No paralogue variants have been mapped to residue 235 for CACNA1C.
CACNA1C | GLFSAILEQATKA-DGANALGGKGAGFDVK>A<LRAFRVLRPLRLVSGVPSLQVVLNSIIKAM | 265 |
CACNA1A | GILATVGTEF-----------------DLR>T<LRAVRVLRPLKLVSGIPSLQVVLKSIMKAM | 223 |
CACNA1B | GILATAGTDF-----------------DLR>T<LRAVRVLRPLKLVSGIPSLQVVLKSIMKAM | 220 |
CACNA1D | GLFSVILEQLTKETEGGNHSSGKSGGFDVK>A<LRAFRVLRPLRLVSGVPSLQVVLNSIIKAM | 268 |
CACNA1E | GILATAGTHFN-------------THVDLR>T<LRAVRVLRPLKLVSGIPSLQIVLKSIMKAM | 218 |
CACNA1F | GLFSVLLEQGPGRPGDAPHTGGKPGGFDVK>A<LRAFRVLRPLRLVSGVPSLHIVLNSIMKAL | 234 |
CACNA1G | GMLEYSLDLQ---------------NVSFS>A<VRTVRVLRPLRAINRVPSMRILVTLLLDTL | 208 |
CACNA1H | GMMEYSLDGH---------------NVSLS>A<IRTVRVLRPLRAINRVPSMRILVTLLLDTL | 227 |
CACNA1I | GMVEYSLDLQ---------------NINLS>A<IRTVRVLRPLKAINRVPSMRILVNLLLDTL | 206 |
CACNA1S | GVFTVILEQVNVIQSHTAPMSSKGAGLDVK>A<LRAFRVLRPLRLVSGVPSLQVVLNSIFKAM | 193 |
SCN10A | AYVGTAIDLR-----------------GIS>G<LRTFRVLRALKTVSVIPGLKVIVGALIHSV | 243 |
SCN11A | AIVSYIPGIT----------------IKLL>P<LRTFRVFRALKAISVVSRLKVIVGALLRSV | 250 |
SCN1A | AYVTEFVDLG-----------------NVS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 244 |
SCN2A | AYVTEFVDLG-----------------NVS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 245 |
SCN3A | AYVTEFVDLG-----------------NVS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 244 |
SCN4A | AYLTEFVDLG-----------------NIS>A<LRTFRVLRALKTITVIPGLKTIVGALIQSV | 247 |
SCN5A | AYVSENIKLG-----------------NLS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 247 |
SCN7A | EVIIRYSPLD-----------------FIP>T<LQTARTLRILKIIPLNQGLKSLVGVLIHCL | 234 |
SCN8A | AYITEFVNLG-----------------NVS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 248 |
SCN9A | AYLTEFVNLG-----------------NVS>A<LRTFRVLRALKTISVIPGLKTIVGALIQSV | 242 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A235V | c.704C>T | Putative Benign | SIFT: Polyphen: |