Paralogue Annotation for RYR1 residue 803

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 803
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 803

No paralogue variants have been mapped to residue 803 for RYR1.

RYR1	DGLFFPVVSFSAGVKVRFLLGGRHGEFKFL>P<PPGYAPCHEAVLPRERLHLEPIKEYRREGP	833
RYR2	DGLFFPVVSFSAGIKVRFLLGGRHGEFKFL>P<PPGYAPCYEAVLPKEKLKVEHSREYKQERT	845
RYR3	DGLFFPVMSFSAGVKVRFLMGGRHGEFKFL>P<PSGYAPCYEALLPKEKMRLEPVKEYKRDAD	832
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P803S	c.2407C>T	Putative Benign		rs373585562	SIFT: deleterious Polyphen: probably damaging