Paralogue Annotation for RYR1 residue 2266

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2266
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2266

No paralogue variants have been mapped to residue 2266 for RYR1.

RYR1	FCRISRQNQRSMFDHLSYLLENSGIG--L->G<MQGSTPLDVAAASVIDNNELALALQEQDLE	2296
RYR2	FCRISRQNQKAMFDHLSYLLENSSVGLASP>A<MRGSTPLDVAAASVMDNNELALALREPDLE	2263
RYR3	FCRISRQNQKAMFEHLSYLLENSSVGLASP>S<MRGSTPLDVAASSVMDNNELALSLEEPDLE	2160
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2266R	c.6796G>C	Putative Benign			SIFT: Polyphen:
p.G2266C	c.6796G>T	Putative Benign			SIFT: Polyphen:
p.G2266A	c.6797G>C	Putative Benign			SIFT: Polyphen: