No paralogue variants have been mapped to residue 2110 for CACNA1C.
CACNA1C | SGGAPQSPNGALLPFVNCRDAG---QDRAG>G<EEDA----------GCV-----RARGRPSE | 2125 |
CACNA1A | ------------------------------>-<-----------------------------R | 2248 |
CACNA1B | TNSGRSSRTSYVSSLTSQSHPL---RRVPN>G<YHCTLG-LS--------------SGGR--A | 2327 |
CACNA1D | NGNVRPRANGDVGPLSHRQDYE---LQDFG>P<GYSD----------E-E-----PDPGR-DE | 2168 |
CACNA1E | TSLGRSNTIGSAPPLRHSW-------QMPN>G<HYRRRR-RG-----GPG-----PGMMCGAV | 2300 |
CACNA1F | AQGTSS------------------------>-<LYSD----------E-E-----SILSRFDE | 1964 |
CACNA1G | SPSPKKDVLSLSGLSSDPADLD-------->-<------------------------------ | 2376 |
CACNA1H | SHSVTPESRASSSGAIVPLEPPESEPPMPV>G<DPPEKRRGLYLTVPQ-CPLEKPGSPSA--T | 2342 |
CACNA1I | GLARSPSWAADRSKDPPGRAPLPMGLGPLA>P<P--------------------PQPLPG--E | 2211 |
CACNA1S | KGREAPEGMASSLGCLNL------------>-<----------------G-----SSLGSLDQ | 1860 |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | ------------------------------>-<-----------------------------D | 2003 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2110S | c.6328G>A | Putative Benign | SIFT: Polyphen: |