Paralogue Annotation for SCN5A residue 535

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 535
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 535

No paralogue variants have been mapped to residue 535 for SCN5A.



SCN5AMKPRSSRG--SIF------T--FRR----->R<-DLG-----SEA-------DFADDENSTAG552
SCN1ASPRRNSRT--SLF------S--FRG---RA>K<-DVG-----SEN-------DFADDEHSTFE599
SCN2ASPRRNSRA--SLF------S--FRG---RA>K<-DIG-----SEN-------DFADDEHSTFE602
SCN3ASPRRNSKT--SIF------S--FRG---RA>K<-DVG-----SEN-------DFADDEHSTFE602
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ALSRHNSKS--SIF------S--FRGPG-RF>R<-DPG-----SEN-------EFADDEHSTVE592
SCN9ASARRSSRT--SLF------S--FKG---RG>R<-DIG-----SET-------EFADDEHSIFG579
SCN10AGKRRASHG--SVF------H--FRS---PG>R<-DIS-----LPE-------GVTDDG-VFPG528
SCN11A------------------------------>-<------------------------------
CACNA1A-----PFDG-ALR------R--TTI---K->K<---------SKT------------------431
CACNA1B-----PLDA-VLK------R--AAT---K->K<---------SRN------------------427
CACNA1C--------EEKPR------N--MSM---P->-<---T-----SET------------------471
CACNA1D--------E-GKR------N--TSM---P->-<---T-----SET------------------471
CACNA1E-----L--E-VLR------R--ATI---K->R<---------SRT------------------420
CACNA1F--------E-G-RAGHRPQL--AEL---T->N<RRRGRLRWFSHS------------------457
CACNA1GAPRASPEIQ-DRD------ANGSRRLMLP->P<---------PS-TPALSGAPPGGAESVHSF556
CACNA1HRPGPEPGAC-DTR------LVR-----AG->A<---------PPSPPSPGRGPPD-AESVHSI575
CACNA1I------------------------------>-<----------A--------SPGNDHSGREL524
CACNA1S-------------------S--LDE---G->-<---G-----SDT------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R535Qc.1604G>A Inherited ArrhythmiaLQTSrs199473121SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients. PLoS One. 2013 8(12):e83005. doi: 10.1371/journal.pone.0083005. e 24349418