No paralogue variants have been mapped to residue 764 for SCN5A.
SCN5A | MALEHYNMTSEFEEMLQVGNLVFTGIFTAE>M<TFKIIALDPYYYFQQGWNIFDSIIVILSLM | 794 |
SCN1A | MAMEHYPMTDHFNNVLTVGNLVFTGIFTAE>M<FLKIIAMDPYYYFQEGWNIFDGFIVTLSLV | 845 |
SCN2A | MAMEHYPMTEQFSSVLSVGNLVFTGIFTAE>M<FLKIIAMDPYYYFQEGWNIFDGFIVSLSLM | 836 |
SCN3A | MAMEHYPMTEQFSSVLTVGNLVFTGIFTAE>M<VLKIIAMDPYYYFQEGWNIFDGIIVSLSLM | 837 |
SCN4A | MAMEHYPMTEHFDNVLTVGNLVFTGIFTAE>M<VLKLIAMDPYEYFQQGWNIFDSIIVTLSLV | 655 |
SCN7A | LTLEHYPMSKQTNTLLNIGNLVFIGIFTAE>M<IFKIIAMHPYGYFQVGWNIFDSMIVFHGLI | 582 |
SCN8A | MAMEHHPMTPQFEHVLAVGNLVFTGIFTAE>M<FLKLIAMDPYYYFQEGWNIFDGFIVSLSLM | 830 |
SCN9A | MAMEHHPMTEEFKNVLAIGNLVFTGIFAAE>M<VLKLIAMDPYEYFQVGWNIFDSLIVTLSLV | 810 |
SCN10A | MAMEHHGMSPTFEAMLQIGNIVFTIFFTAE>M<VFKIIAFDPYYYFQKKWNIFDCIIVTVSLL | 742 |
SCN11A | LAMEHHKMEASFEKMLNIGNLVFTSIFIAE>M<CLKIIALDPYHYFRRGWNIFDSIVALLSFA | 654 |
CACNA1A | VAIVHYNQPEWLSDFLYYAEFIFLGLFMSE>M<FIKMYGLGTRPYFHSSFNCFDCGVIIGSIF | 564 |
CACNA1B | VAMVHYNQPRRLTTTLYFAEFVFLGLFLTE>M<SLKMYGLGPRSYFRSSFNCFDFGVIVGSVF | 560 |
CACNA1C | IASEHYNQPNWLTEVQDTANKALLALFTAE>M<LLKMYSLGLQAYFVSLFNRFDCFVVCGGIL | 601 |
CACNA1D | ISSEHYNQPDWLTQIQDIANKVLLALFTCE>M<LVKMYSLGLQAYFVSLFNRFDCFVVCGGIT | 620 |
CACNA1E | VAIVHHNQPQWLTHLLYYAEFLFLGLFLLE>M<SLKMYGMGPRLYFHSSFNCFDFGVTVGSIF | 553 |
CACNA1F | IASEHHGQPVWLTQIQEYANKVLLCLFTVE>M<LLKLYGLGPSAYVSSFFNRFDCFVVCGGIL | 606 |
CACNA1G | MGIEYHEQPEELTNALEISNIVFTSLFALE>M<LLKLLVYGPFGYIKNPYNIFDGVIVVISVW | 820 |
CACNA1H | MGVEYHEQPEELTNALEISNIVFTSMFALE>M<LLKLLACGPLGYIRNPYNIFDGIIVVISVW | 870 |
CACNA1I | MGIEHHEQPEELTNILEICNVVFTSMFALE>M<ILKLAAFGLFDYLRNPYNIFDSIIVIISIW | 717 |
CACNA1S | IASEHHNQPLWLTRLQDIANRVLLSLFTTE>M<LMKMYGLGLRQYFMSIFNRFDCFVVCSGIL | 509 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M764R | c.2291T>G | Inherited Arrhythmia | BrS | rs199473156 | 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.M764T | c.2291T>C | Putative Benign | rs199473156 | SIFT: deleterious Polyphen: benign |