No paralogue variants have been mapped to residue 2009 for CACNA1C.
| CACNA1C | SSEKLNSSFPSIHCGSWAETTPGGGGSSAA>R<RVRPVSLMVPSQA---GAPGRQFHGSASSL | 2036 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | S----S--PIHFA----------------->-<--GAQTSLPAFSP---GRLSRGLSEHNA-- | 2238 |
| CACNA1D | ALDQVNGSLPSLHRSSWYTDEP----DISY>R<TFTPASLTVPSSF---RNKNSDKQRSADSL | 2081 |
| CACNA1E | R----H--AGSIS----------------->-<--PPADGSEEGSP---LT-SQALESNNACL | 2207 |
| CACNA1F | AGEGYLGRS-----------------SGPL>R<TFT--CLHVPGTH---SDPSHGKRGSADSL | 1898 |
| CACNA1G | EAQSCQRRPTSWLDEQRRHSIAVSCLDSGS>Q<PHLGTDPSNLGG---QPLGGPGSRPKKKLS | 2307 |
| CACNA1H | DAQGFLDKPGR-ADEQWRPSAELGSGEP-->-<----GEAKAWGP---EAEPALGARRKKKMS | 2188 |
| CACNA1I | RGRGLFSLRG--LRAHQRSHSSGGSTSPGC>T<HHDSMDPSDEEGRGGAGGGGAGSEHSETLS | 2128 |
| CACNA1S | PEDRKSSTPGSLHE-----ETP-------->-<-------HSRSTR---ENTSRCSAPATALL | 1787 |
| SCN10A | D-------E--------------------->-<----------------------------A- | 1946 |
| SCN11A | ------------------------------>-<------------------------------ | |
| SCN1A | A----------------------------->-<------------------------------ | 2006 |
| SCN2A | D----------------------------->-<------------------------------ | 1995 |
| SCN3A | S----------------------------->-<------------------------------ | 1990 |
| SCN4A | T----------------------------->-<------------------------------ | 1826 |
| SCN5A | D-------L--------------------->-<----------------------------A- | 2002 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | K----------------------------->-<------------------------------ | 1970 |
| SCN9A | D----------------------------->-<------------------------------ | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2009Q | c.6026G>A | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |