No paralogue variants have been mapped to residue 507 for CACNA1C.
CACNA1C | ----------------AHR-ISKSKFSRYW>R<RWNRFCRRKCRAAVKSNVFYWLVIFLVFLN | 537 |
CACNA1A | ----------------SIK-SAKLENSTFF>H<KKERRMRFYIRRMVKTQAFYWTVLSLVALN | 500 |
CACNA1B | ----------------SLK-SGKTESSSYF>R<RKEKMFRFFIRRMVKAQSFYWVVLCVVALN | 496 |
CACNA1D | ----------------GQA-ISKSKLSRRW>R<RWNRFNRRRCRAAVKSVTFYWLVIVLVFLN | 556 |
CACNA1E | ----------------SIK-SAKVDGVSYF>R<HKERLLRISIRHMVKSQVFYWIVLSLVALN | 489 |
CACNA1F | ----------------LNK-IMKTRVCRRL>R<RANRVLRARCRRAVKSNACYWAVLLLVFLN | 542 |
CACNA1G | R------------------SLGPDAEPSSV>L<AFWRLICDTFRKIVDSKYFGRGIMIAILVN | 756 |
CACNA1H | DTPGPG---PGSPQRRAQQRAAPGE-PGWM>G<RLWVTFSGKLRRIVDSKYFSRGIMMAILVN | 806 |
CACNA1I | SEDGASSELG--KEEEEEE-QADGA-VWLC>G<DVWRETRAKLRGIVDSKYFNRGIMMAILVN | 653 |
CACNA1S | ----------------LNK-I--IQFIRHW>R<QWNRIFRWKCHDIVKSKVFYWLVILIVALN | 445 |
SCN10A | ----------------LTS-LSQKYLIWDC>C<PMWVKLKTILFGLVTDPFAELTITLCIVVN | 678 |
SCN11A | ----------------GEN-LASKYLVWNC>C<PQWLCVKKVLRTVMTDPFTELAITICIIIN | 590 |
SCN1A | ----------------WYK-FSNIFLIWDC>S<PYWLKVKHVVNLVVMDPFVDLAITICIVLN | 781 |
SCN2A | ----------------WYK-FANMCLIWDC>C<KPWLKVKHLVNLVVMDPFVDLAITICIVLN | 772 |
SCN3A | ----------------WYR-FANVFLIWDC>C<DAWLKVKHLVNLIVMDPFVDLAITICIVLN | 773 |
SCN4A | ----------------WYK-CAHKVLIWNC>C<APWLKFKNIIHLIVMDPFVDLGITICIVLN | 591 |
SCN5A | ----------------WNR-LAQRYLIWEC>C<PLWMSIKQGVKLVVMDPFTDLTITMCIVLN | 730 |
SCN7A | ----------------WYK-FAKTFLIWNC>S<PCWLKLKEFVHRIIMAPFTDLFLIICIILN | 518 |
SCN8A | ----------------WYK-FANTFLIWEC>H<PYWIKLKEIVNLIVMDPFVDLAITICIVLN | 766 |
SCN9A | ----------------WYR-FAHKFLIWNC>S<PYWIKFKKCIYFIVMDPFVDLAITICIVLN | 746 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R507H | c.1520G>A | Putative Benign | SIFT: Polyphen: |