No paralogue variants have been mapped to residue 2039 for CACNA1C.
CACNA1C | RPVSLMVPSQA---GAPGRQFHGSASSLVE>A<-----VL--ISEG----LGQFAQD------ | 2052 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | GAQTSLPAFSP---GRLSRGLSEHNA---->-<LLQRDPL--SQPL----APGSRIG------ | 2256 |
CACNA1D | TPASLTVPSSF---RNKNSDKQRSADSLVE>A<-----VL--ISEG----LGRYARD------ | 2097 |
CACNA1E | PPADGSEEGSP---LT-SQALESNNACLTE>S<SNSPHPQ--QSQH----ASPQRYI------ | 2228 |
CACNA1F | T--CLHVPGTH---SDPSHGKRGSADSLVE>A<-----VL--ISEG----LGLFARD------ | 1914 |
CACNA1G | LGTDPSNLGG---QPLGGPGSRPKKKLSPP>S<-----IT--IDPP----ESQGPRT------ | 2323 |
CACNA1H | --GEAKAWGP---EAEPALGARRKKKMSPP>C<-----I--SVEPPAEDEGSARPSAAEGGST | 2214 |
CACNA1I | DSMDPSDEEGRGGAGGGGAGSEHSETLSSL>S<-----LTSLFCPP----PP----------- | 2141 |
CACNA1S | -----HSRSTR---ENTSRCSAPATALLIQ>K<-----AL--VRGG----LGTLAAD------ | 1803 |
SCN10A | --------------------------A--->-<------------------------------ | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN5A | --------------------------A--->-<------------------------------ | 2002 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2039G | c.6116C>G | Putative Benign | SIFT: Polyphen: |