No paralogue variants have been mapped to residue 1597 for SCN5A.
SCN5A | VAIFTGECIVKLAALR-HYYFTNSWNIFDF>V<VVILSIVGTVLSDIIQ-------------- | 1613 |
SCN1A | IVLFTGECVLKLISLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAELIE-------------- | 1626 |
SCN2A | IVLFTGECVLKLISLR-YYYFTIGWNIFDF>V<VVILSIVGMFLAELIE-------------- | 1616 |
SCN3A | IVLFTGEFVLKLVSLR-HYYFTIGWNIFDF>V<VVILSIVGMFLAEMIE-------------- | 1611 |
SCN4A | IIIFTGECVLKMLALR-QYYFTVGWNIFDF>V<VVILSIVGLALSDLIQ-------------- | 1438 |
SCN7A | VMLYTMECILKLIAFR-CFYFTIAWNIFDF>M<VVIFSITGLCLPMTVG-------------- | 1336 |
SCN8A | VIFFTCECVLKMFALR-HYYFTIGWNIFDF>V<VVILSIVGMFLADIIE-------------- | 1607 |
SCN9A | IILFTGECVLKLISLR-HYYFTVGWNIFDF>V<VVIISIVGMFLADLIE-------------- | 1589 |
SCN10A | VAVFTGECVMKMFALR-QYYFTNGWNVFDF>I<VVVLSIASLIFSAILKS------------- | 1562 |
SCN11A | VVIFTLECLIKIFALR-QYYFTNGWNLFDC>V<VVLLSIVSTMISTLENQ------------- | 1452 |
CACNA1A | TSLFSLECVLKVMAFGILNYFRDAWNIFDF>V<TVLGSITDILVTEFGNN------------- | 1653 |
CACNA1B | TSMFSMECVLKIIAFGVLNYFRDAWNVFDF>V<TVLGSITDILVTEIAET------------- | 1559 |
CACNA1C | TGLFTVEMILKLIAFKPKHYFCDAWNTFDA>L<IVVGSIVDIAITEVNPAE----HTQ----C | 1311 |
CACNA1D | TGVFTVEMVLKVIAFKPKGYFSDAWNTFDS>L<IVIGSIIDVALSEADPTE----SENVPVPT | 1321 |
CACNA1E | TMVFSLECVLKVIAFGFLNYFRDTWNIFDF>I<TVIGSITEIILTDSKLV------------- | 1565 |
CACNA1F | TGLFTIEMVLKIIAFKPKHYFTDAWNTFDA>L<IVVGSIVDIAVTEVNNGG----HLG----E | 1282 |
CACNA1G | TVIFVLESVFKLVAFGFRRFFQDRWNQLDL>A<IVLLSIMGITLEEIEVN------------- | 1698 |
CACNA1H | TIVFVFEAALKLVAFGFRRFFKDRWNQLDL>A<IVLLSLMGITLEEIEMS------------- | 1704 |
CACNA1I | TTVFVLEAVLKLVAFGLRRFFKDRWNQLDL>A<IVLLSVMGITLEEIEIN------------- | 1574 |
CACNA1S | TIIFTLEMILKLMAFKARGYFGDPWNVFDF>L<IVIGSIIDVILSEIDTFLASSGGLYCLGGG | 1218 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1597M | c.4789G>A | Inherited Arrhythmia | LQTS | rs199473279 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 | ||
Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 |