No paralogue variants have been mapped to residue 1971 for CACNA1C.
CACNA1C | RSHSPASFPRPFATPPATPGSRGWPPQPVP>T<LRLEGVESSEKLNSSFPSIHCGSWAETTPG | 2001 |
CACNA1A | HPPPPDKDRYAQ-ERPDHG------RARAR>D<QRWS-------------------------- | 2247 |
CACNA1B | TSGASTPGRGGRRQLPQTP------LTPRP>S<ITYKTANS----S--PIHFA---------- | 2215 |
CACNA1D | QKYSPSHSTRSWATPPATPPYRDWTPCYTP>L<IQVEQSEALDQVNGSLPSLHRSSWYTDEP- | 2049 |
CACNA1E | VSDTSTP-RRSRRQLPPVP------PKPRP>L<LSYSSLIR----H--AGSIS---------- | 2183 |
CACNA1F | RNSGPNRAQGSWATPPQRG-----RLLYAP>L<LLVEEGAAGEGYLGRS-------------- | 1868 |
CACNA1G | ----------SWISGDLLPPGGQEEPPSPR>D<LKKCYSVEAQSCQRRPTSWLDEQRRHSIAV | 2272 |
CACNA1H | -----------------------------R>D<LRRLYSVDAQGFLDKPGR-ADEQWRPSAEL | 2160 |
CACNA1I | -----------------------------P>A<ARRRLSLRGRGLFSLRG--LRAHQRSHSSG | 2090 |
CACNA1S | APPAPCQCP--------------------->-<-RVESSMPEDRKSSTPGSLHE-----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.T1971A | c.5911A>G | Putative Benign | SIFT: Polyphen: |