No paralogue variants have been mapped to residue 718 for SCN5A.
SCN5A | R-LAQRYLIWECCPLWMSIKQGVKLVVMDP>F<TDLTITMCIVLNTLFMALEHYNMTSEFEEM | 748 |
SCN1A | K-FSNIFLIWDCSPYWLKVKHVVNLVVMDP>F<VDLAITICIVLNTLFMAMEHYPMTDHFNNV | 799 |
SCN2A | K-FANMCLIWDCCKPWLKVKHLVNLVVMDP>F<VDLAITICIVLNTLFMAMEHYPMTEQFSSV | 790 |
SCN3A | R-FANVFLIWDCCDAWLKVKHLVNLIVMDP>F<VDLAITICIVLNTLFMAMEHYPMTEQFSSV | 791 |
SCN4A | K-CAHKVLIWNCCAPWLKFKNIIHLIVMDP>F<VDLGITICIVLNTLFMAMEHYPMTEHFDNV | 609 |
SCN7A | K-FAKTFLIWNCSPCWLKLKEFVHRIIMAP>F<TDLFLIICIILNVCFLTLEHYPMSKQTNTL | 536 |
SCN8A | K-FANTFLIWECHPYWIKLKEIVNLIVMDP>F<VDLAITICIVLNTLFMAMEHHPMTPQFEHV | 784 |
SCN9A | R-FAHKFLIWNCSPYWIKFKKCIYFIVMDP>F<VDLAITICIVLNTLFMAMEHHPMTEEFKNV | 764 |
SCN10A | S-LSQKYLIWDCCPMWVKLKTILFGLVTDP>F<AELTITLCIVVNTIFMAMEHHGMSPTFEAM | 696 |
SCN11A | N-LASKYLVWNCCPQWLCVKKVLRTVMTDP>F<TELAITICIIINTVFLAMEHHKMEASFEKM | 608 |
CACNA1A | K-SAKLENSTFFHKKERRMRFYIRRMVKTQ>A<FYWTVLSLVALNTLCVAIVHYNQPEWLSDF | 518 |
CACNA1B | K-SGKTESSSYFRRKEKMFRFFIRRMVKAQ>S<FYWVVLCVVALNTLCVAMVHYNQPRRLTTT | 514 |
CACNA1C | R-ISKSKFSRYWRRWNRFCRRKCRAAVKSN>V<FYWLVIFLVFLNTLTIASEHYNQPNWLTEV | 555 |
CACNA1D | A-ISKSKLSRRWRRWNRFNRRRCRAAVKSV>T<FYWLVIVLVFLNTLTISSEHYNQPDWLTQI | 574 |
CACNA1E | K-SAKVDGVSYFRHKERLLRISIRHMVKSQ>V<FYWIVLSLVALNTACVAIVHHNQPQWLTHL | 507 |
CACNA1F | K-IMKTRVCRRLRRANRVLRARCRRAVKSN>A<CYWAVLLLVFLNTLTIASEHHGQPVWLTQI | 560 |
CACNA1G | -SLGPDAEPSSVLAFWRLICDTFRKIVDSK>Y<FGRGIMIAILVNTLSMGIEYHEQPEELTNA | 774 |
CACNA1H | QRAAPGE-PGWMGRLWVTFSGKLRRIVDSK>Y<FSRGIMMAILVNTLSMGVEYHEQPEELTNA | 824 |
CACNA1I | E-QADGA-VWLCGDVWRETRAKLRGIVDSK>Y<FNRGIMMAILVNTVSMGIEHHEQPEELTNI | 671 |
CACNA1S | K-I--IQFIRHWRQWNRIFRWKCHDIVKSK>V<FYWLVILIVALNTLSIASEHHNQPLWLTRL | 463 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F718L | c.2154T>G | Putative Benign | SIFT: Polyphen: |