGERYLDFL RFAVFCNGES VEENANVVVR LLIRRPECFG PALRGEGGNG LLAAMEEAIK
IAEDPSRDGP SPNSGSSKTL DTEEEEDDTI HMGNAIMTFY SALIDLLGRC APEMHLIHAG
KGEAIRIRSI LRSLIPLGDL VGVISIAFQM PTIAKDGNVV EPDMSAGFCP DHKAAMVLFL
DRVYGIEVQD FLLHLLEVGF LPDLRAAASL DTAALSATDM ALALNRYLCT AVLPLLTRCA
PLFAGTEHHA SLIDSLLHTV YRLSKGCSLT KAQRDSIEVC LLSICGQLRP SMMQHLLRRL
VFDVPLLNEH AKMPLKLLTN HYERCWKYYC LPGGWGNFGA ASEEELHLSR KLFWGIFDAL
SQKKYEQELF KLALPCLSAV AGALPPDYME SNYVSMMEKQ SSMDSEGNFN PQPVDTSNIT
IPEKLEYFIN KYAEHSHDKW SMDKLANGWI YGEIYSDSSK VQPLMKPYKL LSEKEKEIYR
WPIKESLKTM LAWGWRIERT REGDSMALYN RTRRISQTSQ VSVDAAHGYS PRAIDMSNVT
LSRDLHAMAE MMAENYHNIW AKKKKMELES KGGGNHPLLV PYDTLTAKEK AKDREKAQDI
LKFLQINGYA VSRGFKDLEL DTPSIEKRFA YSFLQQLIRY VDEAHQYILE FDGGSRGKGE
HFPYEQEIKF FAKVVLPLID QYFKNHRLYF LSAASRPLCS GGHASNKEKE MVTSLFCKLG
VLVRHRISLF GNDATSIVNC LHILGQTLDA RTVMKTGLES VKSALRAFLD NAAEDLEKTM
ENLKQGQFTH TRNQPKGVTQ IINYTTVALL PMLSSLFEHI GQHQFGEDLI LEDVQVSCYR
ILTSLYALGT SKSIYVERQR SALGECLAAF AGAFPVAFLE THLDKHNIYS IYNTKSSRER
AALSLPTNVE DVCPDIPSLE KLMEEIVELA ESGIRYTQMP HVMEVILPML CSYMSRWWEH
GPENNPERAE MCCTALNSEH MNTLLGNILK IIYNNLGIDE GAWMKRLAVF SQPIINKVKP
QLLKTHFLPL MEKLKKKAAT VVSEEDHLKA EARGDMSEAE LLILDEFTTL ARDLYAFYPL
LIRFVDYNRA KWLKEPNPEA EELFRMVAEV FIYWSKSHNF KREEQNFVVQ NEINNMSFLI
TDTKSKMSKA AVSDQERKKM KRKGDRYSMQ TSLIVAALKR LLPIGLNICA PGDQELIALA
KNRFSLKDTE DEVRDIIRSN IHLQGKLEDP AIRWQMALYK DLPNRTDDTS DPEKTVERVL
DIANVLFHLE QKSKRVGRRH YCLVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEEKEMEKQ KLLYQQARLH
DRGAAEMVLQ TISASKGETG PMVAATLKLG IAILNGGNST VQQKMLDYLK EKKDVGFFQS
LAGLMQSCSV LDLNAFERQN KAEGLGMVTE EGSGEKVLQD DEFTCDLFRF LQLLCEGHNS
DFQNYLRTQT GNNTTVNIII STVDYLLRVQ ESISDFYWYY SGKDVIDEQG QRNFSKAIQV
AKQVFNTLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA HMQMKLSQDS SQIELLKELM
DLQKDMVVML LSMLEGNVVN GTIGKQMVDM LVESSNNVEM ILKFFDMFLK LKDLTSSDTF
KEYDPDGKGV ISKRDFHKAM ESHKHYTQSE TEFLLSCAET DENETLDYEE FVKRFHEPAK
DIGFNVAVLL TNLSEHMPND TRLQTFLELA ESVLNYFQPF LGRIEIMGSA KRIERVYFEI
SESSRTQWEK PQVKESKRQF IFDVVNEGGE KEKMELFVNF CEDTIFEMQL AAQISESDLN
ERSANKEESE KERPEEQGPR MAFFSILTVR SALFALRYNI LTLMRMLSLK SLKKQMKKVK
KMTVKDMVTA FFSSYWSIFM TLLHFVASVF RGFFRIICSL LLGGSLVEGA KKIKVAELLA
NMPDPTQDEV RGDGEEGERK PLEAALPSED LTDLKELTEE SDLLSDIFGL DLKREGGQYK
LIPHNPNAGL SDLMSNPVPM PEVQEKFQEQ KAKEEEKEEK EETKSEPEKA EGEDGEKEEK
AKEDKGKQKL RQLHTHRYGE PEVPESAFWK KIIAYQQKLL NYFARNFYNM RMLALFVAFA
INFILLFYKV STSSVVEGKE LPTRSSSENA KVTSLDSSSH RIIAVHYVLE ESSGYMEPTL
RILAILHTVI SFFCIIGYYC LKVPLVIFKR EKEVARKLEF DGLYITEQPS EDDIKGQWDR
LVINTQSFPN NYWDKFVKRK VMDKYGEFYG RDRISELLGM DKAALDFSDA REKKKPKKDS
SLSAVLNSID VKYQMWKLGV VFTDNSFLYL AWYMTMSVLG HYNNFFFAAH LLDIAMGFKT
LRTILSSVTH NGKQLVLTVG LLAVVVYLYT VVAFNFFRKF YNKSEDGDTP DMKCDDMLTC
YMFHMYVGVR AGGGIGDEIE DPAGDEYEIY RIIFDITFFF FVIVILLAII QGLIIDAFGE
LRDQQEQVKE DMETKCFICG IGNDYFDTVP HGFETHTLQE HNLANYLFFL MYLINKDETE
HTGQESYVWK MYQERCWEFF PAGDCFRKQY EDQLN*

Position of stopcodon in wt / mu CDS

14868 / 14868

Position (AA) of stopcodon in wt / mu AA sequence

4956 / 4956

Position of stopcodon in wt / mu cDNA

15206 / 15206

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15110

Theoretical NMD boundary in CDS

14721

Length of CDS

14868

Coding sequence (CDS) position

9583

cDNA position

9921

gDNA position

664804

Chromosomal position

237706987

Speed

0.17 s

Back to summary table

Variant:

1:237706987A>G_7_ENST00000714021

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 9|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714021.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9619A>G
g.664804A>G

AA changes

AAE:	N3207D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3207	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME
KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY
LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSVITHE RGEKVLQDDE
FTCDLFRFLQ LLCEGHNSDF QNYLRTQTGN NTTVNIIIST VDYLLRVQES ISDFYWYYSG
KDVIDEQGQR NFSKAIQVAK QVFNTLTEYI QGPCTGNQQS LAHSRLWDAV VGFLHVFAHM
QMKLSQDSSQ IELLKELMDL QKDMVVMLLS MLEGNVVNGT IGKQMVDMLV ESSNNVEMIL
KFFDMFLKLK DLTSSDTFKE YDPDGKGVIS KRDFHKAMES HKHYTQSETE FLLSCAETDE
NETLDYEEFV KRFHEPAKDI GFNVAVLLTN LSEHMPNDTR LQTFLELAES VLNYFQPFLG
RIEIMGSAKR IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEKE KMELFVNFCE
DTIFEMQLAA QISESDLNER SANKEESEKE RPEEQGPRMA FFSILTVRSA LFALRYNILT
LMRMLSLKSL KKQMKKVKKM TVKDMVTAFF SSYWSIFMTL LHFVASVFRG FFRIICSLLL
GGSLVEGAKK IKVAELLANM PDPTQDEVRG DGEEGERKPL EAALPSEDLT DLKELTEESD
LLSDIFGLDL KREGGQYKLI PHNPNAGLSD LMSNPVPMPE VQEKFQEQKA KEEEKEEKEE
TKSEPEKAEG EDGEKEEKAK EDKGKQKLRQ LHTHRYGEPE VPESAFWKKI IAYQQKLLNY
FARNFYNMRM LALFVAFAIN FILLFYKVST SSVVEGKELP TRSSSENAKV TSLDSSSHRI
IAVHYVLEES SGYMEPTLRI LAILHTVISF FCIIGYYCLK VPLVIFKREK EVARKLEFDG
LYITEQPSED DIKGQWDRLV INTQSFPNNY WDKFVKRKVM DKYGEFYGRD RISELLGMDK
AALDFSDARE KKKPKKDSSL SAVLNSIDVK YQMWKLGVVF TDNSFLYLAW YMTMSVLGHY
NNFFFAAHLL DIAMGFKTLR TILSSVTHNG KQLVLTVGLL AVVVYLYTVV AFNFFRKFYN
KSEDGDTPDM KCDDMLTCYM FHMYVGVRAG GGIGDEIEDP AGDEYEIYRI IFDITFFFFV
IVILLAIIQG LIIDAFGELR DQQEQVKEDM ETKCFICGIG NDYFDTVPHG FETHTLQEHN
LANYLFFLMY LINKDETEHT GQESYVWKMY QERCWEFFPA GDCFRKQYED QLN*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPDIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME
KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY
LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSVITHE RGEKVLQDDE
FTCDLFRFLQ LLCEGHNSDF QNYLRTQTGN NTTVNIIIST VDYLLRVQES ISDFYWYYSG
KDVIDEQGQR NFSKAIQVAK QVFNTLTEYI QGPCTGNQQS LAHSRLWDAV VGFLHVFAHM
QMKLSQDSSQ IELLKELMDL QKDMVVMLLS MLEGNVVNGT IGKQMVDMLV ESSNNVEMIL
KFFDMFLKLK DLTSSDTFKE YDPDGKGVIS KRDFHKAMES HKHYTQSETE FLLSCAETDE
NETLDYEEFV KRFHEPAKDI GFNVAVLLTN LSEHMPNDTR LQTFLELAES VLNYFQPFLG
RIEIMGSAKR IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEKE KMELFVNFCE
DTIFEMQLAA QISESDLNER SANKEESEKE RPEEQGPRMA FFSILTVRSA LFALRYNILT
LMRMLSLKSL KKQMKKVKKM TVKDMVTAFF SSYWSIFMTL LHFVASVFRG FFRIICSLLL
GGSLVEGAKK IKVAELLANM PDPTQDEVRG DGEEGERKPL EAALPSEDLT DLKELTEESD
LLSDIFGLDL KREGGQYKLI PHNPNAGLSD LMSNPVPMPE VQEKFQEQKA KEEEKEEKEE
TKSEPEKAEG EDGEKEEKAK EDKGKQKLRQ LHTHRYGEPE VPESAFWKKI IAYQQKLLNY
FARNFYNMRM LALFVAFAIN FILLFYKVST SSVVEGKELP TRSSSENAKV TSLDSSSHRI
IAVHYVLEES SGYMEPTLRI LAILHTVISF FCIIGYYCLK VPLVIFKREK EVARKLEFDG
LYITEQPSED DIKGQWDRLV INTQSFPNNY WDKFVKRKVM DKYGEFYGRD RISELLGMDK
AALDFSDARE KKKPKKDSSL SAVLNSIDVK YQMWKLGVVF TDNSFLYLAW YMTMSVLGHY
NNFFFAAHLL DIAMGFKTLR TILSSVTHNG KQLVLTVGLL AVVVYLYTVV AFNFFRKFYN
KSEDGDTPDM KCDDMLTCYM FHMYVGVRAG GGIGDEIEDP AGDEYEIYRI IFDITFFFFV
IVILLAIIQG LIIDAFGELR DQQEQVKEDM ETKCFICGIG NDYFDTVPHG FETHTLQEHN
LANYLFFLMY LINKDETEHT GQESYVWKMY QERCWEFFPA GDCFRKQYED QLN*

Position of stopcodon in wt / mu CDS

14922 / 14922

Position (AA) of stopcodon in wt / mu AA sequence

4974 / 4974

Position of stopcodon in wt / mu cDNA

15260 / 15260

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15164

Theoretical NMD boundary in CDS

14775

Length of CDS

14922

Coding sequence (CDS) position

9619

cDNA position

9957

gDNA position

664804

Chromosomal position

237706987

Speed

0.14 s

Back to summary table

Variant:

1:237706987A>G_8_ENST00000714022

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 9|91 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

no data

Ensembl transcript ID

ENST00000714022.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.7654A>G
g.664804A>G

AA changes

AAE:	N2552D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		2552	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	2552	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MRPNIFLGVS EGSAQYKKWY YELMVDHTEP FVTAEATHLR VGWASTEGYS PYPGGGEEWG
GNGVGDDLFS YGFDGLHLWS GCIARTVSSP NQHLLRTDDV ISCCLDLSAP SISFRINGQP
VQGMFENFNI DGLFFPVVSF SAGIKVRFLL GGRHGEFKFL PPPGYAPCYE AVLPKEKLKV
EHSREYKQER TYTRDLLGPT VSLTQAAFTP IPVDTSQIVL PPHLERIREK LAENIHELWV
MNKIELGWQY GPVRDDNKRQ HPCLVEFSKL PEQERNYNLQ MSLETLKTLL ALGCHVGISD
EHAEDKVKKM KLPKNYQLTS GYKPAPMDLS FIKLTPSQEA MVDKLAENAH NVWARDRIRQ
GWTYGIQQDV KNRRNPRLVP YTLLDDRTKK SNKDSLREAV RTLLGYGYNL EAPDQDHARA
EVCSGTGERF RIFRAEKTYA VKAGRWYFEF ETVTAGDMRV GWSRPGCQPD QELGSDERAF
AFDGFKAQRW HQGNEHYGRS WQAGDVVGCM VDMNEHTMMF TLNGEILLDD SGSELAFKDF
DVGDGFIPVC SLGVAQVGRM NFGKDVSTLK YFTICGLQEG YEPFAVNTNR DITMWLSKRL
PQFLQVPSNH EHIEVTRIDG TIDSSPCLKV TQKSFGSQNS NTDIMFYRLS MPIECAEVFS
KTVAGGLPGA GLFGPKNDLE DYDADSDFEV LMKTAHGHLV PDRVDKDKEA TKPEFNNHKD
YAQEKPSRLK QRFLLRRTKP DYSTSHSARL TEDVLADDRD DYDFLMQTST YYYSVRIFPG
QEPANVWVGW ITSDFHQYDT GFDLDRVRTV TVTLGDEKGK VHESIKRSNC YMVCAGESMS
PGQGRNNNGL EIGCVVDAAS GLLTFIANGK ELSTYYQVEP STKLFPAVFA QATSPNVFQF
ELGRIKNVMP LSAGLFKSEH KNPVPQCPPR LHVQFLSHVL WSRMPNQFLK VDVSRISERQ
GWLVQCLDPL QFMSLHIPEE NRSVDILELT EQEELLKFHY HTLRLYSAVC ALGNHRVAHA
LCSHVDEPQL LYAIENKYMP GLLRAGYYDL LIDIHLSSYA TARLMMNNEY IVPMTEETKS
ITLFPDENKK HGLPGIGLST SLRPRMQFSS PSFVSISNEC YQYSPEFPLD ILKSKTIQML
TEAVKEGSLH ARDPVGGTTE FLFVPLIKLF YTLLIMGIFH NEDLKHILQL IEPSVFKEAA
TPEEESDTLE KELSVDDAKL QGAGEEEAKG GKRPKEGLLQ MKLPEPVKLQ MCLLLQYLCD
CQVRHRIEAI VAFSDDFVAK LQDNQRFRYN EVMQALNMSA ALTARKTKEF RSPPQEQINM
LLNFKDDKSE CPCPEEIRDQ LLDFHEDLMT HCGIELDEDG SLDGNSDLTI RGRLLSLVEK
VTYLKKKQAE KPVESDSKKS STLQQLISET MVRWAQESVI EDPELVRAMF VLLHRQYDGI
GGLVRALPKT YTINGVSVED TINLLASLGQ IRSLLSVRMG KEEEKLMIRG LGDIMNNKVF
YQHPNLMRAL GMHETVMEVM VNVLGGGESK EITFPKMVAN CCRFLCYFCR ISRQNQKAMF
DHLSYLLENS SVGLASPAMR GSTPLDVAAA SVMDNNELAL ALREPDLEKV VRYLAGCGLQ
SCQMLVSKGY PDIGWNPVEG ERYLDFLRFA VFCNGESVEE NANVVVRLLI RRPECFGPAL
RGEGGNGLLA AMEEAIKIAE DPSRDGPSPN SGSSKTLDTE EEEDDTIHMG NAIMTFYSAL
IDLLGRCAPE MHLIHAGKGE AIRIRSILRS LIPLGDLVGV ISIAFQMPTI AKDGNVVEPD
MSAGFCPDHK AAMVLFLDRV YGIEVQDFLL HLLEVGFLPD LRAAASLDTA ALSATDMALA
LNRYLCTAVL PLLTRCAPLF AGTEHHASLI DSLLHTVYRL SKGCSLTKAQ RDSIEVCLLS
ICGQLRPSMM QHLLRRLVFD VPLLNEHAKM PLKLLTNHYE RCWKYYCLPG GWGNFGAASE
EELHLSRKLF WGIFDALSQK KYEQELFKLA LPCLSAVAGA LPPDYMESNY VSMMEKQSSM
DSEGNFNPQP VDTSNITIPE KLEYFINKYA EHSHDKWSMD KLANGWIYGE IYSDSSKVQP
LMKPYKLLSE KEKEIYRWPI KESLKTMLAW GWRIERTREG DSMALYNRTR RISQTSQVSV
DAAHGYSPRA IDMSNVTLSR DLHAMAEMMA ENYHNIWAKK KKMELESKGG GNHPLLVPYD
TLTAKEKAKD REKAQDILKF LQINGYAVSR GFKDLELDTP SIEKRFAYSF LQQLIRYVDE
AHQYILEFDG GSRGKGEHFP YEQEIKFFAK VVLPLIDQYF KNHRLYFLSA ASRPLCSGGH
ASNKEKEMVT SLFCKLGVLV RHRISLFGND ATSIVNCLHI LGQTLDARTV MKTGLESVKS
ALRAFLDNAA EDLEKTMENL KQGQFTHTRN QPKGVTQIIN YTTVALLPML SSLFEHIGQH
QFGEDLILED VQVSCYRILT SLYALGTSKS IYVERQRSAL GECLAAFAGA FPVAFLETHL
DKHNIYSIYN TKSSRERAAL SLPTNVEDVC PNIPSLEKLM EEIVELAESG IRYTQMPHVM
EVILPMLCSY MSRWWEHGPE NNPERAEMCC TALNSEHMNT LLGNILKIIY NNLGIDEGAW
MKRLAVFSQP IINKVKPQLL KTHFLPLMEK LKKKAATVVS EEDHLKAEAR GDMSEAELLI
LDEFTTLARD LYAFYPLLIR FVDYNRAKWL KEPNPEAEEL FRMVAEVFIY WSKSHNFKRE
EQNFVVQNEI NNMSFLITDT KSKMSKAAVS DQERKKMKRK GDRYSMQTSL IVAALKRLLP
IGLNICAPGD QELIALAKNR FSLKDTEDEV RDIIRSNIHL QGKLEDPAIR WQMALYKDLP
NRTDDTSDPE KTVERVLDIA NVLFHLEQKS KRVGRRHYCL VEHPQRSKKA VWHKLLSKQR
KRAVVACFRM APLYNLPRHR AVNLFLQGYE KSWIETEEHY FEDKLIEDLA KPGAEPPEED
EGTKRVDPLH QLILLFSRTA LTEKCKLEED FLYMAYADIM AKSCHDEEDD DGEEEVKSFE
EKEMEKQKLL YQQARLHDRG AAEMVLQTIS ASKGETGPMV AATLKLGIAI LNGGNSTVQQ
KMLDYLKEKK DVGFFQSLAG LMQSCSVLDL NAFERQNKAE GLGMVTEEGS GEKVLQDDEF
TCDLFRFLQL LCEGHNSDFQ NYLRTQTGNN TTVNIIISTV DYLLRVQESI SDFYWYYSGK
DVIDEQGQRN FSKAIQVAKQ VFNTLTEYIQ GPCTGNQQSL AHSRLWDAVV GFLHVFAHMQ
MKLSQDSSQI ELLKELMDLQ KDMVVMLLSM LEGNVVNGTI GKQMVDMLVE SSNNVEMILK
FFDMFLKLKD LTSSDTFKEY DPDGKGVISK RDFHKAMESH KHYTQSETEF LLSCAETDEN
ETLDYEEFVK RFHEPAKDIG FNVAVLLTNL SEHMPNDTRL QTFLELAESV LNYFQPFLGR
IEIMGSAKRI ERVYFEISES SRTQWEKPQV KESKRQFIFD VVNEGGEKEK MELFVNFCED
TIFEMQLAAQ ISESDLNERS ANKEESEKER PEEQGPRMAF FSILTVRSAL FALRYNILTL
MRMLSLKSLK KQMKKVKKMT VKDMVTAFFS SYWSIFMTLL HFVASVFRGF FRIICSLLLG
GSLVEGAKKI KVAELLANMP DPTQDEVRGD GEEGERKPLE AALPSEDLTD LKELTEESDL
LSDIFGLDLK REGGQYKLIP HNPNAGLSDL MSNPVPMPEV QEKFQEQKAK EEEKEEKEET
KSEPEKAEGE DGEKEEKAKE DKGKQKLRQL HTHRYGEPEV PESAFWKKII AYQQKLLNYF
ARNFYNMRML ALFVAFAINF ILLFYKVSTS SVVEGKELPT RSSSENAKVT SLDSSSHRII
AVHYVLEESS GYMEPTLRIL AILHTVISFF CIIGYYCLKV PLVIFKREKE VARKLEFDGL
YITEQPSEDD IKGQWDRLVI NTQSFPNNYW DKFVKRKVMD KYGEFYGRDR ISELLGMDKA
ALDFSDAREK KKPKKDSSLS AVLNSIDVKY QMWKLGVVFT DNSFLYLAWY MTMSVLGHYN
NFFFAAHLLD IAMGFKTLRT ILSSVTHNGK QLVLTVGLLA VVVYLYTVVA FNFFRKFYNK
SEDGDTPDMK CDDMLTCYMF HMYVGVRAGG GIGDEIEDPA GDEYEIYRII FDITFFFFVI
VILLAIIQGL IIDAFGELRD QQEQVKEDME TKCFICGIGN DYFDTVPHGF ETHTLQEHNL
ANYLFFLMYL INKDETEHTG QESYVWKMYQ ERCWEFFPAG DCFRKQYEDQ LN*

Mutated AA sequence

MRPNIFLGVS EGSAQYKKWY YELMVDHTEP FVTAEATHLR VGWASTEGYS PYPGGGEEWG
GNGVGDDLFS YGFDGLHLWS GCIARTVSSP NQHLLRTDDV ISCCLDLSAP SISFRINGQP
VQGMFENFNI DGLFFPVVSF SAGIKVRFLL GGRHGEFKFL PPPGYAPCYE AVLPKEKLKV
EHSREYKQER TYTRDLLGPT VSLTQAAFTP IPVDTSQIVL PPHLERIREK LAENIHELWV
MNKIELGWQY GPVRDDNKRQ HPCLVEFSKL PEQERNYNLQ MSLETLKTLL ALGCHVGISD
EHAEDKVKKM KLPKNYQLTS GYKPAPMDLS FIKLTPSQEA MVDKLAENAH NVWARDRIRQ
GWTYGIQQDV KNRRNPRLVP YTLLDDRTKK SNKDSLREAV RTLLGYGYNL EAPDQDHARA
EVCSGTGERF RIFRAEKTYA VKAGRWYFEF ETVTAGDMRV GWSRPGCQPD QELGSDERAF
AFDGFKAQRW HQGNEHYGRS WQAGDVVGCM VDMNEHTMMF TLNGEILLDD SGSELAFKDF
DVGDGFIPVC SLGVAQVGRM NFGKDVSTLK YFTICGLQEG YEPFAVNTNR DITMWLSKRL
PQFLQVPSNH EHIEVTRIDG TIDSSPCLKV TQKSFGSQNS NTDIMFYRLS MPIECAEVFS
KTVAGGLPGA GLFGPKNDLE DYDADSDFEV LMKTAHGHLV PDRVDKDKEA TKPEFNNHKD
YAQEKPSRLK QRFLLRRTKP DYSTSHSARL TEDVLADDRD DYDFLMQTST YYYSVRIFPG
QEPANVWVGW ITSDFHQYDT GFDLDRVRTV TVTLGDEKGK VHESIKRSNC YMVCAGESMS
PGQGRNNNGL EIGCVVDAAS GLLTFIANGK ELSTYYQVEP STKLFPAVFA QATSPNVFQF
ELGRIKNVMP LSAGLFKSEH KNPVPQCPPR LHVQFLSHVL WSRMPNQFLK VDVSRISERQ
GWLVQCLDPL QFMSLHIPEE NRSVDILELT EQEELLKFHY HTLRLYSAVC ALGNHRVAHA
LCSHVDEPQL LYAIENKYMP GLLRAGYYDL LIDIHLSSYA TARLMMNNEY IVPMTEETKS
ITLFPDENKK HGLPGIGLST SLRPRMQFSS PSFVSISNEC YQYSPEFPLD ILKSKTIQML
TEAVKEGSLH ARDPVGGTTE FLFVPLIKLF YTLLIMGIFH NEDLKHILQL IEPSVFKEAA
TPEEESDTLE KELSVDDAKL QGAGEEEAKG GKRPKEGLLQ MKLPEPVKLQ MCLLLQYLCD
CQVRHRIEAI VAFSDDFVAK LQDNQRFRYN EVMQALNMSA ALTARKTKEF RSPPQEQINM
LLNFKDDKSE CPCPEEIRDQ LLDFHEDLMT HCGIELDEDG SLDGNSDLTI RGRLLSLVEK
VTYLKKKQAE KPVESDSKKS STLQQLISET MVRWAQESVI EDPELVRAMF VLLHRQYDGI
GGLVRALPKT YTINGVSVED TINLLASLGQ IRSLLSVRMG KEEEKLMIRG LGDIMNNKVF
YQHPNLMRAL GMHETVMEVM VNVLGGGESK EITFPKMVAN CCRFLCYFCR ISRQNQKAMF
DHLSYLLENS SVGLASPAMR GSTPLDVAAA SVMDNNELAL ALREPDLEKV VRYLAGCGLQ
SCQMLVSKGY PDIGWNPVEG ERYLDFLRFA VFCNGESVEE NANVVVRLLI RRPECFGPAL
RGEGGNGLLA AMEEAIKIAE DPSRDGPSPN SGSSKTLDTE EEEDDTIHMG NAIMTFYSAL
IDLLGRCAPE MHLIHAGKGE AIRIRSILRS LIPLGDLVGV ISIAFQMPTI AKDGNVVEPD
MSAGFCPDHK AAMVLFLDRV YGIEVQDFLL HLLEVGFLPD LRAAASLDTA ALSATDMALA
LNRYLCTAVL PLLTRCAPLF AGTEHHASLI DSLLHTVYRL SKGCSLTKAQ RDSIEVCLLS
ICGQLRPSMM QHLLRRLVFD VPLLNEHAKM PLKLLTNHYE RCWKYYCLPG GWGNFGAASE
EELHLSRKLF WGIFDALSQK KYEQELFKLA LPCLSAVAGA LPPDYMESNY VSMMEKQSSM
DSEGNFNPQP VDTSNITIPE KLEYFINKYA EHSHDKWSMD KLANGWIYGE IYSDSSKVQP
LMKPYKLLSE KEKEIYRWPI KESLKTMLAW GWRIERTREG DSMALYNRTR RISQTSQVSV
DAAHGYSPRA IDMSNVTLSR DLHAMAEMMA ENYHNIWAKK KKMELESKGG GNHPLLVPYD
TLTAKEKAKD REKAQDILKF LQINGYAVSR GFKDLELDTP SIEKRFAYSF LQQLIRYVDE
AHQYILEFDG GSRGKGEHFP YEQEIKFFAK VVLPLIDQYF KNHRLYFLSA ASRPLCSGGH
ASNKEKEMVT SLFCKLGVLV RHRISLFGND ATSIVNCLHI LGQTLDARTV MKTGLESVKS
ALRAFLDNAA EDLEKTMENL KQGQFTHTRN QPKGVTQIIN YTTVALLPML SSLFEHIGQH
QFGEDLILED VQVSCYRILT SLYALGTSKS IYVERQRSAL GECLAAFAGA FPVAFLETHL
DKHNIYSIYN TKSSRERAAL SLPTNVEDVC PDIPSLEKLM EEIVELAESG IRYTQMPHVM
EVILPMLCSY MSRWWEHGPE NNPERAEMCC TALNSEHMNT LLGNILKIIY NNLGIDEGAW
MKRLAVFSQP IINKVKPQLL KTHFLPLMEK LKKKAATVVS EEDHLKAEAR GDMSEAELLI
LDEFTTLARD LYAFYPLLIR FVDYNRAKWL KEPNPEAEEL FRMVAEVFIY WSKSHNFKRE
EQNFVVQNEI NNMSFLITDT KSKMSKAAVS DQERKKMKRK GDRYSMQTSL IVAALKRLLP
IGLNICAPGD QELIALAKNR FSLKDTEDEV RDIIRSNIHL QGKLEDPAIR WQMALYKDLP
NRTDDTSDPE KTVERVLDIA NVLFHLEQKS KRVGRRHYCL VEHPQRSKKA VWHKLLSKQR
KRAVVACFRM APLYNLPRHR AVNLFLQGYE KSWIETEEHY FEDKLIEDLA KPGAEPPEED
EGTKRVDPLH QLILLFSRTA LTEKCKLEED FLYMAYADIM AKSCHDEEDD DGEEEVKSFE
EKEMEKQKLL YQQARLHDRG AAEMVLQTIS ASKGETGPMV AATLKLGIAI LNGGNSTVQQ
KMLDYLKEKK DVGFFQSLAG LMQSCSVLDL NAFERQNKAE GLGMVTEEGS GEKVLQDDEF
TCDLFRFLQL LCEGHNSDFQ NYLRTQTGNN TTVNIIISTV DYLLRVQESI SDFYWYYSGK
DVIDEQGQRN FSKAIQVAKQ VFNTLTEYIQ GPCTGNQQSL AHSRLWDAVV GFLHVFAHMQ
MKLSQDSSQI ELLKELMDLQ KDMVVMLLSM LEGNVVNGTI GKQMVDMLVE SSNNVEMILK
FFDMFLKLKD LTSSDTFKEY DPDGKGVISK RDFHKAMESH KHYTQSETEF LLSCAETDEN
ETLDYEEFVK RFHEPAKDIG FNVAVLLTNL SEHMPNDTRL QTFLELAESV LNYFQPFLGR
IEIMGSAKRI ERVYFEISES SRTQWEKPQV KESKRQFIFD VVNEGGEKEK MELFVNFCED
TIFEMQLAAQ ISESDLNERS ANKEESEKER PEEQGPRMAF FSILTVRSAL FALRYNILTL
MRMLSLKSLK KQMKKVKKMT VKDMVTAFFS SYWSIFMTLL HFVASVFRGF FRIICSLLLG
GSLVEGAKKI KVAELLANMP DPTQDEVRGD GEEGERKPLE AALPSEDLTD LKELTEESDL
LSDIFGLDLK REGGQYKLIP HNPNAGLSDL MSNPVPMPEV QEKFQEQKAK EEEKEEKEET
KSEPEKAEGE DGEKEEKAKE DKGKQKLRQL HTHRYGEPEV PESAFWKKII AYQQKLLNYF
ARNFYNMRML ALFVAFAINF ILLFYKVSTS SVVEGKELPT RSSSENAKVT SLDSSSHRII
AVHYVLEESS GYMEPTLRIL AILHTVISFF CIIGYYCLKV PLVIFKREKE VARKLEFDGL
YITEQPSEDD IKGQWDRLVI NTQSFPNNYW DKFVKRKVMD KYGEFYGRDR ISELLGMDKA
ALDFSDAREK KKPKKDSSLS AVLNSIDVKY QMWKLGVVFT DNSFLYLAWY MTMSVLGHYN
NFFFAAHLLD IAMGFKTLRT ILSSVTHNGK QLVLTVGLLA VVVYLYTVVA FNFFRKFYNK
SEDGDTPDMK CDDMLTCYMF HMYVGVRAGG GIGDEIEDPA GDEYEIYRII FDITFFFFVI
VILLAIIQGL IIDAFGELRD QQEQVKEDME TKCFICGIGN DYFDTVPHGF ETHTLQEHNL
ANYLFFLMYL INKDETEHTG QESYVWKMYQ ERCWEFFPAG DCFRKQYEDQ LN*

Position of stopcodon in wt / mu CDS

12939 / 12939

Position (AA) of stopcodon in wt / mu AA sequence

4313 / 4313

Position of stopcodon in wt / mu cDNA

13371 / 13371

Position of start ATG in wt / mu cDNA

433 / 433

Last intron/exon boundary

13275

Theoretical NMD boundary in CDS

12792

Length of CDS

12939

Coding sequence (CDS) position

7654

cDNA position

8086

gDNA position

664804

Chromosomal position

237706987

Speed

0.15 s

Back to summary table

Variant:

1:237706987A>G_1_ENST00000366574

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

LOEUF: 0.42, LOF (oe): 0.37, misssense (oe): 0.75, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000366574.7

Genbank transcript ID

NM_001035 (exact from MANE)

UniProt / AlphaMissense peptide

RYR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9619A>G
g.664804A>G

AA changes

AAE:	N3207D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3207	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	all identical	3202	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I
Mmulatta	all identical	3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I
Fcatus	all identical	3207	N	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I
Mmusculus	all identical	3206	S	L	P	A	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	T	E	I
Ggallus	all identical	3219	N	L	P	T	S	V	E	E	V	C	P	N	I	P	S	L	V	K	L	M	E	E	I
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	4281	TOPO_DOM	Cytoplasmic	lost
1	4967	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME
KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY
LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSGEKVL QDDEFTCDLF
RFLQLLCEGH NSDFQNYLRT QTGNNTTVNI IISTVDYLLR VQESISDFYW YYSGKDVIDE
QGQRNFSKAI QVAKQVFNTL TEYIQGPCTG NQQSLAHSRL WDAVVGFLHV FAHMQMKLSQ
DSSQIELLKE LMDLQKDMVV MLLSMLEGNV VNGTIGKQMV DMLVESSNNV EMILKFFDMF
LKLKDLTSSD TFKEYDPDGK GVISKRDFHK AMESHKHYTQ SETEFLLSCA ETDENETLDY
EEFVKRFHEP AKDIGFNVAV LLTNLSEHMP NDTRLQTFLE LAESVLNYFQ PFLGRIEIMG
SAKRIERVYF EISESSRTQW EKPQVKESKR QFIFDVVNEG GEKEKMELFV NFCEDTIFEM
QLAAQISESD LNERSANKEE SEKERPEEQG PRMAFFSILT VRSALFALRY NILTLMRMLS
LKSLKKQMKK VKKMTVKDMV TAFFSSYWSI FMTLLHFVAS VFRGFFRIIC SLLLGGSLVE
GAKKIKVAEL LANMPDPTQD EVRGDGEEGE RKPLEAALPS EDLTDLKELT EESDLLSDIF
GLDLKREGGQ YKLIPHNPNA GLSDLMSNPV PMPEVQEKFQ EQKAKEEEKE EKEETKSEPE
KAEGEDGEKE EKAKEDKGKQ KLRQLHTHRY GEPEVPESAF WKKIIAYQQK LLNYFARNFY
NMRMLALFVA FAINFILLFY KVSTSSVVEG KELPTRSSSE NAKVTSLDSS SHRIIAVHYV
LEESSGYMEP TLRILAILHT VISFFCIIGY YCLKVPLVIF KREKEVARKL EFDGLYITEQ
PSEDDIKGQW DRLVINTQSF PNNYWDKFVK RKVMDKYGEF YGRDRISELL GMDKAALDFS
DAREKKKPKK DSSLSAVLNS IDVKYQMWKL GVVFTDNSFL YLAWYMTMSV LGHYNNFFFA
AHLLDIAMGF KTLRTILSSV THNGKQLVLT VGLLAVVVYL YTVVAFNFFR KFYNKSEDGD
TPDMKCDDML TCYMFHMYVG VRAGGGIGDE IEDPAGDEYE IYRIIFDITF FFFVIVILLA
IIQGLIIDAF GELRDQQEQV KEDMETKCFI CGIGNDYFDT VPHGFETHTL QEHNLANYLF
FLMYLINKDE TEHTGQESYV WKMYQERCWE FFPAGDCFRK QYEDQLN*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPDIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME
KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY
LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSGEKVL QDDEFTCDLF
RFLQLLCEGH NSDFQNYLRT QTGNNTTVNI IISTVDYLLR VQESISDFYW YYSGKDVIDE
QGQRNFSKAI QVAKQVFNTL TEYIQGPCTG NQQSLAHSRL WDAVVGFLHV FAHMQMKLSQ
DSSQIELLKE LMDLQKDMVV MLLSMLEGNV VNGTIGKQMV DMLVESSNNV EMILKFFDMF
LKLKDLTSSD TFKEYDPDGK GVISKRDFHK AMESHKHYTQ SETEFLLSCA ETDENETLDY
EEFVKRFHEP AKDIGFNVAV LLTNLSEHMP NDTRLQTFLE LAESVLNYFQ PFLGRIEIMG
SAKRIERVYF EISESSRTQW EKPQVKESKR QFIFDVVNEG GEKEKMELFV NFCEDTIFEM
QLAAQISESD LNERSANKEE SEKERPEEQG PRMAFFSILT VRSALFALRY NILTLMRMLS
LKSLKKQMKK VKKMTVKDMV TAFFSSYWSI FMTLLHFVAS VFRGFFRIIC SLLLGGSLVE
GAKKIKVAEL LANMPDPTQD EVRGDGEEGE RKPLEAALPS EDLTDLKELT EESDLLSDIF
GLDLKREGGQ YKLIPHNPNA GLSDLMSNPV PMPEVQEKFQ EQKAKEEEKE EKEETKSEPE
KAEGEDGEKE EKAKEDKGKQ KLRQLHTHRY GEPEVPESAF WKKIIAYQQK LLNYFARNFY
NMRMLALFVA FAINFILLFY KVSTSSVVEG KELPTRSSSE NAKVTSLDSS SHRIIAVHYV
LEESSGYMEP TLRILAILHT VISFFCIIGY YCLKVPLVIF KREKEVARKL EFDGLYITEQ
PSEDDIKGQW DRLVINTQSF PNNYWDKFVK RKVMDKYGEF YGRDRISELL GMDKAALDFS
DAREKKKPKK DSSLSAVLNS IDVKYQMWKL GVVFTDNSFL YLAWYMTMSV LGHYNNFFFA
AHLLDIAMGF KTLRTILSSV THNGKQLVLT VGLLAVVVYL YTVVAFNFFR KFYNKSEDGD
TPDMKCDDML TCYMFHMYVG VRAGGGIGDE IEDPAGDEYE IYRIIFDITF FFFVIVILLA
IIQGLIIDAF GELRDQQEQV KEDMETKCFI CGIGNDYFDT VPHGFETHTL QEHNLANYLF
FLMYLINKDE TEHTGQESYV WKMYQERCWE FFPAGDCFRK QYEDQLN*

Position of stopcodon in wt / mu CDS

14904 / 14904

Position (AA) of stopcodon in wt / mu AA sequence

4968 / 4968

Position of stopcodon in wt / mu cDNA

15242 / 15242

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15146

Theoretical NMD boundary in CDS

14757

Length of CDS

14904

Coding sequence (CDS) position

9619

cDNA position

9957

gDNA position

664804

Chromosomal position

237706987

Speed

0.16 s

Back to summary table

Variant:

1:237706987A>G_4_ENST00000661330

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 34|66 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

LOEUF: 0.78, LOF (oe): 0.17, misssense (oe): 0.72, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000661330.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9619A>G
g.664804A>G

AA changes

AAE:	N3207D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3207	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEVTGSQ
RSKEKEMEKQ KLLYQQARLH DRGAAEMVLQ TISASKGETG PMVAATLKLG IAILNGGNST
VQQKMLDYLK EKKDVGFFQS LAGLMQSCSV LDLNAFERQN KAEGLGMVTE EGSGEKVLQD
DEFTCDLFRF LQLLCEGHNS DFQNYLRTQT GNNTTVNIII STVDYLLRVQ ESISDFYWYY
SGKDVIDEQG QRNFSKAIQV AKQVFNTLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA
HMQMKLSQDS SQIELLKELM DLQKDMVVML LSMLEGNVVN GTIGKQMVDM LVESSNNVEM
ILKFFDMFLK LKDLTSSDTF KEYDPDGKGV ISKRDFHKAM ESHKHYTQSE TEFLLSCAET
DENETLDYEE FVKRFHEPAK DIGFNVAVLL TNLSEHMPND TRLQTFLELA ESVLNYFQPF
LGRIEIMGSA KRIERVYFEI SESSRTQWEK PQVKESKRQF IFDVVNEGGE KEKMELFVNF
CEDTIFEMQL AAQISESDLN ERSANKEESE KERPEEQGPR MAFFSILTVR SALFALRYNI
LTLMRMLSLK SLKKQMKKVK KMTVKDMVTA FFSSYWSIFM TLLHFVASVF RGFFRIICSL
LLGGSLVEGA KKIKVAELLA NMPDPTQDEV RGDGEEGERK PLEAALPSED LTDLKELTEE
SDLLSDIFGL DLKREGGQYK LIPHNPNAGL SDLMSNPVPM PEVQEKFQKA KEEEKEEKEE
TKSEPEKAEG EDGEKEEKAK EDKGKQKLRQ LHTHRYGEPE VPESAFWKKI IAYQQKLLNY
FARNFYNMRM LALFVAFAIN FILLFYKVST SSVVEGKELP TRSSSENAKV TSLDSSSHRI
IAVHYVLEES SGYMEPTLRI LAILHTVISF FCIIGYYCLK VPLVIFKREK EVARKLEFDG
LYITEQPSED DIKGQWDRLV INTQSFPNNY WDKFVKRKVM DKYGEFYGRD RISELLGMDK
AALDFSDARE KKKPKKDSSL SAVLNSIDVK YQMWKLGVVF TDNSFLYLAW YMTMSVLGHY
NNFFFAAHLL DIAMGFKTLR TILSSVTHNG KQLVLTVGLL AVVVYLYTVV AFNFFRKFYN
KSEDGDTPDM KCDDMLTCYM FHMYVGVRAG GGIGDEIEDP AGDEYEIYRI IFDITFFFFV
IVILLAIIQG LIIDAFGELR DQQEQVKEDM ETKCFICGIG NDYFDTVPHG FETHTLQEHN
LANYLFFLMY LINKDETEHT GQESYVWKMY QERCWEFFPA GDCFRKQYED QLN*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPDIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR
VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEVTGSQ
RSKEKEMEKQ KLLYQQARLH DRGAAEMVLQ TISASKGETG PMVAATLKLG IAILNGGNST
VQQKMLDYLK EKKDVGFFQS LAGLMQSCSV LDLNAFERQN KAEGLGMVTE EGSGEKVLQD
DEFTCDLFRF LQLLCEGHNS DFQNYLRTQT GNNTTVNIII STVDYLLRVQ ESISDFYWYY
SGKDVIDEQG QRNFSKAIQV AKQVFNTLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA
HMQMKLSQDS SQIELLKELM DLQKDMVVML LSMLEGNVVN GTIGKQMVDM LVESSNNVEM
ILKFFDMFLK LKDLTSSDTF KEYDPDGKGV ISKRDFHKAM ESHKHYTQSE TEFLLSCAET
DENETLDYEE FVKRFHEPAK DIGFNVAVLL TNLSEHMPND TRLQTFLELA ESVLNYFQPF
LGRIEIMGSA KRIERVYFEI SESSRTQWEK PQVKESKRQF IFDVVNEGGE KEKMELFVNF
CEDTIFEMQL AAQISESDLN ERSANKEESE KERPEEQGPR MAFFSILTVR SALFALRYNI
LTLMRMLSLK SLKKQMKKVK KMTVKDMVTA FFSSYWSIFM TLLHFVASVF RGFFRIICSL
LLGGSLVEGA KKIKVAELLA NMPDPTQDEV RGDGEEGERK PLEAALPSED LTDLKELTEE
SDLLSDIFGL DLKREGGQYK LIPHNPNAGL SDLMSNPVPM PEVQEKFQKA KEEEKEEKEE
TKSEPEKAEG EDGEKEEKAK EDKGKQKLRQ LHTHRYGEPE VPESAFWKKI IAYQQKLLNY
FARNFYNMRM LALFVAFAIN FILLFYKVST SSVVEGKELP TRSSSENAKV TSLDSSSHRI
IAVHYVLEES SGYMEPTLRI LAILHTVISF FCIIGYYCLK VPLVIFKREK EVARKLEFDG
LYITEQPSED DIKGQWDRLV INTQSFPNNY WDKFVKRKVM DKYGEFYGRD RISELLGMDK
AALDFSDARE KKKPKKDSSL SAVLNSIDVK YQMWKLGVVF TDNSFLYLAW YMTMSVLGHY
NNFFFAAHLL DIAMGFKTLR TILSSVTHNG KQLVLTVGLL AVVVYLYTVV AFNFFRKFYN
KSEDGDTPDM KCDDMLTCYM FHMYVGVRAG GGIGDEIEDP AGDEYEIYRI IFDITFFFFV
IVILLAIIQG LIIDAFGELR DQQEQVKEDM ETKCFICGIG NDYFDTVPHG FETHTLQEHN
LANYLFFLMY LINKDETEHT GQESYVWKMY QERCWEFFPA GDCFRKQYED QLN*

Position of stopcodon in wt / mu CDS

14922 / 14922

Position (AA) of stopcodon in wt / mu AA sequence

4974 / 4974

Position of stopcodon in wt / mu cDNA

15260 / 15260

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15164

Theoretical NMD boundary in CDS

14775

Length of CDS

14922

Coding sequence (CDS) position

9619

cDNA position

9957

gDNA position

664804

Chromosomal position

237706987

Speed

0.16 s

Back to summary table

Variant:

1:237706987A>G_2_ENST00000659194

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 42|58 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

LOEUF: 0.48, LOF (oe): 0.34, misssense (oe): 0.73, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000659194.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9619A>G
g.664804A>G

AA changes

AAE:	N3207D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3207	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEVTGSQRS KEKEMEKQKL
LYQQARLHDR GAAEMVLQTI SASKGETGPM VAATLKLGIA ILNGGNSTVQ QKMLDYLKEK
KDVGFFQSLA GLMQSCSVLD LNAFERQNKA EGLGMVTEEG SGEKVLQDDE FTCDLFRFLQ
LLCEGHNSDF QNYLRTQTGN NTTVNIIIST VDYLLRVQES ISDFYWYYSG KDVIDEQGQR
NFSKAIQVAK QVFNTLTEYI QGPCTGNQQS LAHSRLWDAV VGFLHVFAHM QMKLSQDSSQ
IELLKELMDL QKDMVVMLLS MLEGNVVNGT IGKQMVDMLV ESSNNVEMIL KFFDMFLKLK
DLTSSDTFKE YDPDGKGVIS KRDFHKAMES HKHYTQSETE FLLSCAETDE NETLDYEEFV
KRFHEPAKDI GFNVAVLLTN LSEHMPNDTR LQTFLELAES VLNYFQPFLG RIEIMGSAKR
IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEKE KMELFVNFCE DTIFEMQLAA
QISESDLNER SANKEESEKE RPEEQGPRMA FFSILTVRSA LFALRYNILT LMRMLSLKSL
KKQMKKVKKM TVKDMVTAFF SSYWSIFMTL LHFVASVFRG FFRIICSLLL GGSLVEGAKK
IKVAELLANM PDPTQDEVRG DGEEGERKPL EAALPSEDLT DLKELTEESD LLSDIFGLDL
KREGGQYKLI PHNPNAGLSD LMSNPVPMPE VQEKFQKAKE EEKEEKEETK SEPEKAEGED
GEKEEKAKED KGKQKLRQLH THRYGEPEVP ESAFWKKIIA YQQKLLNYFA RNFYNMRMLA
LFVAFAINFI LLFYKVSTSS VVEGKELPTR SSSENAKVTS LDSSSHRIIA VHYVLEESSG
YMEPTLRILA ILHTVISFFC IIGYYCLKVP LVIFKREKEV ARKLEFDGLY ITEQPSEDDI
KGQWDRLVIN TQSFPNNYWD KFVKRKVMDK YGEFYGRDRI SELLGMDKAA LDFSDAREKK
KPKKDSSLSA VLNSIDVKYQ MWKLGVVFTD NSFLYLAWYM TMSVLGHYNN FFFAAHLLDI
AMGFKTLRTI LSSVTHNGKQ LVLTVGLLAV VVYLYTVVAF NFFRKFYNKS EDGDTPDMKC
DDMLTCYMFH MYVGVRAGGG IGDEIEDPAG DEYEIYRIIF DITFFFFVIV ILLAIIQGLI
IDAFGELRDQ QEQVKEDMET KCFICGIGND YFDTVPHGFE THTLQEHNLA NYLFFLMYLI
NKDETEHTGQ ESYVWKMYQE RCWEFFPAGD CFRKQYEDQL N*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPDIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEVTGSQRS KEKEMEKQKL
LYQQARLHDR GAAEMVLQTI SASKGETGPM VAATLKLGIA ILNGGNSTVQ QKMLDYLKEK
KDVGFFQSLA GLMQSCSVLD LNAFERQNKA EGLGMVTEEG SGEKVLQDDE FTCDLFRFLQ
LLCEGHNSDF QNYLRTQTGN NTTVNIIIST VDYLLRVQES ISDFYWYYSG KDVIDEQGQR
NFSKAIQVAK QVFNTLTEYI QGPCTGNQQS LAHSRLWDAV VGFLHVFAHM QMKLSQDSSQ
IELLKELMDL QKDMVVMLLS MLEGNVVNGT IGKQMVDMLV ESSNNVEMIL KFFDMFLKLK
DLTSSDTFKE YDPDGKGVIS KRDFHKAMES HKHYTQSETE FLLSCAETDE NETLDYEEFV
KRFHEPAKDI GFNVAVLLTN LSEHMPNDTR LQTFLELAES VLNYFQPFLG RIEIMGSAKR
IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEKE KMELFVNFCE DTIFEMQLAA
QISESDLNER SANKEESEKE RPEEQGPRMA FFSILTVRSA LFALRYNILT LMRMLSLKSL
KKQMKKVKKM TVKDMVTAFF SSYWSIFMTL LHFVASVFRG FFRIICSLLL GGSLVEGAKK
IKVAELLANM PDPTQDEVRG DGEEGERKPL EAALPSEDLT DLKELTEESD LLSDIFGLDL
KREGGQYKLI PHNPNAGLSD LMSNPVPMPE VQEKFQKAKE EEKEEKEETK SEPEKAEGED
GEKEEKAKED KGKQKLRQLH THRYGEPEVP ESAFWKKIIA YQQKLLNYFA RNFYNMRMLA
LFVAFAINFI LLFYKVSTSS VVEGKELPTR SSSENAKVTS LDSSSHRIIA VHYVLEESSG
YMEPTLRILA ILHTVISFFC IIGYYCLKVP LVIFKREKEV ARKLEFDGLY ITEQPSEDDI
KGQWDRLVIN TQSFPNNYWD KFVKRKVMDK YGEFYGRDRI SELLGMDKAA LDFSDAREKK
KPKKDSSLSA VLNSIDVKYQ MWKLGVVFTD NSFLYLAWYM TMSVLGHYNN FFFAAHLLDI
AMGFKTLRTI LSSVTHNGKQ LVLTVGLLAV VVYLYTVVAF NFFRKFYNKS EDGDTPDMKC
DDMLTCYMFH MYVGVRAGGG IGDEIEDPAG DEYEIYRIIF DITFFFFVIV ILLAIIQGLI
IDAFGELRDQ QEQVKEDMET KCFICGIGND YFDTVPHGFE THTLQEHNLA NYLFFLMYLI
NKDETEHTGQ ESYVWKMYQE RCWEFFPAGD CFRKQYEDQL N*

Position of stopcodon in wt / mu CDS

14886 / 14886

Position (AA) of stopcodon in wt / mu AA sequence

4962 / 4962

Position of stopcodon in wt / mu cDNA

15224 / 15224

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15128

Theoretical NMD boundary in CDS

14739

Length of CDS

14886

Coding sequence (CDS) position

9619

cDNA position

9957

gDNA position

664804

Chromosomal position

237706987

Speed

0.07 s

Back to summary table

Variant:

1:237706987A>G_3_ENST00000660292

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 44|56 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:237706987A>G (GRCh38)

Gene symbol

RYR2

Gene constraints

LOEUF: 0.55, LOF (oe): 0.39, misssense (oe): 0.67, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000660292.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.9619A>G
g.664804A>G

AA changes

AAE:	N3207D	?
Score:	23

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs372601642
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	55	55

Protein conservation

Species	Match	AA	Alignment
Human		3207	S	L	P	T	N	V	E	D	V	C	P	N	I	P	S	L	E	K	L	M	E	E	I	V
mutated	all conserved	3207	S	L	P	T	N	V	E	D	V	C	P	D	I	P	S	L	E	K	L	M	E	E	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.11	0.011
	1.121	0.022
(flanking)	2.847	0.041

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered gDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Original cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAA

Altered cDNA sequence snippet

ATGTGGAAGATGTTTGTCCAGACATACCGTCTTTGGAGAAA

Wildtype AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEVTGSQRS KEKEMEKQKL
LYQQARLHDR GAAEMVLQTI SASKGETGPM VAATLKLGIA ILNGGNSTVQ QKMLDYLKEK
KDVGFFQSLA GLMQSCSVLD LNAFERQNKA EGLGMVTEEG SASHFESHRL RTGEKVLQDD
EFTCDLFRFL QLLCEGHNSD FQNYLRTQTG NNTTVNIIIS TVDYLLRVQE SISDFYWYYS
GKDVIDEQGQ RNFSKAIQVA KQVFNTLTEY IQGPCTGNQQ SLAHSRLWDA VVGFLHVFAH
MQMKLSQDSS QIELLKELMD LQKDMVVMLL SMLEGNVVNG TIGKQMVDML VESSNNVEMI
LKFFDMFLKL KDLTSSDTFK EYDPDGKGVI SKRDFHKAME SHKHYTQSET EFLLSCAETD
ENETLDYEEF VKRFHEPAKD IGFNVAVLLT NLSEHMPNDT RLQTFLELAE SVLNYFQPFL
GRIEIMGSAK RIERVYFEIS ESSRTQWEKP QVKESKRQFI FDVVNEGGEK EKMELFVNFC
EDTIFEMQLA AQISESDLNE RSANKEESEK ERPEEQGPRM AFFSILTVRS ALFALRYNIL
TLMRMLSLKS LKKQMKKVKK MTVKDMVTAF FSSYWSIFMT LLHFVASVFR GFFRIICSLL
LGGSLVEGAK KIKVAELLAN MPDPTQDEVR GDGEEGERKP LEAALPSEDL TDLKELTEES
DLLSDIFGLD LKREGGQYKL IPHNPNAGLS DLMSNPVPMP EVQEKFQEQK AKEEEKEEKE
ETKSEPEKAE GEDGEKEEKA KEDKGKQKLR QLHTHRYGEP EVPESAFWKK IIAYQQKLLN
YFARNFYNMR MLALFVAFAI NFILLFYKVS TSSVVEGKEL PTRSSSENAK VTSLDSSSHR
IIAVHYVLEE SSGYMEPTLR ILAILHTVIS FFCIIGYYCL KVPLVIFKRE KEVARKLEFD
GLYITEQPSE DDIKGQWDRL VINTQSFPNN YWDKFVKRKV MDKYGEFYGR DRISELLGMD
KAALDFSDAR EKKKPKKDSS LSAVLNSIDV KYQMWKLGVV FTDNSFLYLA WYMTMSVLGH
YNNFFFAAHL LDIAMGFKTL RTILSSVTHN GKQLVLTVGL LAVVVYLYTV VAFNFFRKFY
NKSEDGDTPD MKCDDMLTCY MFHMYVGVRA GGGIGDEIED PAGDEYEIYR IIFDITFFFF
VIVILLAIIQ GLIIDAFGEL RDQQEQVKED METKCFICGI GNDYFDTVPH GFETHTLQEH
NLANYLFFLM YLINKDETEH TGQESYVWKM YQERCWEFFP AGDCFRKQYE DQLN*

Mutated AA sequence

MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP
DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL
LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD
LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH
MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV
CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR
STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR
ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL
IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF
LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD
DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE
NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY
KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK
VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI
QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG
TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF
KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ
VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG
GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK
PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN
VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI
KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ
CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV
DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP
DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE
SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH
RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK
DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK
KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN
LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY
LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML
VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG
NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF
CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL
CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL
RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL
SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY
KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG
YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK
EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI
LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF
LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED
LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI
YSIYNTKSSR ERAALSLPTN VEDVCPDIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP
MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT
TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV
VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI
CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD
TSDPEKTVER VLDIANVLFH LEQVEHPQRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP
RHRAVNLFLQ GYEKSWIETE EHYFEDKLIE DLAKPGAEPP EEDEGTKRVD PLHQLILLFS
RTALTEKCKL EEDFLYMAYA DIMAKSCHDE EDDDGEEEVK SFEVTGSQRS KEKEMEKQKL
LYQQARLHDR GAAEMVLQTI SASKGETGPM VAATLKLGIA ILNGGNSTVQ QKMLDYLKEK
KDVGFFQSLA GLMQSCSVLD LNAFERQNKA EGLGMVTEEG SASHFESHRL RTGEKVLQDD
EFTCDLFRFL QLLCEGHNSD FQNYLRTQTG NNTTVNIIIS TVDYLLRVQE SISDFYWYYS
GKDVIDEQGQ RNFSKAIQVA KQVFNTLTEY IQGPCTGNQQ SLAHSRLWDA VVGFLHVFAH
MQMKLSQDSS QIELLKELMD LQKDMVVMLL SMLEGNVVNG TIGKQMVDML VESSNNVEMI
LKFFDMFLKL KDLTSSDTFK EYDPDGKGVI SKRDFHKAME SHKHYTQSET EFLLSCAETD
ENETLDYEEF VKRFHEPAKD IGFNVAVLLT NLSEHMPNDT RLQTFLELAE SVLNYFQPFL
GRIEIMGSAK RIERVYFEIS ESSRTQWEKP QVKESKRQFI FDVVNEGGEK EKMELFVNFC
EDTIFEMQLA AQISESDLNE RSANKEESEK ERPEEQGPRM AFFSILTVRS ALFALRYNIL
TLMRMLSLKS LKKQMKKVKK MTVKDMVTAF FSSYWSIFMT LLHFVASVFR GFFRIICSLL
LGGSLVEGAK KIKVAELLAN MPDPTQDEVR GDGEEGERKP LEAALPSEDL TDLKELTEES
DLLSDIFGLD LKREGGQYKL IPHNPNAGLS DLMSNPVPMP EVQEKFQEQK AKEEEKEEKE
ETKSEPEKAE GEDGEKEEKA KEDKGKQKLR QLHTHRYGEP EVPESAFWKK IIAYQQKLLN
YFARNFYNMR MLALFVAFAI NFILLFYKVS TSSVVEGKEL PTRSSSENAK VTSLDSSSHR
IIAVHYVLEE SSGYMEPTLR ILAILHTVIS FFCIIGYYCL KVPLVIFKRE KEVARKLEFD
GLYITEQPSE DDIKGQWDRL VINTQSFPNN YWDKFVKRKV MDKYGEFYGR DRISELLGMD
KAALDFSDAR EKKKPKKDSS LSAVLNSIDV KYQMWKLGVV FTDNSFLYLA WYMTMSVLGH
YNNFFFAAHL LDIAMGFKTL RTILSSVTHN GKQLVLTVGL LAVVVYLYTV VAFNFFRKFY
NKSEDGDTPD MKCDDMLTCY MFHMYVGVRA GGGIGDEIED PAGDEYEIYR IIFDITFFFF
VIVILLAIIQ GLIIDAFGEL RDQQEQVKED METKCFICGI GNDYFDTVPH GFETHTLQEH
NLANYLFFLM YLINKDETEH TGQESYVWKM YQERCWEFFP AGDCFRKQYE DQLN*

Position of stopcodon in wt / mu CDS

14925 / 14925

Position (AA) of stopcodon in wt / mu AA sequence

4975 / 4975

Position of stopcodon in wt / mu cDNA

15263 / 15263

Position of start ATG in wt / mu cDNA

339 / 339

Last intron/exon boundary

15167

Theoretical NMD boundary in CDS

14778

Length of CDS

14925

Coding sequence (CDS) position

9619

cDNA position

9957

gDNA position

664804

Chromosomal position

237706987

Speed

0.15 s

MutationT@ster 2025

Transcript summary:

MutationT@ster 2025

Variant:

1:237706987A>G_5_ENST00000714018

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_6_ENST00000714019

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_7_ENST00000714021

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_8_ENST00000714022

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_1_ENST00000366574

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_4_ENST00000661330

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_2_ENST00000659194

Prediction:

Summary:

MutationT@ster 2025

Variant:

1:237706987A>G_3_ENST00000660292

Prediction:

Summary: