No paralogue variants have been mapped to residue 1867 for CACNA1C.
CACNA1C | HDTEACSEPSLLSTE------MLSYQDDEN>R<QL--------TLPEEDKRDIRQSPKRGFLR | 1889 |
CACNA1A | HQ--R---RRDRSHRASERSLGRYTDV--->D<TGL---------------GTDLSMTTQSGD | 2190 |
CACNA1B | HHHHRCHRRRDRKQRSLEKGPSLSADM--->D<GAP---------------SSAVGPGLPPGE | 2094 |
CACNA1D | YEDDSSPTWSRQNYGYYSRYPGRNIDSERP>R<GYHHPQGFLEDDDSPVCYDSRRSPRRRLLP | 1932 |
CACNA1E | TY--K---SRRRSYHSSLRLSAHRLNS--->D<SGH---------------KSDT-------- | 2075 |
CACNA1F | YLDEQAGTPP-CSVL--------------->-<LP--------PHRAQRYMDGHLVPRRRLLP | 1793 |
CACNA1G | SS--T---Q--------------------->A<QQ--------HSR------SHSKISKHMTP | 2193 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------RRALGP | 2048 |
CACNA1S | YGNSNHSNSHVFSSVHYEREFPEETET--->-<--------------------PATRGRALGQ | 1706 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1867W | c.5599C>T | Putative Benign | rs369421219 | SIFT: deleterious Polyphen: probably damaging | |
p.R1867Q | c.5600G>A | Putative Benign | SIFT: tolerated Polyphen: benign |