No paralogue variants have been mapped to residue 1569 for SCN5A.
SCN5A | CLNMVTMMVETDDQSPEKINILAKINLLFV>A<IFTGECIVKLAALR-HYYFTNSWNIFDFVV | 1598 |
SCN1A | CLNMVTMMVETDDQSEYVTTILSRINLVFI>V<LFTGECVLKLISLR-HYYFTIGWNIFDFVV | 1611 |
SCN2A | CLNMVTMMVETDDQSQEMTNILYWINLVFI>V<LFTGECVLKLISLR-YYYFTIGWNIFDFVV | 1601 |
SCN3A | CLNMVTMMVETDDQGKYMTLVLSRINLVFI>V<LFTGEFVLKLVSLR-HYYFTIGWNIFDFVV | 1596 |
SCN4A | CLNMVTMMVETDNQSQLKVDILYNINMIFI>I<IFTGECVLKMLALR-QYYFTVGWNIFDFVV | 1423 |
SCN7A | CFQAIAMMIDTDVQSLQMSIALYWINSIFV>M<LYTMECILKLIAFR-CFYFTIAWNIFDFMV | 1321 |
SCN8A | CLNMVTMMVETDTQSKQMENILYWINLVFV>I<FFTCECVLKMFALR-HYYFTIGWNIFDFVV | 1592 |
SCN9A | CLNMVTMMVEKEGQSQHMTEVLYWINVVFI>I<LFTGECVLKLISLR-HYYFTVGWNIFDFVV | 1574 |
SCN10A | CLNMITMMVETDDQSEEKTKILGKINQFFV>A<VFTGECVMKMFALR-QYYFTNGWNVFDFIV | 1546 |
SCN11A | ILNMISMMAESYNQPKAMKSILDHLNWVFV>V<IFTLECLIKIFALR-QYYFTNGWNLFDCVV | 1436 |
CACNA1A | ALNTIVLMMKFYGASVAYENALRVFNIVFT>S<LFSLECVLKVMAFGILNYFRDAWNIFDFVT | 1637 |
CACNA1B | ALNTVVLMMKFYDAPYEYELMLKCLNIVFT>S<MFSMECVLKIIAFGVLNYFRDAWNVFDFVT | 1543 |
CACNA1C | LLNTICLAMQHYGQSCLFKIAMNILNMLFT>G<LFTVEMILKLIAFKPKHYFCDAWNTFDALI | 1290 |
CACNA1D | MLNTLCLAMQHYEQSKMFNDAMDILNMVFT>G<VFTVEMVLKVIAFKPKGYFSDAWNTFDSLI | 1296 |
CACNA1E | ALNTVVLMMKYYSAPCTYELALKYLNIAFT>M<VFSLECVLKVIAFGFLNYFRDTWNIFDFIT | 1549 |
CACNA1F | LLNTVALAMQHYEQTAPFNYAMDILNMVFT>G<LFTIEMVLKIIAFKPKHYFTDAWNTFDALI | 1261 |
CACNA1G | GLNVVTMAMEHYQQPQILDEALKICNYIFT>V<IFVLESVFKLVAFGFRRFFQDRWNQLDLAI | 1682 |
CACNA1H | CVNVITMSMEHYNQPKSLDEALKYCNYVFT>I<VFVFEAALKLVAFGFRRFFKDRWNQLDLAI | 1688 |
CACNA1I | CLNVVTMSLEHYNQPTSLETALKYCNYMFT>T<VFVLEAVLKLVAFGLRRFFKDRWNQLDLAI | 1558 |
CACNA1S | MLNTICLGMQHYNQSEQMNHISDILNVAFT>I<IFTLEMILKLMAFKARGYFGDPWNVFDFLI | 1189 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1569P | c.4705G>C | Inherited Arrhythmia | BrS | rs199473273 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | BrS | Double SCN5A mutation underlying asymptomatic Brugada syndrome. Heart Rhythm. 2005 2(3):285-92. 15851320 |