No paralogue variants have been mapped to residue 520 for CACNA1C.
CACNA1C | ---AHR-ISKSKFSRYWRRWNRFCRRKCRA>A<VKSNVFYWLVIFLVFLNTLTIASEHYNQPN | 550 |
CACNA1A | ---SIK-SAKLENSTFFHKKERRMRFYIRR>M<VKTQAFYWTVLSLVALNTLCVAIVHYNQPE | 513 |
CACNA1B | ---SLK-SGKTESSSYFRRKEKMFRFFIRR>M<VKAQSFYWVVLCVVALNTLCVAMVHYNQPR | 509 |
CACNA1D | ---GQA-ISKSKLSRRWRRWNRFNRRRCRA>A<VKSVTFYWLVIVLVFLNTLTISSEHYNQPD | 569 |
CACNA1E | ---SIK-SAKVDGVSYFRHKERLLRISIRH>M<VKSQVFYWIVLSLVALNTACVAIVHHNQPQ | 502 |
CACNA1F | ---LNK-IMKTRVCRRLRRANRVLRARCRR>A<VKSNACYWAVLLLVFLNTLTIASEHHGQPV | 555 |
CACNA1G | ------SLGPDAEPSSVLAFWRLICDTFRK>I<VDSKYFGRGIMIAILVNTLSMGIEYHEQPE | 769 |
CACNA1H | QRRAQQRAAPGE-PGWMGRLWVTFSGKLRR>I<VDSKYFSRGIMMAILVNTLSMGVEYHEQPE | 819 |
CACNA1I | EEEEEE-QADGA-VWLCGDVWRETRAKLRG>I<VDSKYFNRGIMMAILVNTVSMGIEHHEQPE | 666 |
CACNA1S | ---LNK-I--IQFIRHWRQWNRIFRWKCHD>I<VKSKVFYWLVILIVALNTLSIASEHHNQPL | 458 |
SCN10A | ---LTS-LSQKYLIWDCCPMWVKLKTILFG>L<VTDPFAELTITLCIVVNTIFMAMEHHGMSP | 691 |
SCN11A | ---GEN-LASKYLVWNCCPQWLCVKKVLRT>V<MTDPFTELAITICIIINTVFLAMEHHKMEA | 603 |
SCN1A | ---WYK-FSNIFLIWDCSPYWLKVKHVVNL>V<VMDPFVDLAITICIVLNTLFMAMEHYPMTD | 794 |
SCN2A | ---WYK-FANMCLIWDCCKPWLKVKHLVNL>V<VMDPFVDLAITICIVLNTLFMAMEHYPMTE | 785 |
SCN3A | ---WYR-FANVFLIWDCCDAWLKVKHLVNL>I<VMDPFVDLAITICIVLNTLFMAMEHYPMTE | 786 |
SCN4A | ---WYK-CAHKVLIWNCCAPWLKFKNIIHL>I<VMDPFVDLGITICIVLNTLFMAMEHYPMTE | 604 |
SCN5A | ---WNR-LAQRYLIWECCPLWMSIKQGVKL>V<VMDPFTDLTITMCIVLNTLFMALEHYNMTS | 743 |
SCN7A | ---WYK-FAKTFLIWNCSPCWLKLKEFVHR>I<IMAPFTDLFLIICIILNVCFLTLEHYPMSK | 531 |
SCN8A | ---WYK-FANTFLIWECHPYWIKLKEIVNL>I<VMDPFVDLAITICIVLNTLFMAMEHHPMTP | 779 |
SCN9A | ---WYR-FAHKFLIWNCSPYWIKFKKCIYF>I<VMDPFVDLAITICIVLNTLFMAMEHHPMTE | 759 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A520T | c.1558G>A | Putative Benign | SIFT: Polyphen: |