No paralogue variants have been mapped to residue 1999 for CACNA1C.
| CACNA1C | VPTLRLEGVESSEKLNSSFPSIHCGSWAET>T<PGGGGSSAARRVRPVSLMVPSQA---GAPG | 2026 |
| CACNA1A | ARDQRWS----------------------->-<------------------------------ | 2247 |
| CACNA1B | RPSITYKTANS----S--PIHFA------->-<------------GAQTSLPAFSP---GRLS | 2230 |
| CACNA1D | TPLIQVEQSEALDQVNGSLPSLHRSSWYTD>E<P----DISYRTFTPASLTVPSSF---RNKN | 2071 |
| CACNA1E | RPLLSYSSLIR----H--AGSIS------->-<------------PPADGSEEGSP---LT-S | 2197 |
| CACNA1F | APLLLVEEGAAGEGYLGRS----------->-<-----SGPLRTFT--CLHVPGTH---SDPS | 1888 |
| CACNA1G | PRDLKKCYSVEAQSCQRRPTSWLDEQRRHS>I<AVSCLDSGSQPHLGTDPSNLGG---QPLGG | 2297 |
| CACNA1H | -RDLRRLYSVDAQGFLDKPGR-ADEQWRPS>A<ELGSGEP-------GEAKAWGP---EAEPA | 2178 |
| CACNA1I | -PAARRRLSLRGRGLFSLRG--LRAHQRSH>S<SGGSTSPGCTHHDSMDPSDEEGRGGAGGGG | 2118 |
| CACNA1S | ----RVESSMPEDRKSSTPGSLHE-----E>T<P----------------HSRSTR---ENTS | 1777 |
| SCN10A | --S--SIQNED-------E----------->-<------------------------------ | 1945 |
| SCN11A | --G--KVHC--------------------->-<------------------------------ | 1790 |
| SCN1A | --E--GKDEKA------------------->-<------------------------------ | 2006 |
| SCN2A | --D--KSEKED------------------->-<------------------------------ | 1995 |
| SCN3A | --D--KPEKES------------------->-<------------------------------ | 1990 |
| SCN4A | --A--PPPGQT------------------->-<------------------------------ | 1826 |
| SCN5A | --D--YSHSED-------L----------->-<------------------------------ | 2001 |
| SCN7A | --S--P------------------------>-<------------------------------ | 1677 |
| SCN8A | --G--RRERAK------------------->-<------------------------------ | 1970 |
| SCN9A | --D--RTEKED------------------->-<------------------------------ | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1999I | c.5996C>T | Putative Benign | SIFT: tolerated Polyphen: benign |