No paralogue variants have been mapped to residue 691 for SCN5A.
| SCN5A | --CPPC-------------------WNR-L>A<QRYLIWECCPLWMSIKQGVKLVVMDPFTDL | 721 |
| SCN1A | --CPPC-------------------WYK-F>S<NIFLIWDCSPYWLKVKHVVNLVVMDPFVDL | 772 |
| SCN2A | --CPPC-------------------WYK-F>A<NMCLIWDCCKPWLKVKHLVNLVVMDPFVDL | 763 |
| SCN3A | --CPPC-------------------WYR-F>A<NVFLIWDCCDAWLKVKHLVNLIVMDPFVDL | 764 |
| SCN4A | --CPPW-------------------WYK-C>A<HKVLIWNCCAPWLKFKNIIHLIVMDPFVDL | 582 |
| SCN7A | --CPLY-------------------WYK-F>A<KTFLIWNCSPCWLKLKEFVHRIIMAPFTDL | 509 |
| SCN8A | --CPPC-------------------WYK-F>A<NTFLIWECHPYWIKLKEIVNLIVMDPFVDL | 757 |
| SCN9A | --CPPW-------------------WYR-F>A<HKFLIWNCSPYWIKFKKCIYFIVMDPFVDL | 737 |
| SCN10A | --CPPC-------------------LTS-L>S<QKYLIWDCCPMWVKLKTILFGLVTDPFAEL | 669 |
| SCN11A | --CLPC-------------------GEN-L>A<SKYLVWNCCPQWLCVKKVLRTVMTDPFTEL | 581 |
| CACNA1A | --FARA-------------------SIK-S>A<KLENSTFFHKKERRMRFYIRRMVKTQAFYW | 491 |
| CACNA1B | --FARA-------------------SLK-S>G<KTESSSYFRRKEKMFRFFIRRMVKAQSFYW | 487 |
| CACNA1C | ---ARL-------------------AHR-I>S<KSKFSRYWRRWNRFCRRKCRAAVKSNVFYW | 528 |
| CACNA1D | SGCRRW-------------------GQA-I>S<KSKLSRRWRRWNRFNRRRCRAAVKSVTFYW | 547 |
| CACNA1E | --LARA-------------------SIK-S>A<KVDGVSYFRHKERLLRISIRHMVKSQVFYW | 480 |
| CACNA1F | ASCTRC-------------------LNK-I>M<KTRVCRRLRRANRVLRARCRRAVKSNACYW | 533 |
| CACNA1G | H-SRRQ---R------------------SL>G<PDAEPSSVLAFWRLICDTFRKIVDSKYFGR | 747 |
| CACNA1H | --TRPPRATDTPGPG---PGSPQRRAQQRA>A<PGE-PGWMGRLWVTFSGKLRRIVDSKYFSR | 797 |
| CACNA1I | --GARS---SEDGASSELG--KEEEEEE-Q>A<DGA-VWLCGDVWRETRAKLRGIVDSKYFNR | 644 |
| CACNA1S | -------------------------LNK-I>-<-IQFIRHWRQWNRIFRWKCHDIVKSKVFYW | 436 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A691T | c.2071G>A | Inherited Arrhythmia | LQTS | rs199473146 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| p.A691S | c.2071G>T | Putative Benign | SIFT: Polyphen: | ||