No paralogue variants have been mapped to residue 2022 for CACNA1C.
CACNA1C | CGSWAETTPGGGGSSAARRVRPVSLMVPSQ>A<---GAPGRQFHGSASSLVEA-----VL--I | 2042 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | --------------------GAQTSLPAFS>P<---GRLSRGLSEHNA-----LLQRDPL--S | 2246 |
CACNA1D | RSSWYTDEP----DISYRTFTPASLTVPSS>F<---RNKNSDKQRSADSLVEA-----VL--I | 2087 |
CACNA1E | --------------------PPADGSEEGS>P<---LT-SQALESNNACLTESSNSPHPQ--Q | 2218 |
CACNA1F | -------------SGPLRTFT--CLHVPGT>H<---SDPSHGKRGSADSLVEA-----VL--I | 1904 |
CACNA1G | DEQRRHSIAVSCLDSGSQPHLGTDPSNLGG>-<--QPLGGPGSRPKKKLSPPS-----IT--I | 2313 |
CACNA1H | DEQWRPSAELGSGEP-------GEAKAWGP>-<--EAEPALGARRKKKMSPPC-----I--SV | 2194 |
CACNA1I | RAHQRSHSSGGSTSPGCTHHDSMDPSDEEG>R<GGAGGGGAGSEHSETLSSLS-----LTSLF | 2136 |
CACNA1S | E-----ETP----------------HSRST>R<---ENTSRCSAPATALLIQK-----AL--V | 1793 |
SCN10A | ------------------------------>-<---------------A-------------- | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<---------------A-------------- | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2022P | c.6064G>C | Putative Benign | SIFT: Polyphen: |