Paralogue Annotation for RYR2 residue 3187

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3187
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3187

No paralogue variants have been mapped to residue 3187 for RYR2.



RYR2ECLAAFAGAFPVAFLETHLDKHNIYSIYNT>K<SSRERAALSLPTNVEDVCPNIPSLEKLMEE3217
RYR1ECLARLAAAMPVAFLEPQLNEYNACSVYTT>K<SPRERAILGLPNSVEEMCPDIPVLERLMAD3252
RYR3ECLASLAAAIPVAFLEPTLNRYNPLSVFNT>K<TPRERSILGMPDTVEDMCPDIPQLEGLMKE3113
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K3187Rc.9560A>G Benignrs184218219SIFT: tolerated
Polyphen: probably damaging
ReportsBenign The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510