No paralogue variants have been mapped to residue 701 for SCN5A.
| SCN5A | ---------------WNR-LAQRYLIWECC>P<LWMSIKQGVKLVVMDPFTDLTITMCIVLNT | 731 |
| SCN1A | ---------------WYK-FSNIFLIWDCS>P<YWLKVKHVVNLVVMDPFVDLAITICIVLNT | 782 |
| SCN2A | ---------------WYK-FANMCLIWDCC>K<PWLKVKHLVNLVVMDPFVDLAITICIVLNT | 773 |
| SCN3A | ---------------WYR-FANVFLIWDCC>D<AWLKVKHLVNLIVMDPFVDLAITICIVLNT | 774 |
| SCN4A | ---------------WYK-CAHKVLIWNCC>A<PWLKFKNIIHLIVMDPFVDLGITICIVLNT | 592 |
| SCN7A | ---------------WYK-FAKTFLIWNCS>P<CWLKLKEFVHRIIMAPFTDLFLIICIILNV | 519 |
| SCN8A | ---------------WYK-FANTFLIWECH>P<YWIKLKEIVNLIVMDPFVDLAITICIVLNT | 767 |
| SCN9A | ---------------WYR-FAHKFLIWNCS>P<YWIKFKKCIYFIVMDPFVDLAITICIVLNT | 747 |
| SCN10A | ---------------LTS-LSQKYLIWDCC>P<MWVKLKTILFGLVTDPFAELTITLCIVVNT | 679 |
| SCN11A | ---------------GEN-LASKYLVWNCC>P<QWLCVKKVLRTVMTDPFTELAITICIIINT | 591 |
| CACNA1A | ---------------SIK-SAKLENSTFFH>K<KERRMRFYIRRMVKTQAFYWTVLSLVALNT | 501 |
| CACNA1B | ---------------SLK-SGKTESSSYFR>R<KEKMFRFFIRRMVKAQSFYWVVLCVVALNT | 497 |
| CACNA1C | ---------------AHR-ISKSKFSRYWR>R<WNRFCRRKCRAAVKSNVFYWLVIFLVFLNT | 538 |
| CACNA1D | ---------------GQA-ISKSKLSRRWR>R<WNRFNRRRCRAAVKSVTFYWLVIVLVFLNT | 557 |
| CACNA1E | ---------------SIK-SAKVDGVSYFR>H<KERLLRISIRHMVKSQVFYWIVLSLVALNT | 490 |
| CACNA1F | ---------------LNK-IMKTRVCRRLR>R<ANRVLRARCRRAVKSNACYWAVLLLVFLNT | 543 |
| CACNA1G | ------------------SLGPDAEPSSVL>A<FWRLICDTFRKIVDSKYFGRGIMIAILVNT | 757 |
| CACNA1H | TPGPG---PGSPQRRAQQRAAPGE-PGWMG>R<LWVTFSGKLRRIVDSKYFSRGIMMAILVNT | 807 |
| CACNA1I | EDGASSELG--KEEEEEE-QADGA-VWLCG>D<VWRETRAKLRGIVDSKYFNRGIMMAILVNT | 654 |
| CACNA1S | ---------------LNK-I--IQFIRHWR>Q<WNRIFRWKCHDIVKSKVFYWLVILIVALNT | 446 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P701L | c.2102C>T | Inherited Arrhythmia | LQTS,BrS | rs199473147 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| 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 | |||
| Inherited Arrhythmia | LQTS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||