No paralogue variants have been mapped to residue 523 for SCN5A.
SCN5A | ---------------HLSLTRGLSRTSMKP>R<SSRG--SIF------T--FRR-----R-DL | 537 |
SCN1A | IEGNRLTYEKRYSSPHQSLLSIRGSLFSPR>R<NSRT--SLF------S--FRG---RAK-DV | 584 |
SCN2A | LEGSRLTYEKRFSSPHQSLLSIRGSLFSPR>R<NSRA--SLF------S--FRG---RAK-DI | 587 |
SCN3A | MDGNRLTSDKKFCSPHQSLLSIRGSLFSPR>R<NSKT--SIF------S--FRG---RAK-DV | 587 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | -D-NRIG--RKFSIMNQSLLSIPGSPFLSR>H<NSKS--SIF------S--FRGPG-RFR-DP | 577 |
SCN9A | VEGHRRAHEKRLSTPNQSPLSIRGSLFSAR>R<SSRT--SLF------S--FKG---RGR-DI | 564 |
SCN10A | -----------------RRMSFLGLASGKR>R<ASHG--SVF------H--FRS---PGR-DI | 514 |
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-NRRR | 448 |
CACNA1G | LVH------HHHHHHHHYHL-GNGTLRAPR>A<SPEIQ-DRD------ANGSRRLMLP-P--- | 536 |
CACNA1H | VYH------HHHHHHHHYHF-SHGSPRRPG>P<EPGAC-DTR------LVR-----AG-A--- | 555 |
CACNA1I | GDE------GRHLGSRHCQT-LHGP----->-<------------------------------ | 512 |
CACNA1S | ------------------------------>-<---------------S--LDE---G----- | 391 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R523C | c.1567C>T | Inherited Arrhythmia | LQTS | rs199473119 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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.R523H | c.1568G>A | Putative Benign | rs199533947 | SIFT: tolerated Polyphen: benign |