No paralogue variants have been mapped to residue 170 for SCN5A.
SCN5A | QH------D-PPPWT--KYVEYTFTA-IYT>F<ESLVKILARGFCLHAFTFLRDPWNWLDFSV | 200 |
SCN1A | MS------N-PPDWT--KNVEYTFTG-IYT>F<ESLIKIIARGFCLEDFTFLRDPWNWLDFTV | 197 |
SCN2A | MS------N-PPDWT--KNVEYTFTG-IYT>F<ESLIKILARGFCLEDFTFLRDPWNWLDFTV | 198 |
SCN3A | LS------N-PPDWT--KNVEYTFTG-IYT>F<ESLIKILARGFCLEDFTFLRDPWNWLDFSV | 197 |
SCN4A | MS------D-PPPWS--KNVEYTFTG-IYT>F<ESLIKILARGFCVDDFTFLRDPWNWLDFSV | 200 |
SCN7A | LT------N-LPKWR--PVLENTLLG-IYT>F<EILVKLFARGVWAGSFSFLGDPWNWLDFSV | 187 |
SCN8A | FS------N-PPDWS--KNVEYTFTG-IYT>F<ESLVKIIARGFCIDGFTFLRDPWNWLDFSV | 201 |
SCN9A | MN------N-PPDWT--KNVEYTFTG-IYT>F<ESLVKILARGFCVGEFTFLRDPWNWLDFVV | 195 |
SCN10A | RT------D-LPE-----KIEYVFTV-IYT>F<EALIKILARGFCLNEFTYLRDPWNWLDFSV | 196 |
SCN11A | TGPA-K--NSNSNNT--DIAECVFTG-IYI>F<EALIKILARGFILDEFSFLRDPWNWLDSIV | 202 |
CACNA1A | LEQHLPDDDKTPMSERLDDTEPYFIG-IFC>F<EAGIKIIALGFAFHKGSYLRNGWNVMDFVV | 176 |
CACNA1B | LEQHLPDGDKTPMSERLDDTEPYFIG-IFC>F<EAGIKIIALGFVFHKGSYLRNGWNVMDFVV | 173 |
CACNA1C | IYIPFPEDDSNATNSNLERVEYLFLI-IFT>V<EAFLKVIAYGLLFHPNAYLRNGWNLLDFII | 202 |
CACNA1D | IYIPFPEDDSNSTNHNLEKVEYAFLI-IFT>V<ETFLKIIAYGLLLHPNAYVRNGWNLLDFVI | 204 |
CACNA1E | LEQHLPEDDKTPMSRRLEKTEPYFIG-IFC>F<EAGIKIVALGFIFHKGSYLRNGWNVMDFIV | 167 |
CACNA1F | VYIPFPEDDSNTANHNLEQVEYVFLV-IFT>V<ETVLKIVAYGLVLHPSAYIRNGWNLLDFII | 170 |
CACNA1G | MFRPCEDIACDSQRCRILQAFDDFIFAFFA>V<EMVVKMVALGI-FGKKCYLGDTWNRLDFFI | 159 |
CACNA1H | MFRPCEDVECGSERCNILEAFDAFIFAFFA>V<EMVIKMVALGL-FGQKCYLGDTWNRLDFFI | 178 |
CACNA1I | MYQPCDDMDCLSDRCKILQVFDDFIFIFFA>M<EMVLKMVALGI-FGKKCYLGDTWNRLDFFI | 157 |
CACNA1S | VYLPMPEDDNNSLNLGLEKLEYFFLI-VFS>I<EAAMKIIAYGFLFHQDAYLRSGWNVLDFTI | 129 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F170I | c.508T>A | Putative Benign | rs371651284 | SIFT: deleterious Polyphen: probably damaging |