MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000298910
Querying Taster for transcript #2: ENST00000680790
MT speed 0.23 s - this script 2.668071 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000298910(MANE Select)	LRRK2	Deleterious	88\|12	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000680790	LRRK2	Deleterious	100\|0	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

12:40340400G>A_1_ENST00000298910

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:40340400G>A (GRCh38)

Gene symbol

LRRK2

Gene constraints

LOEUF: 0.78, LOF (oe): 0.69, misssense (oe): 0.91, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000298910.12

Genbank transcript ID

NM_198578 (exact from MANE)

UniProt / AlphaMissense peptide

LRRK2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.6055G>A
g.143657G>A

AA changes

AAE:	G2019S	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34637584
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	662	663

Protein conservation

Species	Match	AA	Alignment
Human		2019	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K	T
mutated	not conserved	2019	N	A	A	I	I	A	K	I	A	D	Y	S	I	A	Q	Y	C	C	R	M	G	I	K
Ptroglodytes	all identical	2019	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K
Mmulatta	all identical	2019	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K
Fcatus	all identical	2019	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K
Mmusculus	all identical	2019	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K
Ggallus	all identical	2022	N	A	A	V	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	2011	N	S	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K

Protein features

Start (aa)	End (aa)	Feature	Details
1	2527	CHAIN		lost
1879	2138	DOMAIN	Protein kinase	lost
2018	2025	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.15	0.63
	9.657	1
(flanking)	9.657	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

