Paralogue Annotation for RYR1 residue 817

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 817
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 817

No paralogue variants have been mapped to residue 817 for RYR1.

RYR1	KVRFLLGGRHGEFKFLPPPGYAPCHEAVLP>R<ERLHLEPIKEYRREGPRGPHLVGPSRCLSH	847
RYR2	KVRFLLGGRHGEFKFLPPPGYAPCYEAVLP>K<EKLKVEHSREYKQERTYTRDLLGPTVSLTQ	859
RYR3	KVRFLMGGRHGEFKFLPPSGYAPCYEALLP>K<EKMRLEPVKEYKRDADGIRDLLGTTQFLSQ	846
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R817Q	c.2450G>A	Putative Benign			SIFT: Polyphen: