No paralogue variants have been mapped to residue 1543 for SCN5A.
SCN5A | PLNKYQGFIFDIVTKQAFDVTIMFLICLNM>V<TMMVETDDQSPEKINILAKINLLFVAIFTG | 1573 |
SCN1A | PGNKFQGMVFDFVTRQVFDISIMILICLNM>V<TMMVETDDQSEYVTTILSRINLVFIVLFTG | 1586 |
SCN2A | PANKFQGMVFDFVTKQVFDISIMILICLNM>V<TMMVETDDQSQEMTNILYWINLVFIVLFTG | 1576 |
SCN3A | PANKFQGMVFDFVTRQVFDISIMILICLNM>V<TMMVETDDQGKYMTLVLSRINLVFIVLFTG | 1571 |
SCN4A | PQNKIQGMVYDLVTKQAFDITIMILICLNM>V<TMMVETDNQSQLKVDILYNINMIFIIIFTG | 1398 |
SCN7A | PLNKLQGFIFDVVTSQAFNVIVMVLICFQA>I<AMMIDTDVQSLQMSIALYWINSIFVMLYTM | 1296 |
SCN8A | PLNKIQGIVFDFVTQQAFDIVIMMLICLNM>V<TMMVETDTQSKQMENILYWINLVFVIFFTC | 1567 |
SCN9A | PGNKIQGCIFDLVTNQAFDISIMVLICLNM>V<TMMVEKEGQSQHMTEVLYWINVVFIILFTG | 1549 |
SCN10A | PLNKFQGFVFDIVTRQAFDITIMVLICLNM>I<TMMVETDDQSEEKTKILGKINQFFVAVFTG | 1521 |
SCN11A | PLNKCQGLVFDIVTSQIFDIIIISLIILNM>I<SMMAESYNQPKAMKSILDHLNWVFVVIFTL | 1411 |
CACNA1A | NKQSFQYRMWQFVVSPPFEYTIMAMIALNT>I<VLMMKFYGASVAYENALRVFNIVFTSLFSL | 1611 |
CACNA1B | NRQSFQYKTWTFVVSPPFEYFIMAMIALNT>V<VLMMKFYDAPYEYELMLKCLNIVFTSMFSM | 1517 |
CACNA1C | --NQHQYKVWYVVNSTYFEYLMFVLILLNT>I<CLAMQHYGQSCLFKIAMNILNMLFTGLFTV | 1264 |
CACNA1D | --NPYQYKFWYVVNSSPFEYMMFVLIMLNT>L<CLAMQHYEQSKMFNDAMDILNMVFTGVFTV | 1270 |
CACNA1E | NRHTFQYRVWHFVVSPSFEYTIMAMIALNT>V<VLMMKYYSAPCTYELALKYLNIAFTMVFSL | 1523 |
CACNA1F | --NPHQYRVWATVNSAAFEYLMFLLILLNT>V<ALAMQHYEQTAPFNYAMDILNMVFTGLFTI | 1235 |
CACNA1G | DYSRFRLLVHHLCTSHYLDLFITGVIGLNV>V<TMAMEHYQQPQILDEALKICNYIFTVIFVL | 1656 |
CACNA1H | DYSPTRRSIHSLCTSHYLDLFITFIICVNV>I<TMSMEHYNQPKSLDEALKYCNYVFTIVFVF | 1662 |
CACNA1I | TYCHTRLLIHSMCTSHYLDIFITFIICLNV>V<TMSLEHYNQPTSLETALKYCNYMFTTVFVL | 1532 |
CACNA1S | --NPYQYQVWYIVTSSYFEYLMFALIMLNT>I<CLGMQHYNQSEQMNHISDILNVAFTIIFTL | 1163 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1543A | c.4628T>C | Cardiomyopathy | DCM | SIFT: Polyphen: | |
Reports | Cardiomyopathy | DCM | Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. J Med Genet. 2013 50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. 23785128 | ||
p.V1543L | c.4627G>C | Putative Benign | SIFT: Polyphen: |