No paralogue variants have been mapped to residue 751 for SCN5A.
SCN5A | LTITMCIVLNTLFMALEHYNMTSEFEEMLQ>V<GNLVFTGIFTAEMTFKIIALDPYYYFQQGW | 781 |
SCN1A | LAITICIVLNTLFMAMEHYPMTDHFNNVLT>V<GNLVFTGIFTAEMFLKIIAMDPYYYFQEGW | 832 |
SCN2A | LAITICIVLNTLFMAMEHYPMTEQFSSVLS>V<GNLVFTGIFTAEMFLKIIAMDPYYYFQEGW | 823 |
SCN3A | LAITICIVLNTLFMAMEHYPMTEQFSSVLT>V<GNLVFTGIFTAEMVLKIIAMDPYYYFQEGW | 824 |
SCN4A | LGITICIVLNTLFMAMEHYPMTEHFDNVLT>V<GNLVFTGIFTAEMVLKLIAMDPYEYFQQGW | 642 |
SCN7A | LFLIICIILNVCFLTLEHYPMSKQTNTLLN>I<GNLVFIGIFTAEMIFKIIAMHPYGYFQVGW | 569 |
SCN8A | LAITICIVLNTLFMAMEHHPMTPQFEHVLA>V<GNLVFTGIFTAEMFLKLIAMDPYYYFQEGW | 817 |
SCN9A | LAITICIVLNTLFMAMEHHPMTEEFKNVLA>I<GNLVFTGIFAAEMVLKLIAMDPYEYFQVGW | 797 |
SCN10A | LTITLCIVVNTIFMAMEHHGMSPTFEAMLQ>I<GNIVFTIFFTAEMVFKIIAFDPYYYFQKKW | 729 |
SCN11A | LAITICIIINTVFLAMEHHKMEASFEKMLN>I<GNLVFTSIFIAEMCLKIIALDPYHYFRRGW | 641 |
CACNA1A | WTVLSLVALNTLCVAIVHYNQPEWLSDFLY>Y<AEFIFLGLFMSEMFIKMYGLGTRPYFHSSF | 551 |
CACNA1B | WVVLCVVALNTLCVAMVHYNQPRRLTTTLY>F<AEFVFLGLFLTEMSLKMYGLGPRSYFRSSF | 547 |
CACNA1C | WLVIFLVFLNTLTIASEHYNQPNWLTEVQD>T<ANKALLALFTAEMLLKMYSLGLQAYFVSLF | 588 |
CACNA1D | WLVIVLVFLNTLTISSEHYNQPDWLTQIQD>I<ANKVLLALFTCEMLVKMYSLGLQAYFVSLF | 607 |
CACNA1E | WIVLSLVALNTACVAIVHHNQPQWLTHLLY>Y<AEFLFLGLFLLEMSLKMYGMGPRLYFHSSF | 540 |
CACNA1F | WAVLLLVFLNTLTIASEHHGQPVWLTQIQE>Y<ANKVLLCLFTVEMLLKLYGLGPSAYVSSFF | 593 |
CACNA1G | RGIMIAILVNTLSMGIEYHEQPEELTNALE>I<SNIVFTSLFALEMLLKLLVYGPFGYIKNPY | 807 |
CACNA1H | RGIMMAILVNTLSMGVEYHEQPEELTNALE>I<SNIVFTSMFALEMLLKLLACGPLGYIRNPY | 857 |
CACNA1I | RGIMMAILVNTVSMGIEHHEQPEELTNILE>I<CNVVFTSMFALEMILKLAAFGLFDYLRNPY | 704 |
CACNA1S | WLVILIVALNTLSIASEHHNQPLWLTRLQD>I<ANRVLLSLFTTEMLMKMYGLGLRQYFMSIF | 496 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V751I | c.2251G>A | Putative Benign | SIFT: Polyphen: | ||
p.V751F | c.2251G>T | Putative Benign | SIFT: Polyphen: |