No paralogue variants have been mapped to residue 714 for SCN5A.
SCN5A | --WNR-LAQRYLIWECCPLWMSIKQGVKLV>V<MDPFTDLTITMCIVLNTLFMALEHYNMTSE | 744 |
SCN1A | --WYK-FSNIFLIWDCSPYWLKVKHVVNLV>V<MDPFVDLAITICIVLNTLFMAMEHYPMTDH | 795 |
SCN2A | --WYK-FANMCLIWDCCKPWLKVKHLVNLV>V<MDPFVDLAITICIVLNTLFMAMEHYPMTEQ | 786 |
SCN3A | --WYR-FANVFLIWDCCDAWLKVKHLVNLI>V<MDPFVDLAITICIVLNTLFMAMEHYPMTEQ | 787 |
SCN4A | --WYK-CAHKVLIWNCCAPWLKFKNIIHLI>V<MDPFVDLGITICIVLNTLFMAMEHYPMTEH | 605 |
SCN7A | --WYK-FAKTFLIWNCSPCWLKLKEFVHRI>I<MAPFTDLFLIICIILNVCFLTLEHYPMSKQ | 532 |
SCN8A | --WYK-FANTFLIWECHPYWIKLKEIVNLI>V<MDPFVDLAITICIVLNTLFMAMEHHPMTPQ | 780 |
SCN9A | --WYR-FAHKFLIWNCSPYWIKFKKCIYFI>V<MDPFVDLAITICIVLNTLFMAMEHHPMTEE | 760 |
SCN10A | --LTS-LSQKYLIWDCCPMWVKLKTILFGL>V<TDPFAELTITLCIVVNTIFMAMEHHGMSPT | 692 |
SCN11A | --GEN-LASKYLVWNCCPQWLCVKKVLRTV>M<TDPFTELAITICIIINTVFLAMEHHKMEAS | 604 |
CACNA1A | --SIK-SAKLENSTFFHKKERRMRFYIRRM>V<KTQAFYWTVLSLVALNTLCVAIVHYNQPEW | 514 |
CACNA1B | --SLK-SGKTESSSYFRRKEKMFRFFIRRM>V<KAQSFYWVVLCVVALNTLCVAMVHYNQPRR | 510 |
CACNA1C | --AHR-ISKSKFSRYWRRWNRFCRRKCRAA>V<KSNVFYWLVIFLVFLNTLTIASEHYNQPNW | 551 |
CACNA1D | --GQA-ISKSKLSRRWRRWNRFNRRRCRAA>V<KSVTFYWLVIVLVFLNTLTISSEHYNQPDW | 570 |
CACNA1E | --SIK-SAKVDGVSYFRHKERLLRISIRHM>V<KSQVFYWIVLSLVALNTACVAIVHHNQPQW | 503 |
CACNA1F | --LNK-IMKTRVCRRLRRANRVLRARCRRA>V<KSNACYWAVLLLVFLNTLTIASEHHGQPVW | 556 |
CACNA1G | -----SLGPDAEPSSVLAFWRLICDTFRKI>V<DSKYFGRGIMIAILVNTLSMGIEYHEQPEE | 770 |
CACNA1H | RRAQQRAAPGE-PGWMGRLWVTFSGKLRRI>V<DSKYFSRGIMMAILVNTLSMGVEYHEQPEE | 820 |
CACNA1I | EEEEE-QADGA-VWLCGDVWRETRAKLRGI>V<DSKYFNRGIMMAILVNTVSMGIEHHEQPEE | 667 |
CACNA1S | --LNK-I--IQFIRHWRQWNRIFRWKCHDI>V<KSKVFYWLVILIVALNTLSIASEHHNQPLW | 459 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V714A | c.2141T>C | Putative Benign | SIFT: Polyphen: |