No paralogue variants have been mapped to residue 171 for CACNA1C.
CACNA1C | AIYIPFPEDDSNATNSNLERVEYLFLI-IF>T<VEAFLKVIAYGLLFHPNAYLRNGWNLLDFI | 201 |
CACNA1A | ALEQHLPDDDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFAFHKGSYLRNGWNVMDFV | 175 |
CACNA1B | ALEQHLPDGDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFVFHKGSYLRNGWNVMDFV | 172 |
CACNA1D | AIYIPFPEDDSNSTNHNLEKVEYAFLI-IF>T<VETFLKIIAYGLLLHPNAYVRNGWNLLDFV | 203 |
CACNA1E | ALEQHLPEDDKTPMSRRLEKTEPYFIG-IF>C<FEAGIKIVALGFIFHKGSYLRNGWNVMDFI | 166 |
CACNA1F | GVYIPFPEDDSNTANHNLEQVEYVFLV-IF>T<VETVLKIVAYGLVLHPSAYIRNGWNLLDFI | 169 |
CACNA1G | GMFRPCEDIACDSQRCRILQAFDDFIFAFF>A<VEMVVKMVALGI-FGKKCYLGDTWNRLDFF | 158 |
CACNA1H | GMFRPCEDVECGSERCNILEAFDAFIFAFF>A<VEMVIKMVALGL-FGQKCYLGDTWNRLDFF | 177 |
CACNA1I | GMYQPCDDMDCLSDRCKILQVFDDFIFIFF>A<MEMVLKMVALGI-FGKKCYLGDTWNRLDFF | 156 |
CACNA1S | AVYLPMPEDDNNSLNLGLEKLEYFFLI-VF>S<IEAAMKIIAYGFLFHQDAYLRSGWNVLDFT | 128 |
SCN10A | TRT------D-LPE-----KIEYVFTV-IY>T<FEALIKILARGFCLNEFTYLRDPWNWLDFS | 195 |
SCN11A | ATGPA-K--NSNSNNT--DIAECVFTG-IY>I<FEALIKILARGFILDEFSFLRDPWNWLDSI | 201 |
SCN1A | TMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKIIARGFCLEDFTFLRDPWNWLDFT | 196 |
SCN2A | TMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFT | 197 |
SCN3A | TLS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFS | 196 |
SCN4A | TMS------D-PPPWS--KNVEYTFTG-IY>T<FESLIKILARGFCVDDFTFLRDPWNWLDFS | 199 |
SCN5A | AQH------D-PPPWT--KYVEYTFTA-IY>T<FESLVKILARGFCLHAFTFLRDPWNWLDFS | 199 |
SCN7A | SLT------N-LPKWR--PVLENTLLG-IY>T<FEILVKLFARGVWAGSFSFLGDPWNWLDFS | 186 |
SCN8A | TFS------N-PPDWS--KNVEYTFTG-IY>T<FESLVKIIARGFCIDGFTFLRDPWNWLDFS | 200 |
SCN9A | TMN------N-PPDWT--KNVEYTFTG-IY>T<FESLVKILARGFCVGEFTFLRDPWNWLDFV | 194 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T171M | c.512C>T | Other Cardiac Phenotype | rs199586997 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series. Pediatr Cardiol. 2015 36(4):768-78. doi: 10.1007/s00246-014-1082-4. 25500949 |