Paralogue Annotation for RYR2 residue 817

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 817
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 817

No paralogue variants have been mapped to residue 817 for RYR2.

RYR2	LFFPVVSFSAGIKVRFLLGGRHGEFKFLPP>P<GYAPCYEAVLPKEKLKVEHSREYKQERTYT	847
RYR1	LFFPVVSFSAGVKVRFLLGGRHGEFKFLPP>P<GYAPCHEAVLPRERLHLEPIKEYRREGPRG	835
RYR3	LFFPVMSFSAGVKVRFLMGGRHGEFKFLPP>S<GYAPCYEALLPKEKMRLEPVKEYKRDADGI	834
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P817A	c.2449C>G	Putative Benign			SIFT: Polyphen:
p.P817L	c.2450C>T	Putative Benign			SIFT: Polyphen: