No paralogue variants have been mapped to residue 758 for SCN5A.
SCN5A | VLNTLFMALEHYNMTSEFEEMLQVGNLVFT>G<IFTAEMTFKIIALDPYYYFQQGWNIFDSII | 788 |
SCN1A | VLNTLFMAMEHYPMTDHFNNVLTVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI | 839 |
SCN2A | VLNTLFMAMEHYPMTEQFSSVLSVGNLVFT>G<IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI | 830 |
SCN3A | VLNTLFMAMEHYPMTEQFSSVLTVGNLVFT>G<IFTAEMVLKIIAMDPYYYFQEGWNIFDGII | 831 |
SCN4A | VLNTLFMAMEHYPMTEHFDNVLTVGNLVFT>G<IFTAEMVLKLIAMDPYEYFQQGWNIFDSII | 649 |
SCN7A | ILNVCFLTLEHYPMSKQTNTLLNIGNLVFI>G<IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI | 576 |
SCN8A | VLNTLFMAMEHHPMTPQFEHVLAVGNLVFT>G<IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI | 824 |
SCN9A | VLNTLFMAMEHHPMTEEFKNVLAIGNLVFT>G<IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI | 804 |
SCN10A | VVNTIFMAMEHHGMSPTFEAMLQIGNIVFT>I<FFTAEMVFKIIAFDPYYYFQKKWNIFDCII | 736 |
SCN11A | IINTVFLAMEHHKMEASFEKMLNIGNLVFT>S<IFIAEMCLKIIALDPYHYFRRGWNIFDSIV | 648 |
CACNA1A | ALNTLCVAIVHYNQPEWLSDFLYYAEFIFL>G<LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV | 558 |
CACNA1B | ALNTLCVAMVHYNQPRRLTTTLYFAEFVFL>G<LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV | 554 |
CACNA1C | FLNTLTIASEHYNQPNWLTEVQDTANKALL>A<LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV | 595 |
CACNA1D | FLNTLTISSEHYNQPDWLTQIQDIANKVLL>A<LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV | 614 |
CACNA1E | ALNTACVAIVHHNQPQWLTHLLYYAEFLFL>G<LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV | 547 |
CACNA1F | FLNTLTIASEHHGQPVWLTQIQEYANKVLL>C<LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV | 600 |
CACNA1G | LVNTLSMGIEYHEQPEELTNALEISNIVFT>S<LFALEMLLKLLVYGPFGYIKNPYNIFDGVI | 814 |
CACNA1H | LVNTLSMGVEYHEQPEELTNALEISNIVFT>S<MFALEMLLKLLACGPLGYIRNPYNIFDGII | 864 |
CACNA1I | LVNTVSMGIEHHEQPEELTNILEICNVVFT>S<MFALEMILKLAAFGLFDYLRNPYNIFDSII | 711 |
CACNA1S | ALNTLSIASEHHNQPLWLTRLQDIANRVLL>S<LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV | 503 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G758E | c.2273G>A | Inherited Arrhythmia | BrS | rs199473154 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |