No paralogue variants have been mapped to residue 1953 for CACNA1C.
CACNA1C | P--LL------------QRSHSPASFPRPF>A<TPPATPGSRGWPPQPVPTLRLEGVESSEKL | 1983 |
CACNA1A | -----------HHHHHHHHPPPPDKDRYAQ>-<ERPDHG------RARARDQRWS-------- | 2247 |
CACNA1B | PGPHPQGSGSVNGSPLLSTSGASTPGRGGR>R<QLPQTP------LTPRPSITYKTANS---- | 2209 |
CACNA1D | S--SK------------AQKYSPSHSTRSW>A<TPPATPPYRDWTPCYTPLIQVEQSEALDQV | 2032 |
CACNA1E | QTPNRQGTGSLSESSIPSVSDTSTP-RRSR>R<QLPPVP------PKPRPLLSYSSLIR---- | 2177 |
CACNA1F | ---HR------------GRNSGPNRAQGSW>A<TPPQRG-----RLLYAPLLLVEEGAAGEGY | 1864 |
CACNA1G | ----------------------------SW>I<SGDLLPPGGQEEPPSPRDLKKCYSVEAQSC | 2254 |
CACNA1H | ------------------------------>-<----------------RDLRRLYSVDAQGF | 2143 |
CACNA1I | ------------------------------>-<----------------PAARRRLSLRGRGL | 2074 |
CACNA1S | P--RG------------QAPPAPCQCP--->-<-------------------RVESSMPEDRK | 1755 |
SCN10A | ------------------------------>-<-------------S---S--SIQNED---- | 1944 |
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---- | 2000 |
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.A1953D | c.5858C>A | Putative Benign | SIFT: Polyphen: |