No paralogue variants have been mapped to residue 524 for SCN5A.
SCN5A | --------------HLSLTRGLSRTSMKPR>S<SRG--SIF------T--FRR-----R-DLG | 538 |
SCN1A | EGNRLTYEKRYSSPHQSLLSIRGSLFSPRR>N<SRT--SLF------S--FRG---RAK-DVG | 585 |
SCN2A | EGSRLTYEKRFSSPHQSLLSIRGSLFSPRR>N<SRA--SLF------S--FRG---RAK-DIG | 588 |
SCN3A | DGNRLTSDKKFCSPHQSLLSIRGSLFSPRR>N<SKT--SIF------S--FRG---RAK-DVG | 588 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | D-NRIG--RKFSIMNQSLLSIPGSPFLSRH>N<SKS--SIF------S--FRGPG-RFR-DPG | 578 |
SCN9A | EGHRRAHEKRLSTPNQSPLSIRGSLFSARR>S<SRT--SLF------S--FKG---RGR-DIG | 565 |
SCN10A | ----------------RRMSFLGLASGKRR>A<SHG--SVF------H--FRS---PGR-DIS | 515 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<PFDG-ALR------R--TTI---K-K---- | 428 |
CACNA1B | ------------------------------>-<PLDA-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-NRRRG | 449 |
CACNA1G | VH------HHHHHHHHYHL-GNGTLRAPRA>S<PEIQ-DRD------ANGSRRLMLP-P---- | 536 |
CACNA1H | YH------HHHHHHHHYHF-SHGSPRRPGP>E<PGAC-DTR------LVR-----AG-A---- | 555 |
CACNA1I | DE------GRHLGSRHCQT-LHGP------>-<------------------------------ | 512 |
CACNA1S | ------------------------------>-<--------------S--LDE---G-----G | 392 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S524Y | c.1571C>A | Conflict | rs41313691 | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Benign | 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 | ||||
Other Cardiac Phenotype | A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 116(2):430-5. 16453024 | ||||
Other Cardiac Phenotype | Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732 | ||||
Other Cardiac Phenotype | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |