No paralogue variants have been mapped to residue 174 for CACNA1C.
CACNA1C | IPFPEDDSNATNSNLERVEYLFLI-IFTVE>A<FLKVIAYGLLFHPNAYLRNGWNLLDFIIVV | 204 |
CACNA1A | QHLPDDDKTPMSERLDDTEPYFIG-IFCFE>A<GIKIIALGFAFHKGSYLRNGWNVMDFVVVL | 178 |
CACNA1B | QHLPDGDKTPMSERLDDTEPYFIG-IFCFE>A<GIKIIALGFVFHKGSYLRNGWNVMDFVVVL | 175 |
CACNA1D | IPFPEDDSNSTNHNLEKVEYAFLI-IFTVE>T<FLKIIAYGLLLHPNAYVRNGWNLLDFVIVI | 206 |
CACNA1E | QHLPEDDKTPMSRRLEKTEPYFIG-IFCFE>A<GIKIVALGFIFHKGSYLRNGWNVMDFIVVL | 169 |
CACNA1F | IPFPEDDSNTANHNLEQVEYVFLV-IFTVE>T<VLKIVAYGLVLHPSAYIRNGWNLLDFIIVV | 172 |
CACNA1G | RPCEDIACDSQRCRILQAFDDFIFAFFAVE>M<VVKMVALGI-FGKKCYLGDTWNRLDFFIVI | 161 |
CACNA1H | RPCEDVECGSERCNILEAFDAFIFAFFAVE>M<VIKMVALGL-FGQKCYLGDTWNRLDFFIVV | 180 |
CACNA1I | QPCDDMDCLSDRCKILQVFDDFIFIFFAME>M<VLKMVALGI-FGKKCYLGDTWNRLDFFIVM | 159 |
CACNA1S | LPMPEDDNNSLNLGLEKLEYFFLI-VFSIE>A<AMKIIAYGFLFHQDAYLRSGWNVLDFTIVF | 131 |
SCN10A | ------D-LPE-----KIEYVFTV-IYTFE>A<LIKILARGFCLNEFTYLRDPWNWLDFSVIT | 198 |
SCN11A | PA-K--NSNSNNT--DIAECVFTG-IYIFE>A<LIKILARGFILDEFSFLRDPWNWLDSIVIG | 204 |
SCN1A | ------N-PPDWT--KNVEYTFTG-IYTFE>S<LIKIIARGFCLEDFTFLRDPWNWLDFTVIT | 199 |
SCN2A | ------N-PPDWT--KNVEYTFTG-IYTFE>S<LIKILARGFCLEDFTFLRDPWNWLDFTVIT | 200 |
SCN3A | ------N-PPDWT--KNVEYTFTG-IYTFE>S<LIKILARGFCLEDFTFLRDPWNWLDFSVIV | 199 |
SCN4A | ------D-PPPWS--KNVEYTFTG-IYTFE>S<LIKILARGFCVDDFTFLRDPWNWLDFSVIM | 202 |
SCN5A | ------D-PPPWT--KYVEYTFTA-IYTFE>S<LVKILARGFCLHAFTFLRDPWNWLDFSVII | 202 |
SCN7A | ------N-LPKWR--PVLENTLLG-IYTFE>I<LVKLFARGVWAGSFSFLGDPWNWLDFSVTV | 189 |
SCN8A | ------N-PPDWS--KNVEYTFTG-IYTFE>S<LVKIIARGFCIDGFTFLRDPWNWLDFSVIM | 203 |
SCN9A | ------N-PPDWT--KNVEYTFTG-IYTFE>S<LVKILARGFCVGEFTFLRDPWNWLDFVVIV | 197 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A174V | c.521C>T | Unknown | SIFT: deleterious Polyphen: possibly damaging |