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 |