No paralogue variants have been mapped to residue 2010 for CACNA1C.
CACNA1C | SEKLNSSFPSIHCGSWAETTPGGGGSSAAR>R<VRPVSLMVPSQA---GAPGRQFHGSASSLV | 2037 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ----S--PIHFA------------------>-<-GAQTSLPAFSP---GRLSRGLSEHNA--- | 2238 |
CACNA1D | LDQVNGSLPSLHRSSWYTDEP----DISYR>T<FTPASLTVPSSF---RNKNSDKQRSADSLV | 2082 |
CACNA1E | ----H--AGSIS------------------>-<-PPADGSEEGSP---LT-SQALESNNACLT | 2208 |
CACNA1F | GEGYLGRS-----------------SGPLR>T<FT--CLHVPGTH---SDPSHGKRGSADSLV | 1899 |
CACNA1G | AQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ>P<HLGTDPSNLGG---QPLGGPGSRPKKKLSP | 2308 |
CACNA1H | AQGFLDKPGR-ADEQWRPSAELGSGEP--->-<---GEAKAWGP---EAEPALGARRKKKMSP | 2189 |
CACNA1I | GRGLFSLRG--LRAHQRSHSSGGSTSPGCT>H<HDSMDPSDEEGRGGAGGGGAGSEHSETLSS | 2129 |
CACNA1S | EDRKSSTPGSLHE-----ETP--------->-<------HSRSTR---ENTSRCSAPATALLI | 1788 |
SCN10A | -------E---------------------->-<---------------------------A-- | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | -------L---------------------->-<---------------------------A-- | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2010I | c.6029G>T | Putative Benign | SIFT: Polyphen: |