No paralogue variants have been mapped to residue 1990 for CACNA1C.
| CACNA1C | GSRGWPPQPVPTLRLEGVESSEKLNSSFPS>I<HCGSWAETTPGGGGSSAARRVRPVSLMVPS | 2020 |
| CACNA1A | ------RARARDQRWS-------------->-<------------------------------ | 2247 |
| CACNA1B | ------LTPRPSITYKTANS----S--PIH>F<A--------------------GAQTSLPAF | 2224 |
| CACNA1D | PYRDWTPCYTPLIQVEQSEALDQVNGSLPS>L<HRSSWYTDEP----DISYRTFTPASLTVPS | 2065 |
| CACNA1E | ------PKPRPLLSYSSLIR----H--AGS>I<S--------------------PPADGSEEG | 2192 |
| CACNA1F | -----RLLYAPLLLVEEGAAGEGYLGRS-->-<--------------SGPLRTFT--CLHVPG | 1882 |
| CACNA1G | PGGQEEPPSPRDLKKCYSVEAQSCQRRPTS>W<LDEQRRHSIAVSCLDSGSQPHLGTDPSNLG | 2291 |
| CACNA1H | ----------RDLRRLYSVDAQGFLDKPGR>-<ADEQWRPSAELGSGEP-------GEAKAWG | 2172 |
| CACNA1I | ----------PAARRRLSLRGRGLFSLRG->-<LRAHQRSHSSGGSTSPGCTHHDSMDPSDEE | 2109 |
| CACNA1S | -------------RVESSMPEDRKSSTPGS>L<HE-----ETP----------------HSRS | 1771 |
| SCN10A | -------S---S--SIQNED-------E-->-<------------------------------ | 1945 |
| SCN11A | -----------G--KVHC------------>-<------------------------------ | 1790 |
| SCN1A | -------Q---E--GKDEKA---------->-<------------------------------ | 2006 |
| SCN2A | -------K---D--KSEKED---------->-<------------------------------ | 1995 |
| SCN3A | -------K---D--KPEKES---------->-<------------------------------ | 1990 |
| SCN4A | -------P---A--PPPGQT---------->-<------------------------------ | 1826 |
| SCN5A | -------S---D--YSHSED-------L-->-<------------------------------ | 2001 |
| SCN7A | -----------S--P--------------->-<------------------------------ | 1677 |
| SCN8A | -------E---G--RRERAK---------->-<------------------------------ | 1970 |
| SCN9A | -------Q---D--RTEKED---------->-<------------------------------ | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1990M | c.5970C>G | Putative Benign | SIFT: Polyphen: |