No paralogue variants have been mapped to residue 2008 for CACNA1C.
CACNA1C | ESSEKLNSSFPSIHCGSWAETTPGGGGSSA>A<RRVRPVSLMVPSQA---GAPGRQFHGSASS | 2035 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | NS----S--PIHFA---------------->-<---GAQTSLPAFSP---GRLSRGLSEHNA- | 2238 |
CACNA1D | EALDQVNGSLPSLHRSSWYTDEP----DIS>Y<RTFTPASLTVPSSF---RNKNSDKQRSADS | 2080 |
CACNA1E | IR----H--AGSIS---------------->-<---PPADGSEEGSP---LT-SQALESNNAC | 2206 |
CACNA1F | AAGEGYLGRS-----------------SGP>L<RTFT--CLHVPGTH---SDPSHGKRGSADS | 1897 |
CACNA1G | VEAQSCQRRPTSWLDEQRRHSIAVSCLDSG>S<QPHLGTDPSNLGG---QPLGGPGSRPKKKL | 2306 |
CACNA1H | VDAQGFLDKPGR-ADEQWRPSAELGSGEP->-<-----GEAKAWGP---EAEPALGARRKKKM | 2187 |
CACNA1I | LRGRGLFSLRG--LRAHQRSHSSGGSTSPG>C<THHDSMDPSDEEGRGGAGGGGAGSEHSETL | 2127 |
CACNA1S | MPEDRKSSTPGSLHE-----ETP------->-<--------HSRSTR---ENTSRCSAPATAL | 1786 |
SCN10A | ED-------E-------------------->-<-----------------------------A | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | KA---------------------------->-<------------------------------ | 2006 |
SCN2A | ED---------------------------->-<------------------------------ | 1995 |
SCN3A | ES---------------------------->-<------------------------------ | 1990 |
SCN4A | QT---------------------------->-<------------------------------ | 1826 |
SCN5A | ED-------L-------------------->-<-----------------------------A | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | AK---------------------------->-<------------------------------ | 1970 |
SCN9A | ED---------------------------->-<------------------------------ | 1967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2008T | c.6022G>A | Putative Benign | SIFT: Polyphen: |