No paralogue variants have been mapped to residue 1943 for CACNA1C.
CACNA1C | HQALAVAGLSP--LL------------QRS>H<SPASFPRPFATPPATPGSRGWPPQPVPTLR | 1973 |
CACNA1A | --HRQHH--------------HHHHHHHHP>P<PPDKDRYAQ-ERPDHG------RARARDQR | 2245 |
CACNA1B | HPTSPTAGQEPGPHPQGSGSVNGSPLLSTS>G<ASTPGRGGRRQLPQTP------LTPRPSIT | 2203 |
CACNA1D | QQIMAVAGLDS--SK------------AQK>Y<SPSHSTRSWATPPATPPYRDWTPCYTPLIQ | 2022 |
CACNA1E | QSRSPSEGRSQTPNRQGTGSLSESSIPSVS>D<TSTP-RRSRRQLPPVP------PKPRPLLS | 2171 |
CACNA1F | -------------HR------------GRN>S<GPNRAQGSWATPPQRG-----RLLYAPLLL | 1854 |
CACNA1G | ----L------------------------->-<-------SWISGDLLPPGGQEEPPSPRDLK | 2244 |
CACNA1H | ------------------------------>-<--------------------------RDLR | 2133 |
CACNA1I | ------------------------------>-<--------------------------PAAR | 2064 |
CACNA1S | ---LLTQRAMP--RG------------QAP>P<APCQCP-----------------------R | 1745 |
SCN10A | ------------------------------>-<-----------------------S---S-- | 1938 |
SCN11A | ------------------------------>-<---------------------------G-- | 1786 |
SCN1A | ------------------------------>-<-----------------------Q---E-- | 2000 |
SCN2A | ------------------------------>-<-----------------------K---D-- | 1989 |
SCN3A | ------------------------------>-<-----------------------K---D-- | 1984 |
SCN4A | ------------------------------>-<-----------------------P---A-- | 1820 |
SCN5A | ------------------------------>-<-----------------------S---D-- | 1994 |
SCN7A | ------------------------------>-<---------------------------S-- | 1676 |
SCN8A | ------------------------------>-<-----------------------E---G-- | 1964 |
SCN9A | ------------------------------>-<-----------------------Q---D-- | 1961 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1943Y | c.5827C>T | Putative Benign | rs200666365 | SIFT: tolerated Polyphen: possibly damaging |