No paralogue variants have been mapped to residue 2007 for CACNA1C.
CACNA1C | VESSEKLNSSFPSIHCGSWAETTPGGGGSS>A<ARRVRPVSLMVPSQA---GAPGRQFHGSAS | 2034 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ANS----S--PIHFA--------------->-<----GAQTSLPAFSP---GRLSRGLSEHNA | 2238 |
CACNA1D | SEALDQVNGSLPSLHRSSWYTDEP----DI>S<YRTFTPASLTVPSSF---RNKNSDKQRSAD | 2079 |
CACNA1E | LIR----H--AGSIS--------------->-<----PPADGSEEGSP---LT-SQALESNNA | 2205 |
CACNA1F | GAAGEGYLGRS-----------------SG>P<LRTFT--CLHVPGTH---SDPSHGKRGSAD | 1896 |
CACNA1G | SVEAQSCQRRPTSWLDEQRRHSIAVSCLDS>G<SQPHLGTDPSNLGG---QPLGGPGSRPKKK | 2305 |
CACNA1H | SVDAQGFLDKPGR-ADEQWRPSAELGSGEP>-<------GEAKAWGP---EAEPALGARRKKK | 2186 |
CACNA1I | SLRGRGLFSLRG--LRAHQRSHSSGGSTSP>G<CTHHDSMDPSDEEGRGGAGGGGAGSEHSET | 2126 |
CACNA1S | SMPEDRKSSTPGSLHE-----ETP------>-<---------HSRSTR---ENTSRCSAPATA | 1785 |
SCN10A | NED-------E------------------->-<------------------------------ | 1945 |
SCN11A | C----------------------------->-<------------------------------ | 1790 |
SCN1A | EKA--------------------------->-<------------------------------ | 2006 |
SCN2A | KED--------------------------->-<------------------------------ | 1995 |
SCN3A | KES--------------------------->-<------------------------------ | 1990 |
SCN4A | GQT--------------------------->-<------------------------------ | 1826 |
SCN5A | SED-------L------------------->-<------------------------------ | 2001 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | RAK--------------------------->-<------------------------------ | 1970 |
SCN9A | KED--------------------------->-<------------------------------ | 1967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2007T | c.6019G>A | Putative Benign | SIFT: Polyphen: |