Paralogue Annotation for SCN5A residue 523

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 523
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 523

No paralogue variants have been mapped to residue 523 for SCN5A.



SCN5A---------------HLSLTRGLSRTSMKP>R<SSRG--SIF------T--FRR-----R-DL537
SCN1AIEGNRLTYEKRYSSPHQSLLSIRGSLFSPR>R<NSRT--SLF------S--FRG---RAK-DV584
SCN2ALEGSRLTYEKRFSSPHQSLLSIRGSLFSPR>R<NSRA--SLF------S--FRG---RAK-DI587
SCN3AMDGNRLTSDKKFCSPHQSLLSIRGSLFSPR>R<NSKT--SIF------S--FRG---RAK-DV587
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A-D-NRIG--RKFSIMNQSLLSIPGSPFLSR>H<NSKS--SIF------S--FRGPG-RFR-DP577
SCN9AVEGHRRAHEKRLSTPNQSPLSIRGSLFSAR>R<SSRT--SLF------S--FKG---RGR-DI564
SCN10A-----------------RRMSFLGLASGKR>R<ASHG--SVF------H--FRS---PGR-DI514
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<-PFDG-ALR------R--TTI---K-K---428
CACNA1B------------------------------>-<-PLDA-VLK------R--AAT---K-K---424
CACNA1C------------------------------>-<----EEKPR------N--MSM---P-----467
CACNA1D------------------------------>-<----E-GKR------N--TSM---P-----467
CACNA1E------------------------------>-<-L--E-VLR------R--ATI---K-R---417
CACNA1F------------------------------>-<----E-G-RAGHRPQL--AEL---T-NRRR448
CACNA1GLVH------HHHHHHHHYHL-GNGTLRAPR>A<SPEIQ-DRD------ANGSRRLMLP-P---536
CACNA1HVYH------HHHHHHHHYHF-SHGSPRRPG>P<EPGAC-DTR------LVR-----AG-A---555
CACNA1IGDE------GRHLGSRHCQT-LHGP----->-<------------------------------512
CACNA1S------------------------------>-<---------------S--LDE---G-----391
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R523Cc.1567C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142
Other Disease Phenotype New SCN5A mutation in a SUDEP victim with idiopathic epilepsy. Seizure. 2009 18(2):158-60. 18752973
p.R523Hc.1568G>A Putative BenignSIFT: tolerated
Polyphen: benign