No paralogue variants have been mapped to residue 754 for SCN5A.
SCN5A | TMCIVLNTLFMALEHYNMTSEFEEMLQVGN>L<VFTGIFTAEMTFKIIALDPYYYFQQGWNIF | 784 |
SCN1A | TICIVLNTLFMAMEHYPMTDHFNNVLTVGN>L<VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF | 835 |
SCN2A | TICIVLNTLFMAMEHYPMTEQFSSVLSVGN>L<VFTGIFTAEMFLKIIAMDPYYYFQEGWNIF | 826 |
SCN3A | TICIVLNTLFMAMEHYPMTEQFSSVLTVGN>L<VFTGIFTAEMVLKIIAMDPYYYFQEGWNIF | 827 |
SCN4A | TICIVLNTLFMAMEHYPMTEHFDNVLTVGN>L<VFTGIFTAEMVLKLIAMDPYEYFQQGWNIF | 645 |
SCN7A | IICIILNVCFLTLEHYPMSKQTNTLLNIGN>L<VFIGIFTAEMIFKIIAMHPYGYFQVGWNIF | 572 |
SCN8A | TICIVLNTLFMAMEHHPMTPQFEHVLAVGN>L<VFTGIFTAEMFLKLIAMDPYYYFQEGWNIF | 820 |
SCN9A | TICIVLNTLFMAMEHHPMTEEFKNVLAIGN>L<VFTGIFAAEMVLKLIAMDPYEYFQVGWNIF | 800 |
SCN10A | TLCIVVNTIFMAMEHHGMSPTFEAMLQIGN>I<VFTIFFTAEMVFKIIAFDPYYYFQKKWNIF | 732 |
SCN11A | TICIIINTVFLAMEHHKMEASFEKMLNIGN>L<VFTSIFIAEMCLKIIALDPYHYFRRGWNIF | 644 |
CACNA1A | LSLVALNTLCVAIVHYNQPEWLSDFLYYAE>F<IFLGLFMSEMFIKMYGLGTRPYFHSSFNCF | 554 |
CACNA1B | LCVVALNTLCVAMVHYNQPRRLTTTLYFAE>F<VFLGLFLTEMSLKMYGLGPRSYFRSSFNCF | 550 |
CACNA1C | IFLVFLNTLTIASEHYNQPNWLTEVQDTAN>K<ALLALFTAEMLLKMYSLGLQAYFVSLFNRF | 591 |
CACNA1D | IVLVFLNTLTISSEHYNQPDWLTQIQDIAN>K<VLLALFTCEMLVKMYSLGLQAYFVSLFNRF | 610 |
CACNA1E | LSLVALNTACVAIVHHNQPQWLTHLLYYAE>F<LFLGLFLLEMSLKMYGMGPRLYFHSSFNCF | 543 |
CACNA1F | LLLVFLNTLTIASEHHGQPVWLTQIQEYAN>K<VLLCLFTVEMLLKLYGLGPSAYVSSFFNRF | 596 |
CACNA1G | MIAILVNTLSMGIEYHEQPEELTNALEISN>I<VFTSLFALEMLLKLLVYGPFGYIKNPYNIF | 810 |
CACNA1H | MMAILVNTLSMGVEYHEQPEELTNALEISN>I<VFTSMFALEMLLKLLACGPLGYIRNPYNIF | 860 |
CACNA1I | MMAILVNTVSMGIEHHEQPEELTNILEICN>V<VFTSMFALEMILKLAAFGLFDYLRNPYNIF | 707 |
CACNA1S | ILIVALNTLSIASEHHNQPLWLTRLQDIAN>R<VLLSLFTTEMLMKMYGLGLRQYFMSIFNRF | 499 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L754R | c.2261T>G | Putative Benign | rs75960619 | SIFT: deleterious Polyphen: probably damaging |