No paralogue variants have been mapped to residue 2023 for CACNA1C.
CACNA1C | AETTPGGGGSSAARRVRPVSLMVPSQA--->G<APGRQFHGSASSLVEA-----VL--ISEG- | 2045 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ----------------GAQTSLPAFSP--->G<RLSRGLSEHNA-----LLQRDPL--SQPL- | 2249 |
CACNA1D | YTDEP----DISYRTFTPASLTVPSSF--->R<NKNSDKQRSADSLVEA-----VL--ISEG- | 2090 |
CACNA1E | ----------------PPADGSEEGSP--->L<T-SQALESNNACLTESSNSPHPQ--QSQH- | 2221 |
CACNA1F | ---------SGPLRTFT--CLHVPGTH--->S<DPSHGKRGSADSLVEA-----VL--ISEG- | 1907 |
CACNA1G | RHSIAVSCLDSGSQPHLGTDPSNLGG---Q>P<LGGPGSRPKKKLSPPS-----IT--IDPP- | 2316 |
CACNA1H | RPSAELGSGEP-------GEAKAWGP---E>A<EPALGARRKKKMSPPC-----I--SVEPPA | 2198 |
CACNA1I | RSHSSGGSTSPGCTHHDSMDPSDEEGRGGA>G<GGGAGSEHSETLSSLS-----LTSLFCPP- | 2139 |
CACNA1S | --ETP----------------HSRSTR--->E<NTSRCSAPATALLIQK-----AL--VRGG- | 1796 |
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.G2023E | c.6068G>A | Putative Benign | rs377312264 | SIFT: tolerated Polyphen: benign |