No paralogue variants have been mapped to residue 222 for CACNA1C.
CACNA1C | NGWNLLDFIIVVVGLFSAILEQATKA-DGA>N<ALGGKGAGFDVKALRAFRVLRPLRLVSGVP | 252 |
CACNA1A | NGWNVMDFVVVLTGILATVGTEF------->-<---------DLRTLRAVRVLRPLKLVSGIP | 210 |
CACNA1B | NGWNVMDFVVVLTGILATAGTDF------->-<---------DLRTLRAVRVLRPLKLVSGIP | 207 |
CACNA1D | NGWNLLDFVIVIVGLFSVILEQLTKETEGG>N<HSSGKSGGFDVKALRAFRVLRPLRLVSGVP | 255 |
CACNA1E | NGWNVMDFIVVLSGILATAGTHFN------>-<------THVDLRTLRAVRVLRPLKLVSGIP | 205 |
CACNA1F | NGWNLLDFIIVVVGLFSVLLEQGPGRPGDA>P<HTGGKPGGFDVKALRAFRVLRPLRLVSGVP | 221 |
CACNA1G | DTWNRLDFFIVIAGMLEYSLDLQ------->-<-------NVSFSAVRTVRVLRPLRAINRVP | 195 |
CACNA1H | DTWNRLDFFIVVAGMMEYSLDGH------->-<-------NVSLSAIRTVRVLRPLRAINRVP | 214 |
CACNA1I | DTWNRLDFFIVMAGMVEYSLDLQ------->-<-------NINLSAIRTVRVLRPLKAINRVP | 193 |
CACNA1S | SGWNVLDFTIVFLGVFTVILEQVNVIQSHT>A<PMSSKGAGLDVKALRAFRVLRPLRLVSGVP | 180 |
SCN10A | DPWNWLDFSVITLAYVGTAIDLR------->-<---------GISGLRTFRVLRALKTVSVIP | 230 |
SCN11A | DPWNWLDSIVIGIAIVSYIPGIT------->-<--------IKLLPLRTFRVFRALKAISVVS | 237 |
SCN1A | DPWNWLDFTVITFAYVTEFVDLG------->-<---------NVSALRTFRVLRALKTISVIP | 231 |
SCN2A | DPWNWLDFTVITFAYVTEFVDLG------->-<---------NVSALRTFRVLRALKTISVIP | 232 |
SCN3A | DPWNWLDFSVIVMAYVTEFVDLG------->-<---------NVSALRTFRVLRALKTISVIP | 231 |
SCN4A | DPWNWLDFSVIMMAYLTEFVDLG------->-<---------NISALRTFRVLRALKTITVIP | 234 |
SCN5A | DPWNWLDFSVIIMAYVSENIKLG------->-<---------NLSALRTFRVLRALKTISVIP | 234 |
SCN7A | DPWNWLDFSVTVFEVIIRYSPLD------->-<---------FIPTLQTARTLRILKIIPLNQ | 221 |
SCN8A | DPWNWLDFSVIMMAYITEFVNLG------->-<---------NVSALRTFRVLRALKTISVIP | 235 |
SCN9A | DPWNWLDFVVIVFAYLTEFVNLG------->-<---------NVSALRTFRVLRALKTISVIP | 229 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N222D | c.664A>G | Putative Benign | rs373085638 | SIFT: tolerated Polyphen: benign |