No paralogue variants have been mapped to residue 1969 for CACNA1C.
CACNA1C | -QRSHSPASFPRPFATPPATPGSRGWPPQP>V<PTLRLEGVESSEKLNSSFPSIHCGSWAETT | 1999 |
CACNA1A | HHHPPPPDKDRYAQ-ERPDHG------RAR>A<RDQRWS------------------------ | 2247 |
CACNA1B | LSTSGASTPGRGGRRQLPQTP------LTP>R<PSITYKTANS----S--PIHFA-------- | 2215 |
CACNA1D | -AQKYSPSHSTRSWATPPATPPYRDWTPCY>T<PLIQVEQSEALDQVNGSLPSLHRSSWYTDE | 2048 |
CACNA1E | PSVSDTSTP-RRSRRQLPPVP------PKP>R<PLLSYSSLIR----H--AGSIS-------- | 2183 |
CACNA1F | -GRNSGPNRAQGSWATPPQRG-----RLLY>A<PLLLVEEGAAGEGYLGRS------------ | 1868 |
CACNA1G | ------------SWISGDLLPPGGQEEPPS>P<RDLKKCYSVEAQSCQRRPTSWLDEQRRHSI | 2270 |
CACNA1H | ------------------------------>-<RDLRRLYSVDAQGFLDKPGR-ADEQWRPSA | 2158 |
CACNA1I | ------------------------------>-<PAARRRLSLRGRGLFSLRG--LRAHQRSHS | 2088 |
CACNA1S | -QAPPAPCQCP------------------->-<---RVESSMPEDRKSSTPGSLHE-----ET | 1766 |
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.V1969I | c.5905G>A | Putative Benign | SIFT: Polyphen: |