Paralogue Annotation for RYR2 residue 815

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 815
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 815

No paralogue variants have been mapped to residue 815 for RYR2.

RYR2	DGLFFPVVSFSAGIKVRFLLGGRHGEFKFL>P<PPGYAPCYEAVLPKEKLKVEHSREYKQERT	845
RYR1	DGLFFPVVSFSAGVKVRFLLGGRHGEFKFL>P<PPGYAPCHEAVLPRERLHLEPIKEYRREGP	833
RYR3	DGLFFPVMSFSAGVKVRFLMGGRHGEFKFL>P<PSGYAPCYEALLPKEKMRLEPVKEYKRDAD	832
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P815S	c.2443C>T	Putative Benign			SIFT: Polyphen:
p.Pro815Leu	c.2444C>T	Unknown			SIFT: Polyphen: