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: |