No paralogue variants have been mapped to residue 1940 for CACNA1C.
CACNA1C | LVHHQALAVAGLSP--LL------------>Q<RSHSPASFPRPFATPPATPGSRGWPPQPVP | 1970 |
CACNA1A | -----HRQHH--------------HHHHHH>H<HPPPPDKDRYAQ-ERPDHG------RARAR | 2242 |
CACNA1B | LSSHPTSPTAGQEPGPHPQGSGSVNGSPLL>S<TSGASTPGRGGRRQLPQTP------LTPRP | 2200 |
CACNA1D | LMQQQIMAVAGLDS--SK------------>A<QKYSPSHSTRSWATPPATPPYRDWTPCYTP | 2019 |
CACNA1E | -RRQSRSPSEGRSQTPNRQGTGSLSESSIP>S<VSDTSTP-RRSRRQLPPVP------PKPRP | 2168 |
CACNA1F | ----------------HR------------>G<RNSGPNRAQGSWATPPQRG-----RLLYAP | 1851 |
CACNA1G | -------L---------------------->-<----------SWISGDLLPPGGQEEPPSPR | 2241 |
CACNA1H | ------------------------------>-<-----------------------------R | 2130 |
CACNA1I | ------------------------------>-<-----------------------------P | 2061 |
CACNA1S | ------LLTQRAMP--RG------------>Q<APPAPCQCP--------------------- | 1744 |
SCN10A | ------------------------------>-<--------------------------S--- | 1937 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<--------------------------Q--- | 1999 |
SCN2A | ------------------------------>-<--------------------------K--- | 1988 |
SCN3A | ------------------------------>-<--------------------------K--- | 1983 |
SCN4A | ------------------------------>-<--------------------------P--- | 1819 |
SCN5A | ------------------------------>-<--------------------------S--- | 1993 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<--------------------------E--- | 1963 |
SCN9A | ------------------------------>-<--------------------------Q--- | 1960 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1940H | c.5820G>C | Putative Benign | SIFT: Polyphen: |