No paralogue variants have been mapped to residue 1986 for CACNA1C.
CACNA1C | PATPGSRGWPPQPVPTLRLEGVESSEKLNS>S<FPSIHCGSWAETTPGGGGSSAARRVRPVSL | 2016 |
CACNA1A | PDHG------RARARDQRWS---------->-<------------------------------ | 2247 |
CACNA1B | PQTP------LTPRPSITYKTANS----S->-<PIHFA--------------------GAQTS | 2220 |
CACNA1D | PATPPYRDWTPCYTPLIQVEQSEALDQVNG>S<LPSLHRSSWYTDEP----DISYRTFTPASL | 2061 |
CACNA1E | PPVP------PKPRPLLSYSSLIR----H->-<AGSIS--------------------PPADG | 2188 |
CACNA1F | PQRG-----RLLYAPLLLVEEGAAGEGYLG>R<S-----------------SGPLRTFT--CL | 1878 |
CACNA1G | DLLPPGGQEEPPSPRDLKKCYSVEAQSCQR>R<PTSWLDEQRRHSIAVSCLDSGSQPHLGTDP | 2287 |
CACNA1H | --------------RDLRRLYSVDAQGFLD>K<PGR-ADEQWRPSAELGSGEP-------GEA | 2168 |
CACNA1I | --------------PAARRRLSLRGRGLFS>L<RG--LRAHQRSHSSGGSTSPGCTHHDSMDP | 2105 |
CACNA1S | -----------------RVESSMPEDRKSS>T<PGSLHE-----ETP---------------- | 1767 |
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.S1986N | c.5957G>A | Putative Benign | SIFT: Polyphen: |