1

Original gDNA sequence snippet

TTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGT

Altered gDNA sequence snippet

TTGCAAAGATTGCTGACTACAGCATTGCTCAGTACTGCTGT

Original cDNA sequence snippet

TTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGT

Altered cDNA sequence snippet

TTGCAAAGATTGCTGACTACAGCATTGCTCAGTACTGCTGT

Wildtype AA sequence

MASGSCQGCE EDEETLKKLI VRLNNVQEGK QIETLVQILE DLLVFTYSER ASKLFQGKNI
HVPLLIVLDS YMRVASVQQV GWSLLCKLIE VCPGTMQSLM GPQDVGNDWE VLGVHQLILK
MLTVHNASVN LSVIGLKTLD LLLTSGKITL LILDEESDIF MLIFDAMHSF PANDEVQKLG
CKALHVLFER VSEEQLTEFV ENKDYMILLS ALTNFKDEEE IVLHVLHCLH SLAIPCNNVE
VLMSGNVRCY NIVVEAMKAF PMSERIQEVS CCLLHRLTLG NFFNILVLNE VHEFVVKAVQ
QYPENAALQI SALSCLALLT ETIFLNQDLE EKNENQENDD EGEEDKLFWL EACYKALTWH
RKNKHVQEAA CWALNNLLMY QNSLHEKIGD EDGHFPAHRE VMLSMLMHSS SKEVFQASAN
ALSTLLEQNV NFRKILLSKG IHLNVLELMQ KHIHSPEVAE SGCKMLNHLF EGSNTSLDIM
AAVVPKILTV MKRHETSLPV QLEALRAILH FIVPGMPEES REDTEFHHKL NMVKKQCFKN
DIHKLVLAAL NRFIGNPGIQ KCGLKVISSI VHFPDALEML SLEGAMDSVL HTLQMYPDDQ
EIQCLGLSLI GYLITKKNVF IGTGHLLAKI LVSSLYRFKD VAEIQTKGFQ TILAILKLSA
SFSKLLVHHS FDLVIFHQMS SNIMEQKDQQ FLNLCCKCFA KVAMDDYLKN VMLERACDQN
NSIMVECLLL LGADANQAKE GSSLICQVCE KESSPKLVEL LLNSGSREQD VRKALTISIG
KGDSQIISLL LRRLALDVAN NSICLGGFCI GKVEPSWLGP LFPDKTSNLR KQTNIASTLA
RMVIRYQMKS AVEEGTASGS DGNFSEDVLS KFDEWTFIPD SSMDSVFAQS DDLDSEGSEG
SFLVKKKSNS ISVGEFYRDA VLQRCSPNLQ RHSNSLGPIF DHEDLLKRKR KILSSDDSLR
SSKLQSHMRH SDSISSLASE REYITSLDLS ANELRDIDAL SQKCCISVHL EHLEKLELHQ
NALTSFPQQL CETLKSLTHL DLHSNKFTSF PSYLLKMSCI ANLDVSRNDI GPSVVLDPTV
