No paralogue variants have been mapped to residue 1998 for CACNA1C.
CACNA1C | PVPTLRLEGVESSEKLNSSFPSIHCGSWAE>T<TPGGGGSSAARRVRPVSLMVPSQA---GAP | 2025 |
CACNA1A | RARDQRWS---------------------->-<------------------------------ | 2247 |
CACNA1B | PRPSITYKTANS----S--PIHFA------>-<-------------GAQTSLPAFSP---GRL | 2229 |
CACNA1D | YTPLIQVEQSEALDQVNGSLPSLHRSSWYT>D<EP----DISYRTFTPASLTVPSSF---RNK | 2070 |
CACNA1E | PRPLLSYSSLIR----H--AGSIS------>-<-------------PPADGSEEGSP---LT- | 2196 |
CACNA1F | YAPLLLVEEGAAGEGYLGRS---------->-<------SGPLRTFT--CLHVPGTH---SDP | 1887 |
CACNA1G | SPRDLKKCYSVEAQSCQRRPTSWLDEQRRH>S<IAVSCLDSGSQPHLGTDPSNLGG---QPLG | 2296 |
CACNA1H | --RDLRRLYSVDAQGFLDKPGR-ADEQWRP>S<AELGSGEP-------GEAKAWGP---EAEP | 2177 |
CACNA1I | --PAARRRLSLRGRGLFSLRG--LRAHQRS>H<SSGGSTSPGCTHHDSMDPSDEEGRGGAGGG | 2117 |
CACNA1S | -----RVESSMPEDRKSSTPGSLHE----->E<TP----------------HSRSTR---ENT | 1776 |
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.T1998N | c.5993C>A | Putative Benign | SIFT: Polyphen: |