Paralogue Annotation for RYR1 residue 2304

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2304
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2304

No paralogue variants have been mapped to residue 2304 for RYR1.

RYR1	DVAAASVIDNNELALALQEQDLEKVVSYLA>G<CGLQSCPMLVAKGYPDIGWNPCGGERYLDF	2334
RYR2	DVAAASVMDNNELALALREPDLEKVVRYLA>G<CGLQSCQMLVSKGYPDIGWNPVEGERYLDF	2301
RYR3	DVAASSVMDNNELALSLEEPDLEKVVTYLA>G<CGLQSCPMLLAKGYPDVGWNPIEGERYLSF	2198
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2304S	c.6910G>A	Putative Benign		rs377080876	SIFT: tolerated Polyphen: probably damaging
p.G2304A	c.6911G>C	Putative Benign			SIFT: Polyphen: