No paralogue variants have been mapped to residue 495 for CACNA1C.
CACNA1C | -------ARL-------------------A>H<R-ISKSKFSRYWRRWNRFCRRKCRAAVKSN | 524 |
CACNA1A | --SP--FARA-------------------S>I<K-SAKLENSTFFHKKERRMRFYIRRMVKTQ | 487 |
CACNA1B | --SP--FARA-------------------S>L<K-SGKTESSSYFRRKEKMFRFFIRRMVKAQ | 483 |
CACNA1D | --GPSGCRRW-------------------G>Q<A-ISKSKLSRRWRRWNRFNRRRCRAAVKSV | 543 |
CACNA1E | --TP--LARA-------------------S>I<K-SAKVDGVSYFRHKERLLRISIRHMVKSQ | 476 |
CACNA1F | --ALASCTRC-------------------L>N<K-IMKTRVCRRLRRANRVLRARCRRAVKSN | 529 |
CACNA1G | LRDPH-SRRQ---R---------------->-<-SLGPDAEPSSVLAFWRLICDTFRKIVDSK | 743 |
CACNA1H | RWDP--TRPPRATDTPGPG---PGSPQRRA>Q<QRAAPGE-PGWMGRLWVTFSGKLRRIVDSK | 793 |
CACNA1I | -DGD--GARS---SEDGASSELG--KEEEE>E<E-QADGA-VWLCGDVWRETRAKLRGIVDSK | 640 |
CACNA1S | -----------------------------L>N<K-I--IQFIRHWRQWNRIFRWKCHDIVKSK | 432 |
SCN10A | --QK--CPPC-------------------L>T<S-LSQKYLIWDCCPMWVKLKTILFGLVTDP | 665 |
SCN11A | --EP--CLPC-------------------G>E<N-LASKYLVWNCCPQWLCVKKVLRTVMTDP | 577 |
SCN1A | --QK--CPPC-------------------W>Y<K-FSNIFLIWDCSPYWLKVKHVVNLVVMDP | 768 |
SCN2A | --QK--CPPC-------------------W>Y<K-FANMCLIWDCCKPWLKVKHLVNLVVMDP | 759 |
SCN3A | --QK--CPPC-------------------W>Y<R-FANVFLIWDCCDAWLKVKHLVNLIVMDP | 760 |
SCN4A | --QK--CPPW-------------------W>Y<K-CAHKVLIWNCCAPWLKFKNIIHLIVMDP | 578 |
SCN5A | --HK--CPPC-------------------W>N<R-LAQRYLIWECCPLWMSIKQGVKLVVMDP | 717 |
SCN7A | --KI--CPLY-------------------W>Y<K-FAKTFLIWNCSPCWLKLKEFVHRIIMAP | 505 |
SCN8A | --RK--CPPC-------------------W>Y<K-FANTFLIWECHPYWIKLKEIVNLIVMDP | 753 |
SCN9A | --QK--CPPW-------------------W>Y<R-FAHKFLIWNCSPYWIKFKKCIYFIVMDP | 733 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H495Q | c.1485C>A | Putative Benign | rs373335068 | SIFT: tolerated Polyphen: benign |