No paralogue variants have been mapped to residue 1974 for CACNA1C.
CACNA1C | SPASFPRPFATPPATPGSRGWPPQPVPTLR>L<EGVESSEKLNSSFPSIHCGSWAETTPGGGG | 2004 |
CACNA1A | PPDKDRYAQ-ERPDHG------RARARDQR>W<S----------------------------- | 2247 |
CACNA1B | ASTPGRGGRRQLPQTP------LTPRPSIT>Y<KTANS----S--PIHFA------------- | 2215 |
CACNA1D | SPSHSTRSWATPPATPPYRDWTPCYTPLIQ>V<EQSEALDQVNGSLPSLHRSSWYTDEP---- | 2049 |
CACNA1E | TSTP-RRSRRQLPPVP------PKPRPLLS>Y<SSLIR----H--AGSIS------------- | 2183 |
CACNA1F | GPNRAQGSWATPPQRG-----RLLYAPLLL>V<EEGAAGEGYLGRS----------------- | 1868 |
CACNA1G | -------SWISGDLLPPGGQEEPPSPRDLK>K<CYSVEAQSCQRRPTSWLDEQRRHSIAVSCL | 2275 |
CACNA1H | --------------------------RDLR>R<LYSVDAQGFLDKPGR-ADEQWRPSAELGSG | 2163 |
CACNA1I | --------------------------PAAR>R<RLSLRGRGLFSLRG--LRAHQRSHSSGGST | 2093 |
CACNA1S | APCQCP-----------------------R>V<ESSMPEDRKSSTPGSLHE-----ETP---- | 1767 |
SCN10A | -----------------------S---S-->S<IQNED-------E----------------- | 1945 |
SCN11A | ---------------------------G-->K<VHC--------------------------- | 1790 |
SCN1A | -----------------------Q---E-->G<KDEKA------------------------- | 2006 |
SCN2A | -----------------------K---D-->K<SEKED------------------------- | 1995 |
SCN3A | -----------------------K---D-->K<PEKES------------------------- | 1990 |
SCN4A | -----------------------P---A-->P<PPGQT------------------------- | 1826 |
SCN5A | -----------------------S---D-->Y<SHSED-------L----------------- | 2001 |
SCN7A | ---------------------------S-->P<------------------------------ | 1677 |
SCN8A | -----------------------E---G-->R<RERAK------------------------- | 1970 |
SCN9A | -----------------------Q---D-->R<TEKED------------------------- | 1967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1974F | c.5920C>T | Putative Benign | SIFT: Polyphen: |