No paralogue variants have been mapped to residue 752 for SCN5A.
SCN5A | TITMCIVLNTLFMALEHYNMTSEFEEMLQV>G<NLVFTGIFTAEMTFKIIALDPYYYFQQGWN | 782 |
SCN1A | AITICIVLNTLFMAMEHYPMTDHFNNVLTV>G<NLVFTGIFTAEMFLKIIAMDPYYYFQEGWN | 833 |
SCN2A | AITICIVLNTLFMAMEHYPMTEQFSSVLSV>G<NLVFTGIFTAEMFLKIIAMDPYYYFQEGWN | 824 |
SCN3A | AITICIVLNTLFMAMEHYPMTEQFSSVLTV>G<NLVFTGIFTAEMVLKIIAMDPYYYFQEGWN | 825 |
SCN4A | GITICIVLNTLFMAMEHYPMTEHFDNVLTV>G<NLVFTGIFTAEMVLKLIAMDPYEYFQQGWN | 643 |
SCN7A | FLIICIILNVCFLTLEHYPMSKQTNTLLNI>G<NLVFIGIFTAEMIFKIIAMHPYGYFQVGWN | 570 |
SCN8A | AITICIVLNTLFMAMEHHPMTPQFEHVLAV>G<NLVFTGIFTAEMFLKLIAMDPYYYFQEGWN | 818 |
SCN9A | AITICIVLNTLFMAMEHHPMTEEFKNVLAI>G<NLVFTGIFAAEMVLKLIAMDPYEYFQVGWN | 798 |
SCN10A | TITLCIVVNTIFMAMEHHGMSPTFEAMLQI>G<NIVFTIFFTAEMVFKIIAFDPYYYFQKKWN | 730 |
SCN11A | AITICIIINTVFLAMEHHKMEASFEKMLNI>G<NLVFTSIFIAEMCLKIIALDPYHYFRRGWN | 642 |
CACNA1A | TVLSLVALNTLCVAIVHYNQPEWLSDFLYY>A<EFIFLGLFMSEMFIKMYGLGTRPYFHSSFN | 552 |
CACNA1B | VVLCVVALNTLCVAMVHYNQPRRLTTTLYF>A<EFVFLGLFLTEMSLKMYGLGPRSYFRSSFN | 548 |
CACNA1C | LVIFLVFLNTLTIASEHYNQPNWLTEVQDT>A<NKALLALFTAEMLLKMYSLGLQAYFVSLFN | 589 |
CACNA1D | LVIVLVFLNTLTISSEHYNQPDWLTQIQDI>A<NKVLLALFTCEMLVKMYSLGLQAYFVSLFN | 608 |
CACNA1E | IVLSLVALNTACVAIVHHNQPQWLTHLLYY>A<EFLFLGLFLLEMSLKMYGMGPRLYFHSSFN | 541 |
CACNA1F | AVLLLVFLNTLTIASEHHGQPVWLTQIQEY>A<NKVLLCLFTVEMLLKLYGLGPSAYVSSFFN | 594 |
CACNA1G | GIMIAILVNTLSMGIEYHEQPEELTNALEI>S<NIVFTSLFALEMLLKLLVYGPFGYIKNPYN | 808 |
CACNA1H | GIMMAILVNTLSMGVEYHEQPEELTNALEI>S<NIVFTSMFALEMLLKLLACGPLGYIRNPYN | 858 |
CACNA1I | GIMMAILVNTVSMGIEHHEQPEELTNILEI>C<NVVFTSMFALEMILKLAAFGLFDYLRNPYN | 705 |
CACNA1S | LVILIVALNTLSIASEHHNQPLWLTRLQDI>A<NRVLLSLFTTEMLMKMYGLGLRQYFMSIFN | 497 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G752R | c.2254G>A | Inherited Arrhythmia | LQTS,BrS | rs199473153 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | ||
Inherited Arrhythmia | BrS | Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads. J Cardiovasc Electrophysiol. 2003 14(2):200-3. 12693506 | |||
Inherited Arrhythmia | LQTS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 | |||
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 | |||
Cardiomyopathy | DCM | Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch. Heart Rhythm. 2010 7(2):238-48. doi: 10.1016/j.hrthm.2009.10.007. 20022821 | |||
Other Cardiac Phenotype | Fever-induced atrial flutter associated with SCN5A mutation--a first report on successful catheter ablation in a very young child. Int J Cardiol. 2014 171(2):e31-4. doi: 10.1016/j.ijcard.2013.11.121. 24365614 | ||||
Inherited Arrhythmia | BrS | Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations. Circ Arrhythm Electrophysiol. 2015 8(5):1228-39. doi: 10.1161/CIRCEP.115.003155. 26283144 | |||
p.G752E | c.2255G>A | Putative Benign | rs267599789 | SIFT: deleterious Polyphen: possibly damaging |