KCPTLKQFNL SYNQLSFVPE NLTDVVEKLE QLILEGNKIS GICSPLRLKE LKILNLSKNH
ISSLSENFLE ACPKVESFSA RMNFLAAMPF LPPSMTILKL SQNKFSCIPE AILNLPHLRS
LDMSSNDIQY LPGPAHWKSL NLRELLFSHN QISILDLSEK AYLWSRVEKL HLSHNKLKEI
PPEIGCLENL TSLDVSYNLE LRSFPNEMGK LSKIWDLPLD ELHLNFDFKH IGCKAKDIIR
FLQQRLKKAV PYNRMKLMIV GNTGSGKTTL LQQLMKTKKS DLGMQSATVG IDVKDWPIQI
RDKRKRDLVL NVWDFAGREE FYSTHPHFMT QRALYLAVYD LSKGQAEVDA MKPWLFNIKA
RASSSPVILV GTHLDVSDEK QRKACMSKIT KELLNKRGFP AIRDYHFVNA TEESDALAKL
RKTIINESLN FKIRDQLVVG QLIPDCYVEL EKIILSERKN VPIEFPVIDR KRLLQLVREN
QLQLDENELP HAVHFLNESG VLLHFQDPAL QLSDLYFVEP KWLCKIMAQI LTVKVEGCPK
HPKGIISRRD VEKFLSKKRK FPKNYMSQYF KLLEKFQIAL PIGEEYLLVP SSLSDHRPVI
ELPHCENSEI IIRLYEMPYF PMGFWSRLIN RLLEISPYML SGRERALRPN RMYWRQGIYL
NWSPEAYCLV GSEVLDNHPE SFLKITVPSC RKGCILLGQV VDHIDSLMEE WFPGLLEIDI
CGEGETLLKK WALYSFNDGE EHQKILLDDL MKKAEEGDLL VNPDQPRLTI PISQIAPDLI
LADLPRNIML NNDELEFEQA PEFLLGDGSF GSVYRAAYEG EEVAVKIFNK HTSLRLLRQE
LVVLCHLHHP SLISLLAAGI RPRMLVMELA SKGSLDRLLQ QDKASLTRTL QHRIALHVAD
GLRYLHSAMI IYRDLKPHNV LLFTLYPNAA IIAKIADYGI AQYCCRMGIK TSEGTPGFRA
PEVARGNVIY NQQADVYSFG LLLYDILTTG GRIVEGLKFP NEFDELEIQG KLPDPVKEYG
CAPWPMVEKL IKQCLKENPQ ERPTSAQVFD ILNSAELVCL TRRILLPKNV IVECMVATHH
NSRNASIWLG CGHTDRGQLS FLDLNTEGYT SEEVADSRIL CLALVHLPVE KESWIVSGTQ
SGTLLVINTE DGKKRHTLEK MTDSVTCLYC NSFSKQSKQK NFLLVGTADG KLAIFEDKTV
KLKGAAPLKI LNIGNVSTPL MCLSESTNST ERNVMWGGCG TKIFSFSNDF TIQKLIETRT
SQLFSYAAFS DSNIITVVVD TALYIAKQNS PVVEVWDKKT EKLCGLIDCV HFLREVMVKE
NKESKHKMSY SGRVKTLCLQ KNTALWIGTG GGHILLLDLS TRRLIRVIYN FCNSVRVMMT
AQLGSLKNVM LVLGYNRKNT EGTQKQKEIQ SCLTVWDINL PHEVQNLEKH IEVRKELAEK
MRRTSVE*

Mutated AA sequence

MASGSCQGCE EDEETLKKLI VRLNNVQEGK QIETLVQILE DLLVFTYSER ASKLFQGKNI
HVPLLIVLDS YMRVASVQQV GWSLLCKLIE VCPGTMQSLM GPQDVGNDWE VLGVHQLILK
MLTVHNASVN LSVIGLKTLD LLLTSGKITL LILDEESDIF MLIFDAMHSF PANDEVQKLG
CKALHVLFER VSEEQLTEFV ENKDYMILLS ALTNFKDEEE IVLHVLHCLH SLAIPCNNVE
VLMSGNVRCY NIVVEAMKAF PMSERIQEVS CCLLHRLTLG NFFNILVLNE VHEFVVKAVQ
QYPENAALQI SALSCLALLT ETIFLNQDLE EKNENQENDD EGEEDKLFWL EACYKALTWH
RKNKHVQEAA CWALNNLLMY QNSLHEKIGD EDGHFPAHRE VMLSMLMHSS SKEVFQASAN
ALSTLLEQNV NFRKILLSKG IHLNVLELMQ KHIHSPEVAE SGCKMLNHLF EGSNTSLDIM
AAVVPKILTV MKRHETSLPV QLEALRAILH FIVPGMPEES REDTEFHHKL NMVKKQCFKN
DIHKLVLAAL NRFIGNPGIQ KCGLKVISSI VHFPDALEML SLEGAMDSVL HTLQMYPDDQ
EIQCLGLSLI GYLITKKNVF IGTGHLLAKI LVSSLYRFKD VAEIQTKGFQ TILAILKLSA
SFSKLLVHHS FDLVIFHQMS SNIMEQKDQQ FLNLCCKCFA KVAMDDYLKN VMLERACDQN
NSIMVECLLL LGADANQAKE GSSLICQVCE KESSPKLVEL LLNSGSREQD VRKALTISIG
KGDSQIISLL LRRLALDVAN NSICLGGFCI GKVEPSWLGP LFPDKTSNLR KQTNIASTLA
RMVIRYQMKS AVEEGTASGS DGNFSEDVLS KFDEWTFIPD SSMDSVFAQS DDLDSEGSEG
SFLVKKKSNS ISVGEFYRDA VLQRCSPNLQ RHSNSLGPIF DHEDLLKRKR KILSSDDSLR
SSKLQSHMRH SDSISSLASE REYITSLDLS ANELRDIDAL SQKCCISVHL EHLEKLELHQ
NALTSFPQQL CETLKSLTHL DLHSNKFTSF PSYLLKMSCI ANLDVSRNDI GPSVVLDPTV
KCPTLKQFNL SYNQLSFVPE NLTDVVEKLE QLILEGNKIS GICSPLRLKE LKILNLSKNH
ISSLSENFLE ACPKVESFSA RMNFLAAMPF LPPSMTILKL SQNKFSCIPE AILNLPHLRS
LDMSSNDIQY LPGPAHWKSL NLRELLFSHN QISILDLSEK AYLWSRVEKL HLSHNKLKEI
PPEIGCLENL TSLDVSYNLE LRSFPNEMGK LSKIWDLPLD ELHLNFDFKH IGCKAKDIIR
FLQQRLKKAV PYNRMKLMIV GNTGSGKTTL LQQLMKTKKS DLGMQSATVG IDVKDWPIQI
RDKRKRDLVL NVWDFAGREE FYSTHPHFMT QRALYLAVYD LSKGQAEVDA MKPWLFNIKA
RASSSPVILV GTHLDVSDEK QRKACMSKIT KELLNKRGFP AIRDYHFVNA TEESDALAKL
RKTIINESLN FKIRDQLVVG QLIPDCYVEL EKIILSERKN VPIEFPVIDR KRLLQLVREN
QLQLDENELP HAVHFLNESG VLLHFQDPAL QLSDLYFVEP KWLCKIMAQI LTVKVEGCPK
HPKGIISRRD VEKFLSKKRK FPKNYMSQYF KLLEKFQIAL PIGEEYLLVP SSLSDHRPVI
ELPHCENSEI IIRLYEMPYF PMGFWSRLIN RLLEISPYML SGRERALRPN RMYWRQGIYL
NWSPEAYCLV GSEVLDNHPE SFLKITVPSC RKGCILLGQV VDHIDSLMEE WFPGLLEIDI
CGEGETLLKK WALYSFNDGE EHQKILLDDL MKKAEEGDLL VNPDQPRLTI PISQIAPDLI
LADLPRNIML NNDELEFEQA PEFLLGDGSF GSVYRAAYEG EEVAVKIFNK HTSLRLLRQE
LVVLCHLHHP SLISLLAAGI RPRMLVMELA SKGSLDRLLQ QDKASLTRTL QHRIALHVAD
GLRYLHSAMI IYRDLKPHNV LLFTLYPNAA IIAKIADYSI AQYCCRMGIK TSEGTPGFRA
PEVARGNVIY NQQADVYSFG LLLYDILTTG GRIVEGLKFP NEFDELEIQG KLPDPVKEYG
CAPWPMVEKL IKQCLKENPQ ERPTSAQVFD ILNSAELVCL TRRILLPKNV IVECMVATHH
NSRNASIWLG CGHTDRGQLS FLDLNTEGYT SEEVADSRIL CLALVHLPVE KESWIVSGTQ
SGTLLVINTE DGKKRHTLEK MTDSVTCLYC NSFSKQSKQK NFLLVGTADG KLAIFEDKTV
KLKGAAPLKI LNIGNVSTPL MCLSESTNST ERNVMWGGCG TKIFSFSNDF TIQKLIETRT
SQLFSYAAFS DSNIITVVVD TALYIAKQNS PVVEVWDKKT EKLCGLIDCV HFLREVMVKE
NKESKHKMSY SGRVKTLCLQ KNTALWIGTG GGHILLLDLS TRRLIRVIYN FCNSVRVMMT
AQLGSLKNVM LVLGYNRKNT EGTQKQKEIQ SCLTVWDINL PHEVQNLEKH IEVRKELAEK
MRRTSVE*

Position of stopcodon in wt / mu CDS

7584 / 7584

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

2528 / 2528

Position of stopcodon in wt / mu cDNA

7719 / 7719

Position of start ATG in wt / mu cDNA

136 / 136

Last intron/exon boundary

7597

Theoretical NMD boundary in CDS

7411

Length of CDS

7584

Coding sequence (CDS) position

6055

cDNA position

6190

gDNA position

143657

Chromosomal position

40340400

Speed

0.12 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

MutationT@ster 2025

Variant:

12:40340400G>A_2_ENST00000680790

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:40340400G>A (GRCh38)

Gene symbol

LRRK2

Gene constraints

LOEUF: 0.78, LOF (oe): 0.68, misssense (oe): 0.91, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000680790.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.5800G>A
g.143657G>A

AA changes

AAE:	G1934S	?
Score:	56

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs34637584
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	662	663

Protein conservation

Species	Match	AA	Alignment
Human		1934	N	A	A	I	I	A	K	I	A	D	Y	G	I	A	Q	Y	C	C	R	M	G	I	K	T
mutated	not conserved	1934	N	A	A	I	I	A	K	I	A	D	Y	S	I	A	Q	Y	C	C	R	M	G	I	K
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)	-0.15	0.63
	9.657	1
(flanking)	9.657	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

12

Strand

1

Original gDNA sequence snippet

TTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGT

Altered gDNA sequence snippet

TTGCAAAGATTGCTGACTACAGCATTGCTCAGTACTGCTGT

Original cDNA sequence snippet

TTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGT

Altered cDNA sequence snippet

TTGCAAAGATTGCTGACTACAGCATTGCTCAGTACTGCTGT

Wildtype AA sequence

MASGSCQGCE EDEETLKKLI VRLNNVQEGK QIETLVQILE DLLVFTYSER ASKLFQGKNI
HVPLLIVLDS YMRVASVQQV GWSLLCKLIE VCPGTMQSLM GPQDVGNDWE VLGVHQLILK
MLTVHNASVN LSVIGLKTLD LLLTSGKITL LILDEESDIF MLIFDAMHSF PANDEVQKLG
CKALHVLFER VSEEQLTEFV ENKDYMILLS ALTNFKDEEE IVLHVLHCLH SLAIPCNNVE
VLMSGNVRCY NIVVEAMKAF PMSERIQEVS CCLLHRLTLG NFFNILVLNE VHEFVVKAVQ
QYPENAALQI SALSCLALLT ETIFLNQDLE EKNENQENDD EGEEDKLFWL EACYKALTWH
RKNKHVQEAA CWALNNLLMY QNSLHEKIGD EDGHFPAHRE VMLSMLMHSS SKEVFQASAN
ALSTLLEQNG MPEESREDTE FHHKLNMVKK QCFKNDIHKL VLAALNRFIG NPGIQKCGLK
VISSIVHFPD ALEMLSLEGA MDSVLHTLQM YPDDQEIQCL GLSLIGYLIT KKNVFIGTGH
LLAKILVSSL YRFKDVAEIQ TKGFQTILAI LKLSASFSKL LVHHSFDLVI FHQMSSNIME
QKDQQFLNLC CKCFAKVAMD DYLKNVMLER ACDQNNSIMV ECLLLLGADA NQAKEGSSLI
CQVCEKESSP KLVELLLNSG SREQDVRKAL TISIGKGDSQ IISLLLRRLA LDVANNSICL
GGFCIGKVEP SWLGPLFPDK TSNLRKQTNI ASTLARMVIR YQMKSAVEEG TASGSDGNFS
EDVLSKFDEW TFIPDSSMDS VFAQSDDLDS EGSEGSFLVK KKSNSISVGE FYRDAVLQRC
SPNLQRHSNS LGPIFDHEDL LKRKRKILSS DDSLRSSKLQ SHMRHSDSIS SLASEREYIT
SLDLSANELR DIDALSQKCC ISVHLEHLEK LELHQNALTS FPQQLCETLK SLTHLDLHSN
KFTSFPSYLL KMSCIANLDV SRNDIGPSVV LDPTVKCPTL KQFNLSYNQL SFVPENLTDV
VEKLEQLILE GNKISGICSP LRLKELKILN LSKNHISSLS ENFLEACPKV ESFSARMNFL
AAMPFLPPSM TILKLSQNKF SCIPEAILNL PHLRSLDMSS NDIQYLPGPA HWKSLNLREL
LFSHNQISIL DLSEKAYLWS RVEKLHLSHN KLKEIPPEIG CLENLTSLDV SYNLELRSFP
NEMGKLSKIW DLPLDELHLN FDFKHIGCKA KDIIRFLQQR LKKAVPYNRM KLMIVGNTGS
GKTTLLQQLM KTKKSDLGMQ SATVGIDVKD WPIQIRDKRK RDLVLNVWDF AGREEFYSTH
PHFMTQRALY LAVYDLSKGQ AEVDAMKPWL FNIKARASSS PVILVGTHLD VSDEKQRKAC
MSKITKELLN KRGFPAIRDY HFVNATEESD ALAKLRKTII NESLNFKIRD QLVVGQLIPD
CYVELEKIIL SERKNVPIEF PVIDRKRLLQ LVRENQLQLD ENELPHAVHF LNESGVLLHF
QDPALQLSDL YFVEPKWLCK IMAQILTVKV EGCPKHPKGI ISRRDVEKFL SKKRKFPKNY
MSQYFKLLEK FQIALPIGEE YLLVPSSLSD HRPVIELPHC ENSEIIIRLY EMPYFPMGFW
SRLINRLLEI SPYMLSGRER ALRPNRMYWR QGIYLNWSPE AYCLVGSEVL DNHPESFLKI
TVPSCRKGCI LLGQVVDHID SLMEEWFPGL LEIDICGEGE TLLKKWALYS FNDGEEHQKI
LLDDLMKKAE EGDLLVNPDQ PRLTIPISQI APDLILADLP RNIMLNNDEL EFEQAPEFLL
GDGSFGSVYR AAYEGEEVAV KIFNKHTSLR LLRQELVVLC HLHHPSLISL LAAGIRPRML
VMELASKGSL DRLLQQDKAS LTRTLQHRIA LHVADGLRYL HSAMIIYRDL KPHNVLLFTL
YPNAAIIAKI ADYGIAQYCC RMGIKTSEGT PGFRAPEVAR GNVIYNQQAD VYSFGLLLYD
ILTTGGRIVE GLKFPNEFDE LEIQGKLPDP VKEYGCAPWP MVEKLIKQCL KENPQERPTS
AQVFDILNSA ELVCLTRRIL LPKNVIVECM VATHHNSRNA SIWLGCGHTD RGQLSFLDLN
TEGYTSEEVA DSRILCLALV HLPVEKESWI VSGTQSGTLL VINTEDGKKR HTLEKMTDSV
TCLYCNSFSK QSKQKNFLLV GTADGKLAIF EDKTVKLKGA APLKILNIGN VSTPLMCLSE
STNSTERNVM WGGCGTKIFS FSNDFTIQKL IETRTSQLFS YAAFSDSNII TVVVDTALYI
AKQNSPVVEV WDKKTEKLCG LIDCVHFLRE VMVKENKESK HKMSYSGRVK TLCLQKNTAL
WIGTGGGHIL LLDLSTRRLI RVIYNFCNSV RVMMTAQLGS LKNVMLVLGY NRKNTEGTQK
QKEIQSCLTV WDINLPHEVQ NLEKHIEVRK ELAEKMRRTS VE*

Mutated AA sequence

MASGSCQGCE EDEETLKKLI VRLNNVQEGK QIETLVQILE DLLVFTYSER ASKLFQGKNI
HVPLLIVLDS YMRVASVQQV GWSLLCKLIE VCPGTMQSLM GPQDVGNDWE VLGVHQLILK
MLTVHNASVN LSVIGLKTLD LLLTSGKITL LILDEESDIF MLIFDAMHSF PANDEVQKLG
CKALHVLFER VSEEQLTEFV ENKDYMILLS ALTNFKDEEE IVLHVLHCLH SLAIPCNNVE
VLMSGNVRCY NIVVEAMKAF PMSERIQEVS CCLLHRLTLG NFFNILVLNE VHEFVVKAVQ
QYPENAALQI SALSCLALLT ETIFLNQDLE EKNENQENDD EGEEDKLFWL EACYKALTWH
RKNKHVQEAA CWALNNLLMY QNSLHEKIGD EDGHFPAHRE VMLSMLMHSS SKEVFQASAN
ALSTLLEQNG MPEESREDTE FHHKLNMVKK QCFKNDIHKL VLAALNRFIG NPGIQKCGLK
VISSIVHFPD ALEMLSLEGA MDSVLHTLQM YPDDQEIQCL GLSLIGYLIT KKNVFIGTGH
LLAKILVSSL YRFKDVAEIQ TKGFQTILAI LKLSASFSKL LVHHSFDLVI FHQMSSNIME
QKDQQFLNLC CKCFAKVAMD DYLKNVMLER ACDQNNSIMV ECLLLLGADA NQAKEGSSLI
CQVCEKESSP KLVELLLNSG SREQDVRKAL TISIGKGDSQ IISLLLRRLA LDVANNSICL
GGFCIGKVEP SWLGPLFPDK TSNLRKQTNI ASTLARMVIR YQMKSAVEEG TASGSDGNFS
EDVLSKFDEW TFIPDSSMDS VFAQSDDLDS EGSEGSFLVK KKSNSISVGE FYRDAVLQRC
SPNLQRHSNS LGPIFDHEDL LKRKRKILSS DDSLRSSKLQ SHMRHSDSIS SLASEREYIT
SLDLSANELR DIDALSQKCC ISVHLEHLEK LELHQNALTS FPQQLCETLK SLTHLDLHSN
KFTSFPSYLL KMSCIANLDV SRNDIGPSVV LDPTVKCPTL KQFNLSYNQL SFVPENLTDV
VEKLEQLILE GNKISGICSP LRLKELKILN LSKNHISSLS ENFLEACPKV ESFSARMNFL
AAMPFLPPSM TILKLSQNKF SCIPEAILNL PHLRSLDMSS NDIQYLPGPA HWKSLNLREL
LFSHNQISIL DLSEKAYLWS RVEKLHLSHN KLKEIPPEIG CLENLTSLDV SYNLELRSFP
NEMGKLSKIW DLPLDELHLN FDFKHIGCKA KDIIRFLQQR LKKAVPYNRM KLMIVGNTGS
GKTTLLQQLM KTKKSDLGMQ SATVGIDVKD WPIQIRDKRK RDLVLNVWDF AGREEFYSTH
PHFMTQRALY LAVYDLSKGQ AEVDAMKPWL FNIKARASSS PVILVGTHLD VSDEKQRKAC
MSKITKELLN KRGFPAIRDY HFVNATEESD ALAKLRKTII NESLNFKIRD QLVVGQLIPD
CYVELEKIIL SERKNVPIEF PVIDRKRLLQ LVRENQLQLD ENELPHAVHF LNESGVLLHF
QDPALQLSDL YFVEPKWLCK IMAQILTVKV EGCPKHPKGI ISRRDVEKFL SKKRKFPKNY
MSQYFKLLEK FQIALPIGEE YLLVPSSLSD HRPVIELPHC ENSEIIIRLY EMPYFPMGFW
SRLINRLLEI SPYMLSGRER ALRPNRMYWR QGIYLNWSPE AYCLVGSEVL DNHPESFLKI
TVPSCRKGCI LLGQVVDHID SLMEEWFPGL LEIDICGEGE TLLKKWALYS FNDGEEHQKI
LLDDLMKKAE EGDLLVNPDQ PRLTIPISQI APDLILADLP RNIMLNNDEL EFEQAPEFLL
GDGSFGSVYR AAYEGEEVAV KIFNKHTSLR LLRQELVVLC HLHHPSLISL LAAGIRPRML
VMELASKGSL DRLLQQDKAS LTRTLQHRIA LHVADGLRYL HSAMIIYRDL KPHNVLLFTL
YPNAAIIAKI ADYSIAQYCC RMGIKTSEGT PGFRAPEVAR GNVIYNQQAD VYSFGLLLYD
ILTTGGRIVE GLKFPNEFDE LEIQGKLPDP VKEYGCAPWP MVEKLIKQCL KENPQERPTS
AQVFDILNSA ELVCLTRRIL LPKNVIVECM VATHHNSRNA SIWLGCGHTD RGQLSFLDLN
TEGYTSEEVA DSRILCLALV HLPVEKESWI VSGTQSGTLL VINTEDGKKR HTLEKMTDSV
TCLYCNSFSK QSKQKNFLLV GTADGKLAIF EDKTVKLKGA APLKILNIGN VSTPLMCLSE
STNSTERNVM WGGCGTKIFS FSNDFTIQKL IETRTSQLFS YAAFSDSNII TVVVDTALYI
AKQNSPVVEV WDKKTEKLCG LIDCVHFLRE VMVKENKESK HKMSYSGRVK TLCLQKNTAL
WIGTGGGHIL LLDLSTRRLI RVIYNFCNSV RVMMTAQLGS LKNVMLVLGY NRKNTEGTQK
QKEIQSCLTV WDINLPHEVQ NLEKHIEVRK ELAEKMRRTS VE*

Position of stopcodon in wt / mu CDS

7329 / 7329

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

2443 / 2443

Position of stopcodon in wt / mu cDNA

7381 / 7381

Position of start ATG in wt / mu cDNA

53 / 53

Last intron/exon boundary

7259

Theoretical NMD boundary in CDS

7156

Length of CDS

7329

Coding sequence (CDS) position

5800

cDNA position

5852

gDNA position

143657

Chromosomal position

40340400

Speed

0.11 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

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