No paralogue variants have been mapped to residue 226 for CACNA1C.
CACNA1C | LLDFIIVVVGLFSAILEQATKA-DGANALG>G<KGAGFDVKALRAFRVLRPLRLVSGVPSLQV | 256 |
CACNA1A | VMDFVVVLTGILATVGTEF----------->-<-----DLRTLRAVRVLRPLKLVSGIPSLQV | 214 |
CACNA1B | VMDFVVVLTGILATAGTDF----------->-<-----DLRTLRAVRVLRPLKLVSGIPSLQV | 211 |
CACNA1D | LLDFVIVIVGLFSVILEQLTKETEGGNHSS>G<KSGGFDVKALRAFRVLRPLRLVSGVPSLQV | 259 |
CACNA1E | VMDFIVVLSGILATAGTHFN---------->-<--THVDLRTLRAVRVLRPLKLVSGIPSLQI | 209 |
CACNA1F | LLDFIIVVVGLFSVLLEQGPGRPGDAPHTG>G<KPGGFDVKALRAFRVLRPLRLVSGVPSLHI | 225 |
CACNA1G | RLDFFIVIAGMLEYSLDLQ----------->-<---NVSFSAVRTVRVLRPLRAINRVPSMRI | 199 |
CACNA1H | RLDFFIVVAGMMEYSLDGH----------->-<---NVSLSAIRTVRVLRPLRAINRVPSMRI | 218 |
CACNA1I | RLDFFIVMAGMVEYSLDLQ----------->-<---NINLSAIRTVRVLRPLKAINRVPSMRI | 197 |
CACNA1S | VLDFTIVFLGVFTVILEQVNVIQSHTAPMS>S<KGAGLDVKALRAFRVLRPLRLVSGVPSLQV | 184 |
SCN10A | WLDFSVITLAYVGTAIDLR----------->-<-----GISGLRTFRVLRALKTVSVIPGLKV | 234 |
SCN11A | WLDSIVIGIAIVSYIPGIT----------->-<----IKLLPLRTFRVFRALKAISVVSRLKV | 241 |
SCN1A | WLDFTVITFAYVTEFVDLG----------->-<-----NVSALRTFRVLRALKTISVIPGLKT | 235 |
SCN2A | WLDFTVITFAYVTEFVDLG----------->-<-----NVSALRTFRVLRALKTISVIPGLKT | 236 |
SCN3A | WLDFSVIVMAYVTEFVDLG----------->-<-----NVSALRTFRVLRALKTISVIPGLKT | 235 |
SCN4A | WLDFSVIMMAYLTEFVDLG----------->-<-----NISALRTFRVLRALKTITVIPGLKT | 238 |
SCN5A | WLDFSVIIMAYVSENIKLG----------->-<-----NLSALRTFRVLRALKTISVIPGLKT | 238 |
SCN7A | WLDFSVTVFEVIIRYSPLD----------->-<-----FIPTLQTARTLRILKIIPLNQGLKS | 225 |
SCN8A | WLDFSVIMMAYITEFVNLG----------->-<-----NVSALRTFRVLRALKTISVIPGLKT | 239 |
SCN9A | WLDFVVIVFAYLTEFVNLG----------->-<-----NVSALRTFRVLRALKTISVIPGLKT | 233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G226R | c.676G>A | Putative Benign | rs267603426 | SIFT: deleterious Polyphen: possibly damaging |