Paralogue Annotation for RYR2 residue 2542

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2542
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2542

No paralogue variants have been mapped to residue 2542 for RYR2.



RYR2MALALNRYLCTAVLPLLTRCAPLFAGTEHH>A<SLIDSLLHTVYRLSKGCSLTKAQRDSIEVC2572
RYR1MALALNRYLCLAVLPLITKCAPLFAGTEHR>A<IMVDSMLHTVYRLSRGRSLTKAQRDVIEDC2606
RYR3AALALNRYICSAVLPLLTRCAPLFAGTEHC>T<SLIDSTLQTIYRLSKGRSLTKAQRDTIEEC2469
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2542Sc.7624G>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging
p.A2542Tc.7624G>A Putative BenignSIFT:
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