No paralogue variants have been mapped to residue 1582 for SCN5A.
SCN5A | QSPEKINILAKINLLFVAIFTGECIVKLAA>L<R-HYYFTNSWNIFDFVVVILSIVGTVLSDI | 1611 |
SCN1A | QSEYVTTILSRINLVFIVLFTGECVLKLIS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEL | 1624 |
SCN2A | QSQEMTNILYWINLVFIVLFTGECVLKLIS>L<R-YYYFTIGWNIFDFVVVILSIVGMFLAEL | 1614 |
SCN3A | QGKYMTLVLSRINLVFIVLFTGEFVLKLVS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEM | 1609 |
SCN4A | QSQLKVDILYNINMIFIIIFTGECVLKMLA>L<R-QYYFTVGWNIFDFVVVILSIVGLALSDL | 1436 |
SCN7A | QSLQMSIALYWINSIFVMLYTMECILKLIA>F<R-CFYFTIAWNIFDFMVVIFSITGLCLPMT | 1334 |
SCN8A | QSKQMENILYWINLVFVIFFTCECVLKMFA>L<R-HYYFTIGWNIFDFVVVILSIVGMFLADI | 1605 |
SCN9A | QSQHMTEVLYWINVVFIILFTGECVLKLIS>L<R-HYYFTVGWNIFDFVVVIISIVGMFLADL | 1587 |
SCN10A | QSEEKTKILGKINQFFVAVFTGECVMKMFA>L<R-QYYFTNGWNVFDFIVVVLSIASLIFSAI | 1559 |
SCN11A | QPKAMKSILDHLNWVFVVIFTLECLIKIFA>L<R-QYYFTNGWNLFDCVVVLLSIVSTMISTL | 1449 |
CACNA1A | ASVAYENALRVFNIVFTSLFSLECVLKVMA>F<GILNYFRDAWNIFDFVTVLGSITDILVTEF | 1650 |
CACNA1B | APYEYELMLKCLNIVFTSMFSMECVLKIIA>F<GVLNYFRDAWNVFDFVTVLGSITDILVTEI | 1556 |
CACNA1C | QSCLFKIAMNILNMLFTGLFTVEMILKLIA>F<KPKHYFCDAWNTFDALIVVGSIVDIAITEV | 1303 |
CACNA1D | QSKMFNDAMDILNMVFTGVFTVEMVLKVIA>F<KPKGYFSDAWNTFDSLIVIGSIIDVALSEA | 1309 |
CACNA1E | APCTYELALKYLNIAFTMVFSLECVLKVIA>F<GFLNYFRDTWNIFDFITVIGSITEIILTDS | 1562 |
CACNA1F | QTAPFNYAMDILNMVFTGLFTIEMVLKIIA>F<KPKHYFTDAWNTFDALIVVGSIVDIAVTEV | 1274 |
CACNA1G | QPQILDEALKICNYIFTVIFVLESVFKLVA>F<GFRRFFQDRWNQLDLAIVLLSIMGITLEEI | 1695 |
CACNA1H | QPKSLDEALKYCNYVFTIVFVFEAALKLVA>F<GFRRFFKDRWNQLDLAIVLLSLMGITLEEI | 1701 |
CACNA1I | QPTSLETALKYCNYMFTTVFVLEAVLKLVA>F<GLRRFFKDRWNQLDLAIVLLSVMGITLEEI | 1571 |
CACNA1S | QSEQMNHISDILNVAFTIIFTLEMILKLMA>F<KARGYFGDPWNVFDFLIVIGSIIDVILSEI | 1202 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1582P | c.4745T>C | Inherited Arrhythmia | BrS | rs199473275 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921 | ||
Inherited Arrhythmia | BrS | 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 |