No paralogue variants have been mapped to residue 1927 for CACNA1C.
CACNA1C | ---Q----------------KTVLPLHLVH>H<QALAVAGLSP--LL------------QRSH | 1943 |
CACNA1A | --------------------K--------->-<-HRQHH--------------HHHHHHHHPP | 2222 |
CACNA1B | ---EKQRFYSCDRFGGREPPKPK--PSLSS>H<PTSPTAGQEPGPHPQGSGSVNGSPLLSTSG | 2179 |
CACNA1D | IFPH----------------RTALPLHLMQ>Q<QIMAVAGLDS--SK------------AQKY | 1992 |
CACNA1E | ---SRCN--SEER-GTQADW-ES--PE-RR>Q<SRSPSEGRSQTPNRQGTGSLSESSIPSVSD | 2148 |
CACNA1F | TY---------------------------->-<------------HR------------GRNS | 1829 |
CACNA1G | ------------------------------>-<---L-------------------------- | 2221 |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<--LLTQRAMP--RG------------QAPP | 1738 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1927Y | c.5779C>T | Putative Benign | SIFT: Polyphen: |