Paralogue Annotation for RYR1 residue 2317

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2317
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2317

No paralogue variants have been mapped to residue 2317 for RYR1.

RYR1	ALALQEQDLEKVVSYLAGCGLQSCPMLVAK>G<YPDIGWNPCGGERYLDFLRFAVFVNGESVE	2347
RYR2	ALALREPDLEKVVRYLAGCGLQSCQMLVSK>G<YPDIGWNPVEGERYLDFLRFAVFCNGESVE	2314
RYR3	ALSLEEPDLEKVVTYLAGCGLQSCPMLLAK>G<YPDVGWNPIEGERYLSFLRFAVFVNSESVE	2211
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2317E	c.6950G>A	Putative Benign			SIFT: Polyphen: