No paralogue variants have been mapped to residue 526 for SCN5A.
| SCN5A | ------------HLSLTRGLSRTSMKPRSS>R<G--SIF------T--FRR-----R-DLG-- | 538 |
| SCN1A | NRLTYEKRYSSPHQSLLSIRGSLFSPRRNS>R<T--SLF------S--FRG---RAK-DVG-- | 585 |
| SCN2A | SRLTYEKRFSSPHQSLLSIRGSLFSPRRNS>R<A--SLF------S--FRG---RAK-DIG-- | 588 |
| SCN3A | NRLTSDKKFCSPHQSLLSIRGSLFSPRRNS>K<T--SIF------S--FRG---RAK-DVG-- | 588 |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | NRIG--RKFSIMNQSLLSIPGSPFLSRHNS>K<S--SIF------S--FRGPG-RFR-DPG-- | 578 |
| SCN9A | HRRAHEKRLSTPNQSPLSIRGSLFSARRSS>R<T--SLF------S--FKG---RGR-DIG-- | 565 |
| SCN10A | --------------RRMSFLGLASGKRRAS>H<G--SVF------H--FRS---PGR-DIS-- | 515 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | -----------------------------P>F<DG-ALR------R--TTI---K-K------ | 428 |
| CACNA1B | -----------------------------P>L<DA-VLK------R--AAT---K-K------ | 424 |
| CACNA1C | ------------------------------>-<-EEKPR------N--MSM---P-----T-- | 468 |
| CACNA1D | ------------------------------>-<-E-GKR------N--TSM---P-----T-- | 468 |
| CACNA1E | -----------------------------L>-<-E-VLR------R--ATI---K-R------ | 417 |
| CACNA1F | ------------------------------>-<-E-G-RAGHRPQL--AEL---T-NRRRGRL | 451 |
| CACNA1G | ------HHHHHHHHYHL-GNGTLRAPRASP>E<IQ-DRD------ANGSRRLMLP-P------ | 536 |
| CACNA1H | ------HHHHHHHHYHF-SHGSPRRPGPEP>G<AC-DTR------LVR-----AG-A------ | 555 |
| CACNA1I | ------GRHLGSRHCQT-LHGP-------->-<------------------------------ | 512 |
| CACNA1S | ------------------------------>-<------------S--LDE---G-----G-- | 392 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R526H | c.1577G>A | Inherited Arrhythmia | BrS | rs45627438 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Unknown | Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6. 19412328 | ||||
| Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||
| Inherited Arrhythmia | BrS | A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents. Circ Cardiovasc Genet. 2014 7(3):249-56. doi: 10.1161/CIRCGENETICS.113.000480. 24795344 | |||
| p.R526C | c.1576C>T | Putative Benign | SIFT: deleterious Polyphen: benign | ||