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 |