No paralogue variants have been mapped to residue 1840 for CACNA1C.
CACNA1C | QAAMAGQEET------------SQDETYEV>K<MNHDTEACSEPSLLSTE------MLSYQDD | 1864 |
CACNA1A | RLDDYSLERV---------------PPEEN>Q<RHHQ--R---RRDRSHRASERSLGRYTDV- | 2174 |
CACNA1B | HLCSTTPDRP---------------PPSQA>S<SHHHHHRCHRRRDRKQRSLEKGPSLSADM- | 2078 |
CACNA1D | QLPTICREDPEIHGYFRDPHCLGEQEYFSS>E<ECYEDDSSPTWSRQNYGYYSRYPGRNIDSE | 1899 |
CACNA1E | ---SSWLEEF---------------SMERS>S<ENTY--K---SRRRSYHSSLRLSAHRLNS- | 2067 |
CACNA1F | PKGTKGQNKQ------------DEDEEVPD>R<LSYLDEQAGTPP-CSVL------------- | 1771 |
CACNA1G | LLAEVSGPSP------------PLARAYSF>W<GQSS--T---Q------------------- | 2176 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | -----------------------------A>N<VAYGNSNHSNSHVFSSVHYEREFPEETET- | 1696 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1840E | c.5518A>G | Putative Benign | rs199601269 | SIFT: tolerated Polyphen: benign |