No paralogue variants have been mapped to residue 2028 for CACNA1C.
CACNA1C | GGGGSSAARRVRPVSLMVPSQA---GAPGR>Q<FHGSASSLVEA-----VL--ISEG----LG | 2047 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | -----------GAQTSLPAFSP---GRLSR>G<LSEHNA-----LLQRDPL--SQPL----AP | 2251 |
CACNA1D | ----DISYRTFTPASLTVPSSF---RNKNS>D<KQRSADSLVEA-----VL--ISEG----LG | 2092 |
CACNA1E | -----------PPADGSEEGSP---LT-SQ>A<LESNNACLTESSNSPHPQ--QSQH----AS | 2223 |
CACNA1F | ----SGPLRTFT--CLHVPGTH---SDPSH>G<KRGSADSLVEA-----VL--ISEG----LG | 1909 |
CACNA1G | VSCLDSGSQPHLGTDPSNLGG---QPLGGP>G<SRPKKKLSPPS-----IT--IDPP----ES | 2318 |
CACNA1H | LGSGEP-------GEAKAWGP---EAEPAL>G<ARRKKKMSPPC-----I--SVEPPAEDEGS | 2203 |
CACNA1I | GGSTSPGCTHHDSMDPSDEEGRGGAGGGGA>G<SEHSETLSSLS-----LTSLFCPP----PP | 2141 |
CACNA1S | ----------------HSRSTR---ENTSR>C<SAPATALLIQK-----AL--VRGG----LG | 1798 |
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.Q2028H | c.6084G>T | Putative Benign | SIFT: Polyphen: | ||
p.Q2028H | c.6084G>C | Putative Benign | SIFT: Polyphen: |