No paralogue variants have been mapped to residue 229 for CACNA1C.
CACNA1C | FIIVVVGLFSAILEQATKA-DGANALGGKG>A<GFDVKALRAFRVLRPLRLVSGVPSLQVVLN | 259 |
CACNA1A | FVVVLTGILATVGTEF-------------->-<--DLRTLRAVRVLRPLKLVSGIPSLQVVLK | 217 |
CACNA1B | FVVVLTGILATAGTDF-------------->-<--DLRTLRAVRVLRPLKLVSGIPSLQVVLK | 214 |
CACNA1D | FVIVIVGLFSVILEQLTKETEGGNHSSGKS>G<GFDVKALRAFRVLRPLRLVSGVPSLQVVLN | 262 |
CACNA1E | FIVVLSGILATAGTHFN------------->T<HVDLRTLRAVRVLRPLKLVSGIPSLQIVLK | 212 |
CACNA1F | FIIVVVGLFSVLLEQGPGRPGDAPHTGGKP>G<GFDVKALRAFRVLRPLRLVSGVPSLHIVLN | 228 |
CACNA1G | FFIVIAGMLEYSLDLQ-------------->-<NVSFSAVRTVRVLRPLRAINRVPSMRILVT | 202 |
CACNA1H | FFIVVAGMMEYSLDGH-------------->-<NVSLSAIRTVRVLRPLRAINRVPSMRILVT | 221 |
CACNA1I | FFIVMAGMVEYSLDLQ-------------->-<NINLSAIRTVRVLRPLKAINRVPSMRILVN | 200 |
CACNA1S | FTIVFLGVFTVILEQVNVIQSHTAPMSSKG>A<GLDVKALRAFRVLRPLRLVSGVPSLQVVLN | 187 |
SCN10A | FSVITLAYVGTAIDLR-------------->-<--GISGLRTFRVLRALKTVSVIPGLKVIVG | 237 |
SCN11A | SIVIGIAIVSYIPGIT-------------->-<-IKLLPLRTFRVFRALKAISVVSRLKVIVG | 244 |
SCN1A | FTVITFAYVTEFVDLG-------------->-<--NVSALRTFRVLRALKTISVIPGLKTIVG | 238 |
SCN2A | FTVITFAYVTEFVDLG-------------->-<--NVSALRTFRVLRALKTISVIPGLKTIVG | 239 |
SCN3A | FSVIVMAYVTEFVDLG-------------->-<--NVSALRTFRVLRALKTISVIPGLKTIVG | 238 |
SCN4A | FSVIMMAYLTEFVDLG-------------->-<--NISALRTFRVLRALKTITVIPGLKTIVG | 241 |
SCN5A | FSVIIMAYVSENIKLG-------------->-<--NLSALRTFRVLRALKTISVIPGLKTIVG | 241 |
SCN7A | FSVTVFEVIIRYSPLD-------------->-<--FIPTLQTARTLRILKIIPLNQGLKSLVG | 228 |
SCN8A | FSVIMMAYITEFVNLG-------------->-<--NVSALRTFRVLRALKTISVIPGLKTIVG | 242 |
SCN9A | FVVIVFAYLTEFVNLG-------------->-<--NVSALRTFRVLRALKTISVIPGLKTIVG | 236 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A229S | c.685G>T | Putative Benign | SIFT: Polyphen: |