Paralogue Annotation for SCN5A residue 1582

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1582
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1582

No paralogue variants have been mapped to residue 1582 for SCN5A.



SCN5AQSPEKINILAKINLLFVAIFTGECIVKLAA>L<R-HYYFTNSWNIFDFVVVILSIVGTVLSDI1611
SCN1AQSEYVTTILSRINLVFIVLFTGECVLKLIS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEL1624
SCN2AQSQEMTNILYWINLVFIVLFTGECVLKLIS>L<R-YYYFTIGWNIFDFVVVILSIVGMFLAEL1614
SCN3AQGKYMTLVLSRINLVFIVLFTGEFVLKLVS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEM1609
SCN4AQSQLKVDILYNINMIFIIIFTGECVLKMLA>L<R-QYYFTVGWNIFDFVVVILSIVGLALSDL1436
SCN7AQSLQMSIALYWINSIFVMLYTMECILKLIA>F<R-CFYFTIAWNIFDFMVVIFSITGLCLPMT1334
SCN8AQSKQMENILYWINLVFVIFFTCECVLKMFA>L<R-HYYFTIGWNIFDFVVVILSIVGMFLADI1605
SCN9AQSQHMTEVLYWINVVFIILFTGECVLKLIS>L<R-HYYFTVGWNIFDFVVVIISIVGMFLADL1587
SCN10AQSEEKTKILGKINQFFVAVFTGECVMKMFA>L<R-QYYFTNGWNVFDFIVVVLSIASLIFSAI1559
SCN11AQPKAMKSILDHLNWVFVVIFTLECLIKIFA>L<R-QYYFTNGWNLFDCVVVLLSIVSTMISTL1449
CACNA1AASVAYENALRVFNIVFTSLFSLECVLKVMA>F<GILNYFRDAWNIFDFVTVLGSITDILVTEF1650
CACNA1BAPYEYELMLKCLNIVFTSMFSMECVLKIIA>F<GVLNYFRDAWNVFDFVTVLGSITDILVTEI1556
CACNA1CQSCLFKIAMNILNMLFTGLFTVEMILKLIA>F<KPKHYFCDAWNTFDALIVVGSIVDIAITEV1303
CACNA1DQSKMFNDAMDILNMVFTGVFTVEMVLKVIA>F<KPKGYFSDAWNTFDSLIVIGSIIDVALSEA1309
CACNA1EAPCTYELALKYLNIAFTMVFSLECVLKVIA>F<GFLNYFRDTWNIFDFITVIGSITEIILTDS1562
CACNA1FQTAPFNYAMDILNMVFTGLFTIEMVLKIIA>F<KPKHYFTDAWNTFDALIVVGSIVDIAVTEV1274
CACNA1GQPQILDEALKICNYIFTVIFVLESVFKLVA>F<GFRRFFQDRWNQLDLAIVLLSIMGITLEEI1695
CACNA1HQPKSLDEALKYCNYVFTIVFVFEAALKLVA>F<GFRRFFKDRWNQLDLAIVLLSLMGITLEEI1701
CACNA1IQPTSLETALKYCNYMFTTVFVLEAVLKLVA>F<GLRRFFKDRWNQLDLAIVLLSVMGITLEEI1571
CACNA1SQSEQMNHISDILNVAFTIIFTLEMILKLMA>F<KARGYFGDPWNVFDFLIVIGSIIDVILSEI1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1582Pc.4745T>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):531-9. 19843921
Inherited 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