No paralogue variants have been mapped to residue 733 for SCN5A.
SCN5A | WMSIKQGVKLVVMDPFTDLTITMCIVLNTL>F<MALEHYNMTSEFEEMLQVGNLVFTGIFTAE | 763 |
SCN1A | WLKVKHVVNLVVMDPFVDLAITICIVLNTL>F<MAMEHYPMTDHFNNVLTVGNLVFTGIFTAE | 814 |
SCN2A | WLKVKHLVNLVVMDPFVDLAITICIVLNTL>F<MAMEHYPMTEQFSSVLSVGNLVFTGIFTAE | 805 |
SCN3A | WLKVKHLVNLIVMDPFVDLAITICIVLNTL>F<MAMEHYPMTEQFSSVLTVGNLVFTGIFTAE | 806 |
SCN4A | WLKFKNIIHLIVMDPFVDLGITICIVLNTL>F<MAMEHYPMTEHFDNVLTVGNLVFTGIFTAE | 624 |
SCN7A | WLKLKEFVHRIIMAPFTDLFLIICIILNVC>F<LTLEHYPMSKQTNTLLNIGNLVFIGIFTAE | 551 |
SCN8A | WIKLKEIVNLIVMDPFVDLAITICIVLNTL>F<MAMEHHPMTPQFEHVLAVGNLVFTGIFTAE | 799 |
SCN9A | WIKFKKCIYFIVMDPFVDLAITICIVLNTL>F<MAMEHHPMTEEFKNVLAIGNLVFTGIFAAE | 779 |
SCN10A | WVKLKTILFGLVTDPFAELTITLCIVVNTI>F<MAMEHHGMSPTFEAMLQIGNIVFTIFFTAE | 711 |
SCN11A | WLCVKKVLRTVMTDPFTELAITICIIINTV>F<LAMEHHKMEASFEKMLNIGNLVFTSIFIAE | 623 |
CACNA1A | ERRMRFYIRRMVKTQAFYWTVLSLVALNTL>C<VAIVHYNQPEWLSDFLYYAEFIFLGLFMSE | 533 |
CACNA1B | EKMFRFFIRRMVKAQSFYWVVLCVVALNTL>C<VAMVHYNQPRRLTTTLYFAEFVFLGLFLTE | 529 |
CACNA1C | NRFCRRKCRAAVKSNVFYWLVIFLVFLNTL>T<IASEHYNQPNWLTEVQDTANKALLALFTAE | 570 |
CACNA1D | NRFNRRRCRAAVKSVTFYWLVIVLVFLNTL>T<ISSEHYNQPDWLTQIQDIANKVLLALFTCE | 589 |
CACNA1E | ERLLRISIRHMVKSQVFYWIVLSLVALNTA>C<VAIVHHNQPQWLTHLLYYAEFLFLGLFLLE | 522 |
CACNA1F | NRVLRARCRRAVKSNACYWAVLLLVFLNTL>T<IASEHHGQPVWLTQIQEYANKVLLCLFTVE | 575 |
CACNA1G | WRLICDTFRKIVDSKYFGRGIMIAILVNTL>S<MGIEYHEQPEELTNALEISNIVFTSLFALE | 789 |
CACNA1H | WVTFSGKLRRIVDSKYFSRGIMMAILVNTL>S<MGVEYHEQPEELTNALEISNIVFTSMFALE | 839 |
CACNA1I | WRETRAKLRGIVDSKYFNRGIMMAILVNTV>S<MGIEHHEQPEELTNILEICNVVFTSMFALE | 686 |
CACNA1S | NRIFRWKCHDIVKSKVFYWLVILIVALNTL>S<IASEHHNQPLWLTRLQDIANRVLLSLFTTE | 478 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F733L | c.2199C>G | Putative Benign | SIFT: Polyphen: |