No paralogue variants have been mapped to residue 789 for SCN5A.
SCN5A | IFTAEMTFKIIALDPYYYFQQGWNIFDSII>V<ILSLMELGLSRMS-----NLSVLRSFRLLR | 814 |
SCN1A | IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<TLSLVELGLANVE-----GLSVLRSFRLLR | 865 |
SCN2A | IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<SLSLMELGLANVE-----GLSVLRSFRLLR | 856 |
SCN3A | IFTAEMVLKIIAMDPYYYFQEGWNIFDGII>V<SLSLMELGLSNVE-----GLSVLRSFRLLR | 857 |
SCN4A | IFTAEMVLKLIAMDPYEYFQQGWNIFDSII>V<TLSLVELGLANVQ-----GLSVLRSFRLLR | 675 |
SCN7A | IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI>V<FHGLIELCLANVA-----GMALLRLFRMLR | 602 |
SCN8A | IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI>V<SLSLMELSLADVE-----GLSVLRSFRLLR | 850 |
SCN9A | IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI>V<TLSLVELFLADVE-----GLSVLRSFRLLR | 830 |
SCN10A | FFTAEMVFKIIAFDPYYYFQKKWNIFDCII>V<TVSLLELGVAKKG-----SLSVLRSFRLLR | 762 |
SCN11A | IFIAEMCLKIIALDPYHYFRRGWNIFDSIV>A<LLSFADVMNCVLQKR---SWPFLRSFRVLR | 676 |
CACNA1A | LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV>I<IGSIFEVIWAVIKPGTSFGISVLRALRLLR | 589 |
CACNA1B | LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV>I<VGSVFEVVWAAIKPGSSFGISVLRALRLLR | 585 |
CACNA1C | LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV>V<CGGILETILVETKIMSPLGISVLRCVRLLR | 626 |
CACNA1D | LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV>V<CGGITETILVELEIMSPLGISVFRCVRLLR | 645 |
CACNA1E | LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV>T<VGSIFEVVWAIFRPGTSFGISVLRALRLLR | 578 |
CACNA1F | LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV>V<CGGILETTLVEVGAMQPLGISVLRCVRLLR | 631 |
CACNA1G | LFALEMLLKLLVYGPFGYIKNPYNIFDGVI>V<VISVWEIVGQQGG-----GLSVLRTFRLMR | 840 |
CACNA1H | MFALEMLLKLLACGPLGYIRNPYNIFDGII>V<VISVWEIVGQADG-----GLSVLRTFRLLR | 890 |
CACNA1I | MFALEMILKLAAFGLFDYLRNPYNIFDSII>V<IISIWEIVGQADG-----GLSVLRTFRLLR | 737 |
CACNA1S | LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV>V<CSGILEILLVESGAMTPLGISVLRCIRLLR | 534 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V789I | c.2365G>A | Inherited Arrhythmia | BrS | rs199473159 | 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 | ||
p.V789A | c.2366T>C | Putative Benign | SIFT: Polyphen: |