Paralogue Annotation for RYR2 residue 2758

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2758
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2758

No paralogue variants have been mapped to residue 2758 for RYR2.



RYR2SHDKWSMDKLANGWIYGEIYSDSSKVQPLM>K<PYKLLSEKEKEIYRWPIKESLKTMLAWGWR2788
RYR1THEKWAFDKIQNNWSYGENIDEELKTHPML>R<PYKTFSEKDKEIYRWPIKESLKAMIAWEWT2822
RYR3SHDKWACDKSQSGWKYGISLDENVKTHPLI>R<PFKTLTEKEKEIYRWPARESLKTMLAVGWT2685
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K2758Rc.8273A>G Putative Benignrs200053476SIFT: tolerated
Polyphen: benign
p.K2758Nc.8274G>T UnknownSIFT:
Polyphen:
ReportsUnknown 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