No paralogue variants have been mapped to residue 194 for CACNA1C.
CACNA1C | LFLI-IFTVEAFLKVIAYGLLFHPNAYLRN>G<WNLLDFIIVVVGLFSAILEQATKA-DGANA | 223 |
CACNA1A | YFIG-IFCFEAGIKIIALGFAFHKGSYLRN>G<WNVMDFVVVLTGILATVGTEF--------- | 189 |
CACNA1B | YFIG-IFCFEAGIKIIALGFVFHKGSYLRN>G<WNVMDFVVVLTGILATAGTDF--------- | 186 |
CACNA1D | AFLI-IFTVETFLKIIAYGLLLHPNAYVRN>G<WNLLDFVIVIVGLFSVILEQLTKETEGGNH | 226 |
CACNA1E | YFIG-IFCFEAGIKIVALGFIFHKGSYLRN>G<WNVMDFIVVLSGILATAGTHFN-------- | 181 |
CACNA1F | VFLV-IFTVETVLKIVAYGLVLHPSAYIRN>G<WNLLDFIIVVVGLFSVLLEQGPGRPGDAPH | 192 |
CACNA1G | DFIFAFFAVEMVVKMVALGI-FGKKCYLGD>T<WNRLDFFIVIAGMLEYSLDLQ--------- | 172 |
CACNA1H | AFIFAFFAVEMVIKMVALGL-FGQKCYLGD>T<WNRLDFFIVVAGMMEYSLDGH--------- | 191 |
CACNA1I | DFIFIFFAMEMVLKMVALGI-FGKKCYLGD>T<WNRLDFFIVMAGMVEYSLDLQ--------- | 170 |
CACNA1S | FFLI-VFSIEAAMKIIAYGFLFHQDAYLRS>G<WNVLDFTIVFLGVFTVILEQVNVIQSHTAP | 151 |
SCN10A | VFTV-IYTFEALIKILARGFCLNEFTYLRD>P<WNWLDFSVITLAYVGTAIDLR--------- | 209 |
SCN11A | VFTG-IYIFEALIKILARGFILDEFSFLRD>P<WNWLDSIVIGIAIVSYIPGIT--------- | 215 |
SCN1A | TFTG-IYTFESLIKIIARGFCLEDFTFLRD>P<WNWLDFTVITFAYVTEFVDLG--------- | 210 |
SCN2A | TFTG-IYTFESLIKILARGFCLEDFTFLRD>P<WNWLDFTVITFAYVTEFVDLG--------- | 211 |
SCN3A | TFTG-IYTFESLIKILARGFCLEDFTFLRD>P<WNWLDFSVIVMAYVTEFVDLG--------- | 210 |
SCN4A | TFTG-IYTFESLIKILARGFCVDDFTFLRD>P<WNWLDFSVIMMAYLTEFVDLG--------- | 213 |
SCN5A | TFTA-IYTFESLVKILARGFCLHAFTFLRD>P<WNWLDFSVIIMAYVSENIKLG--------- | 213 |
SCN7A | TLLG-IYTFEILVKLFARGVWAGSFSFLGD>P<WNWLDFSVTVFEVIIRYSPLD--------- | 200 |
SCN8A | TFTG-IYTFESLVKIIARGFCIDGFTFLRD>P<WNWLDFSVIMMAYITEFVNLG--------- | 214 |
SCN9A | TFTG-IYTFESLVKILARGFCVGEFTFLRD>P<WNWLDFVVIVFAYLTEFVNLG--------- | 208 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G194S | c.580G>A | Putative Benign | SIFT: Polyphen: |