Paralogue Annotation for RYR2 residue 2812

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2812
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2812

No paralogue variants have been mapped to residue 2812 for RYR2.



RYR2MLAWGWRIERTREGDSMALYNRTRRISQTS>Q<V--SVDAAHGYSPRAIDMSNVTLSRDLHAM2840
RYR1MIAWEWTIEKAREGEEEK--TEKKKTRKIS>Q<SAQTYDPREGYNPQPPDLSAVTLSRELQAM2874
RYR3MLAVGWTVERTKEGEALVQQRENEKLRSVS>Q<A--NQ--GNSYSPAPLDLSNVVLSRELQGM2735
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q2812Ec.8434C>G Putative Benignrs377285717SIFT: tolerated
Polyphen: benign