Results

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000421865(MANE Select)	LAMA2	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000617695	LAMA2	Deleterious	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000618192	LAMA2	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

Variant:

6:129383131G>A_2_ENST00000421865

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:129383131G>A (GRCh38)

Gene symbol

LAMA2

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.94, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000421865.3

Genbank transcript ID

NM_000426 (exact from MANE)

UniProt / AlphaMissense peptide

LAMA2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4969G>A
g.499994G>A

AA changes

AAE:	V1657M	?
Score:	21

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370971334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	261	262

Protein conservation

Species	Match	AA	Alignment
Human		1657	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A	E
mutated	all conserved	1657	E	M	N	E	L	L	T	R	A	T	K	M	T	A	D	G	E	Q	T	G	Q	D	A
Ptroglodytes	all identical	1657	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A
Mmulatta	all identical	1657	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A
Fcatus	all identical	1660	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A
Mmusculus	all identical	1653	E	T	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A
Ggallus	all identical	1872	E	M	D	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	R	Q	D	A
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	1740	E	M	D	E	L	L	N	R	A	A	K	V	T	A	D	G	E	Q	T	G	K	D	A

Protein features

Start (aa)	End (aa)	Feature
23	3122	CHAIN	lost
1574	2144	REGION	lost
1630	2150	COILED	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.65	1
	5.48	1
(flanking)	5.764	1

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

TGGATCATTAGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered gDNA sequence snippet

TGGATCATTAGGCTACCAAAATGACAGCAGATGGCGAGCAG

Original cDNA sequence snippet

TGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered cDNA sequence snippet

TGCTGACCAGGGCTACCAAAATGACAGCAGATGGCGAGCAG

Wildtype AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKAGTFGLQS
ARGCVPCNCN SFGSKSFDCE ESGQCWCQPG VTGKKCDRCA HGYFNFQEGG CTACECSHLG
NNCDPKTGRC ICPPNTIGEK CSKCAPNTWG HSITTGCKAC NCSTVGSLDF QCNVNTGQCN
CHPKFSGAKC TECSRGHWNY PRCNLCDCFL PGTDATTCDS ETKKCSCSDQ TGQCTCKVNV
EGIHCDRCRP GKFGLDAKNP LGCSSCYCFG TTTQCSEAKG LIRTWVTLKA EQTILPLVDE
ALQHTTTKGI VFQHPEIVAH MDLMREDLHL EPFYWKLPEQ FEGKKLMAYG GKLKYAIYFE
AREETGFSTY NPQVIIRGGT PTHARIIVRH MAAPLIGQLT RHEIEMTEKE WKYYGDDPRV
HRTVTREDFL DILYDIHYIL IKATYGNFMR QSRISEISME VAEQGRGTTM TPPADLIEKC
DCPLGYSGLS CEACLPGFYR LRSQPGGRTP GPTLGTCVPC QCNGHSSLCD PETSICQNCQ
HHTAGDFCER CALGYYGIVK GLPNDCQQCA CPLISSSNNF SPSCVAEGLD DYRCTACPRG
YEGQYCERCA PGYTGSPGNP GGSCQECECD PYGSLPVPCD PVTGFCTCRP GATGRKCDGC
KHWHAREGWE CVFCGDECTG LLLGDLARLE QMVMSINLTG PLPAPYKMLY GLENMTQELK
HLLSPQRAPE RLIQLAEGNL NTLVTEMNEL LTRATKVTAD GEQTGQDAER TNTRAKSLGE
FIKELARDAE AVNEKAIKLN ETLGTRDEAF ERNLEGLQKE IDQMIKELRR KNLETQKEIA
EDELVAAEAL LKKVKKLFGE SRGENEEMEK DLREKLADYK NKVDDAWDLL REATDKIREA
NRLFAVNQKN MTALEKKKEA VESGKRQIEN TLKEGNDILD EANRLADEIN SIIDYVEDIQ
TKLPPMSEEL NDKIDDLSQE IKDRKLAEKV SQAESHAAQL NDSSAVLDGI LDEAKNISFN
ATAAFKAYSN IKDYIDEAEK VAKEAKDLAH EATKLATGPR GLLKEDAKGC LQKSFRILNE
AKKLANDVKE NEDHLNGLKT RIENADARNG DLLRTLNDTL GKLSAIPNDT AAKLQAVKDK
ARQANDTAKD VLAQITELHQ NLDGLKKNYN KLADSVAKTN AVVKDPSKNK IIADADATVK
NLEQEADRLI DKLKPIKELE DNLKKNISEI KELINQARKQ ANSIKVSVSS GGDCIRTYKP
EIKKGSYNNI VVNVKTAVAD NLLFYLGSAK FIDFLAIEMR KGKVSFLWDV GSGVGRVEYP
DLTIDDSYWY RIVASRTGRN GTISVRALDG PKASIVPSTH HSTSPPGYTI LDVDANAMLF
VGGLTGKLKK ADAVRVITFT GCMGETYFDN KPIGLWNFRE KEGDCKGCTV SPQVEDSEGT
IQFDGEGYAL VSRPIRWYPN ISTVMFKFRT FSSSALLMYL ATRDLRDFMS VELTDGHIKV
SYDLGSGMAS VVSNQNHNDG KWKSFTLSRI QKQANISIVD IDTNQEENIA TSSSGNNFGL
DLKADDKIYF GGLPTLRNLS MKARPEVNLK KYSGCLKDIE ISRTPYNILS SPDYVGVTKG
CSLENVYTVS FPKPGFVELS PVPIDVGTEI NLSFSTKNES GIILLGSGGT PAPPRRKRRQ
TGQAYYAILL NRGRLEVHLS TGARTMRKIV IRPEPNLFHD GREHSVHVER TRGIFTVQVD
ENRRYMQNLT VEQPIEVKKL FVGGAPPEFQ PSPLRNIPPF EGCIWNLVIN SVPMDFARPV
SFKNADIGRC AHQKLREDED GAAPAEIVIQ PEPVPTPAFP TPTPVLTHGP CAAESEPALL
IGSKQFGLSR NSHIAIAFDD TKVKNRLTIE LEVRTEAESG LLFYMARINH ADFATVQLRN
GLPYFSYDLG SGDTHTMIPT KINDGQWHKI KIMRSKQEGI LYVDGASNRT ISPKKADILD
VVGMLYVGGL PINYTTRRIG PVTYSIDGCV RNLHMAEAPA DLEQPTSSFH VGTCFANAQR
GTYFDGTGFA KAVGGFKVGL DLLVEFEFRT TTTTGVLLGI SSQKMDGMGI EMIDEKLMFH
VDNGAGRFTA VYDAGVPGHL CDGQWHKVTA NKIKHRIELT VDGNQVEAQS PNPASTSADT
NDPVFVGGFP DDLKQFGLTT SIPFRGCIRS LKLTKGTGKP LEVNFAKALE LRGVQPVSCP
AN*

Mutated AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKAGTFGLQS
ARGCVPCNCN SFGSKSFDCE ESGQCWCQPG VTGKKCDRCA HGYFNFQEGG CTACECSHLG
NNCDPKTGRC ICPPNTIGEK CSKCAPNTWG HSITTGCKAC NCSTVGSLDF QCNVNTGQCN
CHPKFSGAKC TECSRGHWNY PRCNLCDCFL PGTDATTCDS ETKKCSCSDQ TGQCTCKVNV
EGIHCDRCRP GKFGLDAKNP LGCSSCYCFG TTTQCSEAKG LIRTWVTLKA EQTILPLVDE
ALQHTTTKGI VFQHPEIVAH MDLMREDLHL EPFYWKLPEQ FEGKKLMAYG GKLKYAIYFE
AREETGFSTY NPQVIIRGGT PTHARIIVRH MAAPLIGQLT RHEIEMTEKE WKYYGDDPRV
HRTVTREDFL DILYDIHYIL IKATYGNFMR QSRISEISME VAEQGRGTTM TPPADLIEKC
DCPLGYSGLS CEACLPGFYR LRSQPGGRTP GPTLGTCVPC QCNGHSSLCD PETSICQNCQ
HHTAGDFCER CALGYYGIVK GLPNDCQQCA CPLISSSNNF SPSCVAEGLD DYRCTACPRG
YEGQYCERCA PGYTGSPGNP GGSCQECECD PYGSLPVPCD PVTGFCTCRP GATGRKCDGC
KHWHAREGWE CVFCGDECTG LLLGDLARLE QMVMSINLTG PLPAPYKMLY GLENMTQELK
HLLSPQRAPE RLIQLAEGNL NTLVTEMNEL LTRATKMTAD GEQTGQDAER TNTRAKSLGE
FIKELARDAE AVNEKAIKLN ETLGTRDEAF ERNLEGLQKE IDQMIKELRR KNLETQKEIA
EDELVAAEAL LKKVKKLFGE SRGENEEMEK DLREKLADYK NKVDDAWDLL REATDKIREA
NRLFAVNQKN MTALEKKKEA VESGKRQIEN TLKEGNDILD EANRLADEIN SIIDYVEDIQ
TKLPPMSEEL NDKIDDLSQE IKDRKLAEKV SQAESHAAQL NDSSAVLDGI LDEAKNISFN
ATAAFKAYSN IKDYIDEAEK VAKEAKDLAH EATKLATGPR GLLKEDAKGC LQKSFRILNE
AKKLANDVKE NEDHLNGLKT RIENADARNG DLLRTLNDTL GKLSAIPNDT AAKLQAVKDK
ARQANDTAKD VLAQITELHQ NLDGLKKNYN KLADSVAKTN AVVKDPSKNK IIADADATVK
NLEQEADRLI DKLKPIKELE DNLKKNISEI KELINQARKQ ANSIKVSVSS GGDCIRTYKP
EIKKGSYNNI VVNVKTAVAD NLLFYLGSAK FIDFLAIEMR KGKVSFLWDV GSGVGRVEYP
DLTIDDSYWY RIVASRTGRN GTISVRALDG PKASIVPSTH HSTSPPGYTI LDVDANAMLF
VGGLTGKLKK ADAVRVITFT GCMGETYFDN KPIGLWNFRE KEGDCKGCTV SPQVEDSEGT
IQFDGEGYAL VSRPIRWYPN ISTVMFKFRT FSSSALLMYL ATRDLRDFMS VELTDGHIKV
SYDLGSGMAS VVSNQNHNDG KWKSFTLSRI QKQANISIVD IDTNQEENIA TSSSGNNFGL
DLKADDKIYF GGLPTLRNLS MKARPEVNLK KYSGCLKDIE ISRTPYNILS SPDYVGVTKG
CSLENVYTVS FPKPGFVELS PVPIDVGTEI NLSFSTKNES GIILLGSGGT PAPPRRKRRQ
TGQAYYAILL NRGRLEVHLS TGARTMRKIV IRPEPNLFHD GREHSVHVER TRGIFTVQVD
ENRRYMQNLT VEQPIEVKKL FVGGAPPEFQ PSPLRNIPPF EGCIWNLVIN SVPMDFARPV
SFKNADIGRC AHQKLREDED GAAPAEIVIQ PEPVPTPAFP TPTPVLTHGP CAAESEPALL
IGSKQFGLSR NSHIAIAFDD TKVKNRLTIE LEVRTEAESG LLFYMARINH ADFATVQLRN
GLPYFSYDLG SGDTHTMIPT KINDGQWHKI KIMRSKQEGI LYVDGASNRT ISPKKADILD
VVGMLYVGGL PINYTTRRIG PVTYSIDGCV RNLHMAEAPA DLEQPTSSFH VGTCFANAQR
GTYFDGTGFA KAVGGFKVGL DLLVEFEFRT TTTTGVLLGI SSQKMDGMGI EMIDEKLMFH
VDNGAGRFTA VYDAGVPGHL CDGQWHKVTA NKIKHRIELT VDGNQVEAQS PNPASTSADT
NDPVFVGGFP DDLKQFGLTT SIPFRGCIRS LKLTKGTGKP LEVNFAKALE LRGVQPVSCP
AN*

Position of stopcodon in wt / mu CDS

9369 / 9369

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

3123 / 3123

Position of stopcodon in wt / mu cDNA

9477 / 9477

Position of start ATG in wt / mu cDNA

109 / 109

Last intron/exon boundary

9319

Theoretical NMD boundary in CDS

9160

Length of CDS

9369

Coding sequence (CDS) position

4969

cDNA position

5077

gDNA position

499994

Chromosomal position

129383131

Speed

0.14 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:

6:129383131G>A_1_ENST00000617695

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:129383131G>A (GRCh38)

Gene symbol

LAMA2

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.94, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000617695.5

Genbank transcript ID

NM_001079823 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.4969G>A
g.499994G>A

AA changes

AAE:	V1657M	?
Score:	21

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370971334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	261	262

Protein conservation

Species	Match	AA	Alignment
Human		1657	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A	E
mutated	all conserved	1657	E	M	N	E	L	L	T	R	A	T	K	M	T	A	D	G	E	Q	T	G	Q	D	A
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)	2.65	1
	5.48	1
(flanking)	5.764	1

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

TGGATCATTAGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered gDNA sequence snippet

TGGATCATTAGGCTACCAAAATGACAGCAGATGGCGAGCAG

Original cDNA sequence snippet

TGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered cDNA sequence snippet

TGCTGACCAGGGCTACCAAAATGACAGCAGATGGCGAGCAG

Wildtype AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKAGTFGLQS
ARGCVPCNCN SFGSKSFDCE ESGQCWCQPG VTGKKCDRCA HGYFNFQEGG CTACECSHLG
NNCDPKTGRC ICPPNTIGEK CSKCAPNTWG HSITTGCKAC NCSTVGSLDF QCNVNTGQCN
CHPKFSGAKC TECSRGHWNY PRCNLCDCFL PGTDATTCDS ETKKCSCSDQ TGQCTCKVNV
EGIHCDRCRP GKFGLDAKNP LGCSSCYCFG TTTQCSEAKG LIRTWVTLKA EQTILPLVDE
ALQHTTTKGI VFQHPEIVAH MDLMREDLHL EPFYWKLPEQ FEGKKLMAYG GKLKYAIYFE
AREETGFSTY NPQVIIRGGT PTHARIIVRH MAAPLIGQLT RHEIEMTEKE WKYYGDDPRV
HRTVTREDFL DILYDIHYIL IKATYGNFMR QSRISEISME VAEQGRGTTM TPPADLIEKC
DCPLGYSGLS CEACLPGFYR LRSQPGGRTP GPTLGTCVPC QCNGHSSLCD PETSICQNCQ
HHTAGDFCER CALGYYGIVK GLPNDCQQCA CPLISSSNNF SPSCVAEGLD DYRCTACPRG
YEGQYCERCA PGYTGSPGNP GGSCQECECD PYGSLPVPCD PVTGFCTCRP GATGRKCDGC
KHWHAREGWE CVFCGDECTG LLLGDLARLE QMVMSINLTG PLPAPYKMLY GLENMTQELK
HLLSPQRAPE RLIQLAEGNL NTLVTEMNEL LTRATKVTAD GEQTGQDAER TNTRAKSLGE
FIKELARDAE AVNEKAIKLN ETLGTRDEAF ERNLEGLQKE IDQMIKELRR KNLETQKEIA
EDELVAAEAL LKKVKKLFGE SRGENEEMEK DLREKLADYK NKVDDAWDLL REATDKIREA
NRLFAVNQKN MTALEKKKEA VESGKRQIEN TLKEGNDILD EANRLADEIN SIIDYVEDIQ
TKLPPMSEEL NDKIDDLSQE IKDRKLAEKV SQAESHAAQL NDSSAVLDGI LDEAKNISFN
ATAAFKAYSN IKDYIDEAEK VAKEAKDLAH EATKLATGPR GLLKEDAKGC LQKSFRILNE
AKKLANDVKE NEDHLNGLKT RIENADARNG DLLRTLNDTL GKLSAIPNDT AAKLQAVKDK
ARQANDTAKD VLAQITELHQ NLDGLKKNYN KLADSVAKTN AVVKDPSKNK IIADADATVK
NLEQEADRLI DKLKPIKELE DNLKKNISEI KELINQARKQ ANSIKVSVSS GGDCIRTYKP
EIKKGSYNNI VVNVKTAVAD NLLFYLGSAK FIDFLAIEMR KGKVSFLWDV GSGVGRVEYP
DLTIDDSYWY RIVASRTGRN GTISVRALDG PKASIVPSTH HSTSPPGYTI LDVDANAMLF
VGGLTGKLKK ADAVRVITFT GCMGETYFDN KPIGLWNFRE KEGDCKGCTV SPQVEDSEGT
IQFDGEGYAL VSRPIRWYPN ISTVMFKFRT FSSSALLMYL ATRDLRDFMS VELTDGHIKV
SYDLGSGMAS VVSNQNHNDG KWKSFTLSRI QKQANISIVD IDTNQEENIA TSSSGNNFGL
DLKADDKIYF GGLPTLRNLR PEVNLKKYSG CLKDIEISRT PYNILSSPDY VGVTKGCSLE
NVYTVSFPKP GFVELSPVPI DVGTEINLSF STKNESGIIL LGSGGTPAPP RRKRRQTGQA
YYAILLNRGR LEVHLSTGAR TMRKIVIRPE PNLFHDGREH SVHVERTRGI FTVQVDENRR
YMQNLTVEQP IEVKKLFVGG APPEFQPSPL RNIPPFEGCI WNLVINSVPM DFARPVSFKN
ADIGRCAHQK LREDEDGAAP AEIVIQPEPV PTPAFPTPTP VLTHGPCAAE SEPALLIGSK
QFGLSRNSHI AIAFDDTKVK NRLTIELEVR TEAESGLLFY MARINHADFA TVQLRNGLPY
FSYDLGSGDT HTMIPTKIND GQWHKIKIMR SKQEGILYVD GASNRTISPK KADILDVVGM
LYVGGLPINY TTRRIGPVTY SIDGCVRNLH MAEAPADLEQ PTSSFHVGTC FANAQRGTYF
DGTGFAKAVG GFKVGLDLLV EFEFRTTTTT GVLLGISSQK MDGMGIEMID EKLMFHVDNG
AGRFTAVYDA GVPGHLCDGQ WHKVTANKIK HRIELTVDGN QVEAQSPNPA STSADTNDPV
FVGGFPDDLK QFGLTTSIPF RGCIRSLKLT KGTGKPLEVN FAKALELRGV QPVSCPAN*

Mutated AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKAGTFGLQS
ARGCVPCNCN SFGSKSFDCE ESGQCWCQPG VTGKKCDRCA HGYFNFQEGG CTACECSHLG
NNCDPKTGRC ICPPNTIGEK CSKCAPNTWG HSITTGCKAC NCSTVGSLDF QCNVNTGQCN
CHPKFSGAKC TECSRGHWNY PRCNLCDCFL PGTDATTCDS ETKKCSCSDQ TGQCTCKVNV
EGIHCDRCRP GKFGLDAKNP LGCSSCYCFG TTTQCSEAKG LIRTWVTLKA EQTILPLVDE
ALQHTTTKGI VFQHPEIVAH MDLMREDLHL EPFYWKLPEQ FEGKKLMAYG GKLKYAIYFE
AREETGFSTY NPQVIIRGGT PTHARIIVRH MAAPLIGQLT RHEIEMTEKE WKYYGDDPRV
HRTVTREDFL DILYDIHYIL IKATYGNFMR QSRISEISME VAEQGRGTTM TPPADLIEKC
DCPLGYSGLS CEACLPGFYR LRSQPGGRTP GPTLGTCVPC QCNGHSSLCD PETSICQNCQ
HHTAGDFCER CALGYYGIVK GLPNDCQQCA CPLISSSNNF SPSCVAEGLD DYRCTACPRG
YEGQYCERCA PGYTGSPGNP GGSCQECECD PYGSLPVPCD PVTGFCTCRP GATGRKCDGC
KHWHAREGWE CVFCGDECTG LLLGDLARLE QMVMSINLTG PLPAPYKMLY GLENMTQELK
HLLSPQRAPE RLIQLAEGNL NTLVTEMNEL LTRATKMTAD GEQTGQDAER TNTRAKSLGE
FIKELARDAE AVNEKAIKLN ETLGTRDEAF ERNLEGLQKE IDQMIKELRR KNLETQKEIA
EDELVAAEAL LKKVKKLFGE SRGENEEMEK DLREKLADYK NKVDDAWDLL REATDKIREA
NRLFAVNQKN MTALEKKKEA VESGKRQIEN TLKEGNDILD EANRLADEIN SIIDYVEDIQ
TKLPPMSEEL NDKIDDLSQE IKDRKLAEKV SQAESHAAQL NDSSAVLDGI LDEAKNISFN
ATAAFKAYSN IKDYIDEAEK VAKEAKDLAH EATKLATGPR GLLKEDAKGC LQKSFRILNE
AKKLANDVKE NEDHLNGLKT RIENADARNG DLLRTLNDTL GKLSAIPNDT AAKLQAVKDK
ARQANDTAKD VLAQITELHQ NLDGLKKNYN KLADSVAKTN AVVKDPSKNK IIADADATVK
NLEQEADRLI DKLKPIKELE DNLKKNISEI KELINQARKQ ANSIKVSVSS GGDCIRTYKP
EIKKGSYNNI VVNVKTAVAD NLLFYLGSAK FIDFLAIEMR KGKVSFLWDV GSGVGRVEYP
DLTIDDSYWY RIVASRTGRN GTISVRALDG PKASIVPSTH HSTSPPGYTI LDVDANAMLF
VGGLTGKLKK ADAVRVITFT GCMGETYFDN KPIGLWNFRE KEGDCKGCTV SPQVEDSEGT
IQFDGEGYAL VSRPIRWYPN ISTVMFKFRT FSSSALLMYL ATRDLRDFMS VELTDGHIKV
SYDLGSGMAS VVSNQNHNDG KWKSFTLSRI QKQANISIVD IDTNQEENIA TSSSGNNFGL
DLKADDKIYF GGLPTLRNLR PEVNLKKYSG CLKDIEISRT PYNILSSPDY VGVTKGCSLE
NVYTVSFPKP GFVELSPVPI DVGTEINLSF STKNESGIIL LGSGGTPAPP RRKRRQTGQA
YYAILLNRGR LEVHLSTGAR TMRKIVIRPE PNLFHDGREH SVHVERTRGI FTVQVDENRR
YMQNLTVEQP IEVKKLFVGG APPEFQPSPL RNIPPFEGCI WNLVINSVPM DFARPVSFKN
ADIGRCAHQK LREDEDGAAP AEIVIQPEPV PTPAFPTPTP VLTHGPCAAE SEPALLIGSK
QFGLSRNSHI AIAFDDTKVK NRLTIELEVR TEAESGLLFY MARINHADFA TVQLRNGLPY
FSYDLGSGDT HTMIPTKIND GQWHKIKIMR SKQEGILYVD GASNRTISPK KADILDVVGM
LYVGGLPINY TTRRIGPVTY SIDGCVRNLH MAEAPADLEQ PTSSFHVGTC FANAQRGTYF
DGTGFAKAVG GFKVGLDLLV EFEFRTTTTT GVLLGISSQK MDGMGIEMID EKLMFHVDNG
AGRFTAVYDA GVPGHLCDGQ WHKVTANKIK HRIELTVDGN QVEAQSPNPA STSADTNDPV
FVGGFPDDLK QFGLTTSIPF RGCIRSLKLT KGTGKPLEVN FAKALELRGV QPVSCPAN*

Position of stopcodon in wt / mu CDS

9357 / 9357

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

3119 / 3119

Position of stopcodon in wt / mu cDNA

9465 / 9465

Position of start ATG in wt / mu cDNA

109 / 109

Last intron/exon boundary

9307

Theoretical NMD boundary in CDS

9148

Length of CDS

9357

Coding sequence (CDS) position

4969

cDNA position

5077

gDNA position

499994

Chromosomal position

129383131

Speed

0.13 s

Back to summary table

Variant:

6:129383131G>A_3_ENST00000618192

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr6:129383131G>A (GRCh38)

Gene symbol

LAMA2

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.94, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000618192.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5233G>A
g.499994G>A

AA changes

AAE:	V1745M	?
Score:	21

Frameshift

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs370971334
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	261	262

Protein conservation

Species	Match	AA	Alignment
Human		1745	E	M	N	E	L	L	T	R	A	T	K	V	T	A	D	G	E	Q	T	G	Q	D	A	E
mutated	all conserved	1745								R	A	T	K	M	T	A	D	G	E	Q	T	G	Q	D	A
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)	2.65	1
	5.48	1
(flanking)	5.764	1

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

Kozak consensus sequence altered?

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

Strand

Original gDNA sequence snippet

TGGATCATTAGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered gDNA sequence snippet

TGGATCATTAGGCTACCAAAATGACAGCAGATGGCGAGCAG

Original cDNA sequence snippet

TGCTGACCAGGGCTACCAAAGTGACAGCAGATGGCGAGCAG

Altered cDNA sequence snippet

TGCTGACCAGGGCTACCAAAATGACAGCAGATGGCGAGCAG

Wildtype AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKPNMWRDPE
KRFCVLCDCD PVGSVSPQCD ITGRCVCKSG FVGKQCNLGR QVHQQEEQPR RAQRVLGSPQ
RWAIGSSSGC PRGAYRAPAP AGTFGLQSAR GCVPCNCNSF GSKSFDCEES GQCWCQPGVT
GKKCDRCAHG YFNFQEGGCT ACECSHLGNN CDPKTGRCIC PPNTIGEKCS KCAPNTWGHS
ITTGCKACNC STVGSLDFQC NVNTGQCNCH PKFSGAKCTE CSRGHWNYPR CNLCDCFLPG
TDATTCDSET KKCSCSDQTG QCTCKVNVEG IHCDRCRPGK FGLDAKNPLG CSSCYCFGTT
TQCSEAKGLI RTWVTLKAEQ TILPLVDEAL QHTTTKGIVF QHPEIVAHMD LMREDLHLEP
FYWKLPEQFE GKKLMAYGGK LKYAIYFEAR EETGFSTYNP QVIIRGGTPT HARIIVRHMA
APLIGQLTRH EIEMTEKEWK YYGDDPRVHR TVTREDFLDI LYDIHYILIK ATYGNFMRQS
RISEISMEVA EQGRGTTMTP PADLIEKCDC PLGYSGLSCE ACLPGFYRLR SQPGGRTPGP
TLGTCVPCQC NGHSSLCDPE TSICQNCQHH TAGDFCERCA LGYYGIVKGL PNDCQQCACP
LISSSNNFSP SCVAEGLDDY RCTACPRGYE GQYCERCAPG YTGSPGNPGG SCQECECDPY
GSLPVPCDPV TGFCTCRPGA TGRKCDGCKH WHAREGWECV FCGDECTGLL LGDLARLEQM
VMSINLTGPL PAPYKMLYGL ENMTQELKHL LSPQRAPERL IQLAEGNLNT LVTEMNELLT
RATKVTADGE QTGQDAERTN TRAKSLGEFI KELARDAEAV NEKAIKLNET LGTRDEAFER
NLEGLQKEID QMIKELRRKN LETQKEIAED ELVAAEALLK KVKKLFGESR GENEEMEKDL
REKLADYKNK VDDAWDLLRE ATDKIREANR LFAVNQKNMT ALEKKKEAVE SGKRQIENTL
KEGNDILDEA NRLADEINSI IDYVEDIQTK LPPMSEELND KIDDLSQEIK DRKLAEKVSQ
AESHAAQLND SSAVLDGILD EAKNISFNAT AAFKAYSNIK DYIDEAEKVA KEAKDLAHEA
TKLATGPRGL LKEDAKGCLQ KSFRILNEAK KLANDVKENE DHLNGLKTRI ENADARNGDL
LRTLNDTLGK LSAIPNDTAA KLQAVKDKAR QANDTAKDVL AQITELHQNL DGLKKNYNKL
ADSVAKTNAV VKDPSKNKII ADADATVKNL EQEADRLIDK LKPIKELEDN LKKNISEIKE
LINQARKQAN SIKVSVSSGG DCIRTYKPEI KKGSYNNIVV NVKTAVADNL LFYLGSAKFI
DFLAIEMRKG KVSFLWDVGS GVGRVEYPDL TIDDSYWYRI VASRTGRNGT ISVRALDGPK
ASIVPSTHHS TSPPGYTILD VDANAMLFVG GLTGKLKKAD AVRVITFTGC MGETYFDNKP
IGLWNFREKE GDCKGCTVSP QVEDSEGTIQ FDGEGYALVS RPIRWYPNIS TVMFKFRTFS
SSALLMYLAT RDLRDFMSVE LTDGHIKVSY DLGSGMASVV SNQNHNDGKW KSFTLSRIQK
QANISIVDID TNQEENIATS SSGNNFGLDL KADDKIYFGG LPTLRNLSMK ARPEVNLKKY
SGCLKDIEIS RTPYNILSSP DYVGVTKGCS LENVYTVSFP KPGFVELSPV PIDVGTEINL
SFSTKNESGI ILLGSGGTPA PPRRKRRQTG QAYYAILLNR GRLEVHLSTG ARTMRKIVIR
PEPNLFHDGR EHSVHVERTR GIFTVQVDEN RRYMQNLTVE QPIEVKKLFV GGAPPEFQPS
PLRNIPPFEG CIWNLVINSV PMDFARPVSF KNADIGRCAH QKLREDEDGA APAEIVIQPE
PVPTPAFPTP TPVLTHGPCA AESEPALLIG SKQFGLSRNS HIAIAFDDTK VKNRLTIELE
VRTEAESGLL FYMARINHAD FATVQLRNGL PYFSYDLGSG DTHTMIPTKI NDGQWHKIKI
MRSKQEGILY VDGASNRTIS PKKADILDVV GMLYVGGLPI NYTTRRIGPV TYSIDGCVRN
LHMAEAPADL EQPTSSFHVG TCFANAQRGT YFDGTGFAKA VGGFKVGLDL LVEFEFRTTT
TTGVLLGISS QKMDGMGIEM IDEKLMFHVD NGAGRFTAVY DAGVPGHLCD GQWHKVTANK
IKHRIELTVD GNQVEAQSPN PASTSADTND PVFVGGFPDD LKQFGLTTSI PFRGCIRSLK
LTKGTGKPLE VNFAKALELR GVQPVSCPAN *

Mutated AA sequence

MPGAAGVLLL LLLSGGLGGV QAQRPQQQRQ SQAHQQRGLF PAVLNLASNA LITTNATCGE
KGPEMYCKLV EHVPGQPVRN PQCRICNQNS SNPNQRHPIT NAIDGKNTWW QSPSIKNGIE
YHYVTITLDL QQVFQIAYVI VKAANSPRPG NWILERSLDD VEYKPWQYHA VTDTECLTLY
NIYPRTGPPS YAKDDEVICT SFYSKIHPLE NGEIHISLIN GRPSADDPSP ELLEFTSARY
IRLRFQRIRT LNADLMMFAH KDPREIDPIV TRRYYYSVKD ISVGGMCICY GHARACPLDP
ATNKSRCECE HNTCGDSCDQ CCPGFHQKPW RAGTFLTKTE CEACNCHGKA EECYYDENVA
RRNLSLNIRG KYIGGGVCIN CTQNTAGINC ETCTDGFFRP KGVSPNYPRP CQPCHCDPIG
SLNEVCVKDE KHARRGLAPG SCHCKTGFGG VSCDRCARGY TGYPDCKACN CSGLGSKNED
PCFGPCICKE NVEGGDCSRC KSGFFNLQED NWKGCDECFC SGVSNRCQSS YWTYGKIQDM
SGWYLTDLPG RIRVAPQQDD LDSPQQISIS NAEARQALPH SYYWSAPAPY LGNKLPAVGG
QLTFTISYDL EEEEEDTERV LQLMIILEGN DLSISTAQDE VYLHPSEEHT NVLLLKEESF
TIHGTHFPVR RKEFMTVLAN LKRVLLQITY SFGMDAIFRL SSVNLESAVS YPTDGSIAAA
VEVCQCPPGY TGSSCESCWP RHRRVNGTIF GGICEPCQCF GHAESCDDVT GECLNCKDHT
GGPYCDKCLP GFYGEPTKGT SEDCQPCACP LNIPSNNFSP TCHLDRSLGL ICDGCPVGYT
GPRCERCAEG YFGQPSVPGG SCQPCQCNDN LDFSIPGSCD SLSGSCLICK PGTTGRYCEL
CADGYFGDAV DAKNCQPCRC NAGGSFSEVC HSQTGQCECR ANVQGQRCDK CKPNMWRDPE
KRFCVLCDCD PVGSVSPQCD ITGRCVCKSG FVGKQCNLGR QVHQQEEQPR RAQRVLGSPQ
RWAIGSSSGC PRGAYRAPAP AGTFGLQSAR GCVPCNCNSF GSKSFDCEES GQCWCQPGVT
GKKCDRCAHG YFNFQEGGCT ACECSHLGNN CDPKTGRCIC PPNTIGEKCS KCAPNTWGHS
ITTGCKACNC STVGSLDFQC NVNTGQCNCH PKFSGAKCTE CSRGHWNYPR CNLCDCFLPG
TDATTCDSET KKCSCSDQTG QCTCKVNVEG IHCDRCRPGK FGLDAKNPLG CSSCYCFGTT
TQCSEAKGLI RTWVTLKAEQ TILPLVDEAL QHTTTKGIVF QHPEIVAHMD LMREDLHLEP
FYWKLPEQFE GKKLMAYGGK LKYAIYFEAR EETGFSTYNP QVIIRGGTPT HARIIVRHMA
APLIGQLTRH EIEMTEKEWK YYGDDPRVHR TVTREDFLDI LYDIHYILIK ATYGNFMRQS
RISEISMEVA EQGRGTTMTP PADLIEKCDC PLGYSGLSCE ACLPGFYRLR SQPGGRTPGP
TLGTCVPCQC NGHSSLCDPE TSICQNCQHH TAGDFCERCA LGYYGIVKGL PNDCQQCACP
LISSSNNFSP SCVAEGLDDY RCTACPRGYE GQYCERCAPG YTGSPGNPGG SCQECECDPY
GSLPVPCDPV TGFCTCRPGA TGRKCDGCKH WHAREGWECV FCGDECTGLL LGDLARLEQM
VMSINLTGPL PAPYKMLYGL ENMTQELKHL LSPQRAPERL IQLAEGNLNT LVTEMNELLT
RATKMTADGE QTGQDAERTN TRAKSLGEFI KELARDAEAV NEKAIKLNET LGTRDEAFER
NLEGLQKEID QMIKELRRKN LETQKEIAED ELVAAEALLK KVKKLFGESR GENEEMEKDL
REKLADYKNK VDDAWDLLRE ATDKIREANR LFAVNQKNMT ALEKKKEAVE SGKRQIENTL
KEGNDILDEA NRLADEINSI IDYVEDIQTK LPPMSEELND KIDDLSQEIK DRKLAEKVSQ
AESHAAQLND SSAVLDGILD EAKNISFNAT AAFKAYSNIK DYIDEAEKVA KEAKDLAHEA
TKLATGPRGL LKEDAKGCLQ KSFRILNEAK KLANDVKENE DHLNGLKTRI ENADARNGDL
LRTLNDTLGK LSAIPNDTAA KLQAVKDKAR QANDTAKDVL AQITELHQNL DGLKKNYNKL
ADSVAKTNAV VKDPSKNKII ADADATVKNL EQEADRLIDK LKPIKELEDN LKKNISEIKE
LINQARKQAN SIKVSVSSGG DCIRTYKPEI KKGSYNNIVV NVKTAVADNL LFYLGSAKFI
DFLAIEMRKG KVSFLWDVGS GVGRVEYPDL TIDDSYWYRI VASRTGRNGT ISVRALDGPK
ASIVPSTHHS TSPPGYTILD VDANAMLFVG GLTGKLKKAD AVRVITFTGC MGETYFDNKP
IGLWNFREKE GDCKGCTVSP QVEDSEGTIQ FDGEGYALVS RPIRWYPNIS TVMFKFRTFS
SSALLMYLAT RDLRDFMSVE LTDGHIKVSY DLGSGMASVV SNQNHNDGKW KSFTLSRIQK
QANISIVDID TNQEENIATS SSGNNFGLDL KADDKIYFGG LPTLRNLSMK ARPEVNLKKY
SGCLKDIEIS RTPYNILSSP DYVGVTKGCS LENVYTVSFP KPGFVELSPV PIDVGTEINL
SFSTKNESGI ILLGSGGTPA PPRRKRRQTG QAYYAILLNR GRLEVHLSTG ARTMRKIVIR
PEPNLFHDGR EHSVHVERTR GIFTVQVDEN RRYMQNLTVE QPIEVKKLFV GGAPPEFQPS
PLRNIPPFEG CIWNLVINSV PMDFARPVSF KNADIGRCAH QKLREDEDGA APAEIVIQPE
PVPTPAFPTP TPVLTHGPCA AESEPALLIG SKQFGLSRNS HIAIAFDDTK VKNRLTIELE
VRTEAESGLL FYMARINHAD FATVQLRNGL PYFSYDLGSG DTHTMIPTKI NDGQWHKIKI
MRSKQEGILY VDGASNRTIS PKKADILDVV GMLYVGGLPI NYTTRRIGPV TYSIDGCVRN
LHMAEAPADL EQPTSSFHVG TCFANAQRGT YFDGTGFAKA VGGFKVGLDL LVEFEFRTTT
TTGVLLGISS QKMDGMGIEM IDEKLMFHVD NGAGRFTAVY DAGVPGHLCD GQWHKVTANK
IKHRIELTVD GNQVEAQSPN PASTSADTND PVFVGGFPDD LKQFGLTTSI PFRGCIRSLK
LTKGTGKPLE VNFAKALELR GVQPVSCPAN *

Position of stopcodon in wt / mu CDS

9633 / 9633

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

3211 / 3211

Position of stopcodon in wt / mu cDNA

9741 / 9741

Position of start ATG in wt / mu cDNA

109 / 109

Last intron/exon boundary

9583

Theoretical NMD boundary in CDS

9424

Length of CDS

9633

Coding sequence (CDS) position

5233

cDNA position

5341

gDNA position

499994

Chromosomal position

129383131

Speed

0.11 s

MutationT@ster 2025

Transcript summary:

MutationT@ster 2025

Variant:

6:129383131G>A_2_ENST00000421865

Prediction:

Summary:

MutationT@ster 2025

Variant:

6:129383131G>A_1_ENST00000617695

Prediction:

Summary:

MutationT@ster 2025

Variant:

6:129383131G>A_3_ENST00000618192

Prediction:

Summary: