No paralogue variants have been mapped to residue 2113 for CACNA1C.
| CACNA1C | APQSPNGALLPFVNCRDAG---QDRAGGEE>D<A----------GCV-----RARGRPSEEEL | 2128 |
| CACNA1A | ------------------------------>-<--------------------------RSPS | 2251 |
| CACNA1B | GRSSRTSYVSSLTSQSHPL---RRVPNGYH>C<TLG-LS--------------SGGR--ARHS | 2330 |
| CACNA1D | VRPRANGDVGPLSHRQDYE---LQDFGPGY>S<D----------E-E-----PDPGR-DEEDL | 2171 |
| CACNA1E | GRSNTIGSAPPLRHSW-------QMPNGHY>R<RRR-RG-----GPG-----PGMMCGAVNNL | 2303 |
| CACNA1F | TSS-------------------------LY>S<D----------E-E-----SILSRFDEEDL | 1967 |
| CACNA1G | PKKDVLSLSGLSSDPADLD----------->-<------------------------------ | 2376 |
| CACNA1H | VTPESRASSSGAIVPLEPPESEPPMPVGDP>P<EKRRGLYLTVPQ-CPLEKPGSPSA--TPA- | 2344 |
| CACNA1I | RSPSWAADRSKDPPGRAPLPMGLGPLAPP->-<------------------PQPLPG--ELE- | 2213 |
| CACNA1S | EAPEGMASSLGCLNL--------------->-<-------------G-----SSLGSLDQHQG | 1863 |
| SCN10A | ------------------------------>-<------------------------------ | |
| SCN11A | ------------------------------>-<------------------------------ | |
| SCN1A | ------------------------------>-<------------------------------ | |
| SCN2A | ------------------------------>-<------------------------------ | |
| SCN3A | ------------------------------>-<------------------------------ | |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN5A | ------------------------------>-<--------------------------DFPP | 2006 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ------------------------------>-<------------------------------ | |
| SCN9A | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D2113N | c.6337G>A | Putative Benign | SIFT: tolerated Polyphen: benign |