Paralogue Annotation for RYR1 residue 2772

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2772
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2772

No paralogue variants have been mapped to residue 2772 for RYR1.

RYR1	TLNVIIPEKLDSFINKFAEYTHEKWAFDKI>Q<NNWSYGENIDEELKTHPMLRPYKTFSEKDK	2802
RYR2	TSNITIPEKLEYFINKYAEHSHDKWSMDKL>A<NGWIYGEIYSDSSKVQPLMKPYKLLSEKEK	2768
RYR3	TMNFSLPEKLEYIVTKYAEHSHDKWACDKS>Q<SGWKYGISLDENVKTHPLIRPFKTLTEKEK	2665
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q2772R	c.8315A>G	Putative Benign			SIFT: Polyphen: