Paralogue Annotation for SCN5A residue 1571

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1571
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1571

No paralogue variants have been mapped to residue 1571 for SCN5A.



SCN5ANMVTMMVETDDQSPEKINILAKINLLFVAI>F<TGECIVKLAALR-HYYFTNSWNIFDFVVVI1600
SCN1ANMVTMMVETDDQSEYVTTILSRINLVFIVL>F<TGECVLKLISLR-HYYFTIGWNIFDFVVVI1613
SCN2ANMVTMMVETDDQSQEMTNILYWINLVFIVL>F<TGECVLKLISLR-YYYFTIGWNIFDFVVVI1603
SCN3ANMVTMMVETDDQGKYMTLVLSRINLVFIVL>F<TGEFVLKLVSLR-HYYFTIGWNIFDFVVVI1598
SCN4ANMVTMMVETDNQSQLKVDILYNINMIFIII>F<TGECVLKMLALR-QYYFTVGWNIFDFVVVI1425
SCN7AQAIAMMIDTDVQSLQMSIALYWINSIFVML>Y<TMECILKLIAFR-CFYFTIAWNIFDFMVVI1323
SCN8ANMVTMMVETDTQSKQMENILYWINLVFVIF>F<TCECVLKMFALR-HYYFTIGWNIFDFVVVI1594
SCN9ANMVTMMVEKEGQSQHMTEVLYWINVVFIIL>F<TGECVLKLISLR-HYYFTVGWNIFDFVVVI1576
SCN10ANMITMMVETDDQSEEKTKILGKINQFFVAV>F<TGECVMKMFALR-QYYFTNGWNVFDFIVVV1548
SCN11ANMISMMAESYNQPKAMKSILDHLNWVFVVI>F<TLECLIKIFALR-QYYFTNGWNLFDCVVVL1438
CACNA1ANTIVLMMKFYGASVAYENALRVFNIVFTSL>F<SLECVLKVMAFGILNYFRDAWNIFDFVTVL1639
CACNA1BNTVVLMMKFYDAPYEYELMLKCLNIVFTSM>F<SMECVLKIIAFGVLNYFRDAWNVFDFVTVL1545
CACNA1CNTICLAMQHYGQSCLFKIAMNILNMLFTGL>F<TVEMILKLIAFKPKHYFCDAWNTFDALIVV1292
CACNA1DNTLCLAMQHYEQSKMFNDAMDILNMVFTGV>F<TVEMVLKVIAFKPKGYFSDAWNTFDSLIVI1298
CACNA1ENTVVLMMKYYSAPCTYELALKYLNIAFTMV>F<SLECVLKVIAFGFLNYFRDTWNIFDFITVI1551
CACNA1FNTVALAMQHYEQTAPFNYAMDILNMVFTGL>F<TIEMVLKIIAFKPKHYFTDAWNTFDALIVV1263
CACNA1GNVVTMAMEHYQQPQILDEALKICNYIFTVI>F<VLESVFKLVAFGFRRFFQDRWNQLDLAIVL1684
CACNA1HNVITMSMEHYNQPKSLDEALKYCNYVFTIV>F<VFEAALKLVAFGFRRFFKDRWNQLDLAIVL1690
CACNA1INVVTMSLEHYNQPTSLETALKYCNYMFTTV>F<VLEAVLKLVAFGLRRFFKDRWNQLDLAIVL1560
CACNA1SNTICLGMQHYNQSEQMNHISDILNVAFTII>F<TLEMILKLMAFKARGYFGDPWNVFDFLIVI1191
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1571Cc.4712T>G Inherited ArrhythmiaBrSrs199473274SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283