No paralogue variants have been mapped to residue 519 for CACNA1C.
CACNA1C | ----AHR-ISKSKFSRYWRRWNRFCRRKCR>A<AVKSNVFYWLVIFLVFLNTLTIASEHYNQP | 549 |
CACNA1A | ----SIK-SAKLENSTFFHKKERRMRFYIR>R<MVKTQAFYWTVLSLVALNTLCVAIVHYNQP | 512 |
CACNA1B | ----SLK-SGKTESSSYFRRKEKMFRFFIR>R<MVKAQSFYWVVLCVVALNTLCVAMVHYNQP | 508 |
CACNA1D | ----GQA-ISKSKLSRRWRRWNRFNRRRCR>A<AVKSVTFYWLVIVLVFLNTLTISSEHYNQP | 568 |
CACNA1E | ----SIK-SAKVDGVSYFRHKERLLRISIR>H<MVKSQVFYWIVLSLVALNTACVAIVHHNQP | 501 |
CACNA1F | ----LNK-IMKTRVCRRLRRANRVLRARCR>R<AVKSNACYWAVLLLVFLNTLTIASEHHGQP | 554 |
CACNA1G | -------SLGPDAEPSSVLAFWRLICDTFR>K<IVDSKYFGRGIMIAILVNTLSMGIEYHEQP | 768 |
CACNA1H | PQRRAQQRAAPGE-PGWMGRLWVTFSGKLR>R<IVDSKYFSRGIMMAILVNTLSMGVEYHEQP | 818 |
CACNA1I | KEEEEEE-QADGA-VWLCGDVWRETRAKLR>G<IVDSKYFNRGIMMAILVNTVSMGIEHHEQP | 665 |
CACNA1S | ----LNK-I--IQFIRHWRQWNRIFRWKCH>D<IVKSKVFYWLVILIVALNTLSIASEHHNQP | 457 |
SCN10A | ----LTS-LSQKYLIWDCCPMWVKLKTILF>G<LVTDPFAELTITLCIVVNTIFMAMEHHGMS | 690 |
SCN11A | ----GEN-LASKYLVWNCCPQWLCVKKVLR>T<VMTDPFTELAITICIIINTVFLAMEHHKME | 602 |
SCN1A | ----WYK-FSNIFLIWDCSPYWLKVKHVVN>L<VVMDPFVDLAITICIVLNTLFMAMEHYPMT | 793 |
SCN2A | ----WYK-FANMCLIWDCCKPWLKVKHLVN>L<VVMDPFVDLAITICIVLNTLFMAMEHYPMT | 784 |
SCN3A | ----WYR-FANVFLIWDCCDAWLKVKHLVN>L<IVMDPFVDLAITICIVLNTLFMAMEHYPMT | 785 |
SCN4A | ----WYK-CAHKVLIWNCCAPWLKFKNIIH>L<IVMDPFVDLGITICIVLNTLFMAMEHYPMT | 603 |
SCN5A | ----WNR-LAQRYLIWECCPLWMSIKQGVK>L<VVMDPFTDLTITMCIVLNTLFMALEHYNMT | 742 |
SCN7A | ----WYK-FAKTFLIWNCSPCWLKLKEFVH>R<IIMAPFTDLFLIICIILNVCFLTLEHYPMS | 530 |
SCN8A | ----WYK-FANTFLIWECHPYWIKLKEIVN>L<IVMDPFVDLAITICIVLNTLFMAMEHHPMT | 778 |
SCN9A | ----WYR-FAHKFLIWNCSPYWIKFKKCIY>F<IVMDPFVDLAITICIVLNTLFMAMEHHPMT | 758 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A519T | c.1555G>A | Putative Benign | rs371702432 | SIFT: tolerated Polyphen: possibly damaging |