Paralogue Annotation for RYR1 residue 2269

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2269
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2269

No paralogue variants have been mapped to residue 2269 for RYR1.

RYR1	ISRQNQRSMFDHLSYLLENSGIG--L-GMQ>G<STPLDVAAASVIDNNELALALQEQDLEKVV	2299
RYR2	ISRQNQKAMFDHLSYLLENSSVGLASPAMR>G<STPLDVAAASVMDNNELALALREPDLEKVV	2266
RYR3	ISRQNQKAMFEHLSYLLENSSVGLASPSMR>G<STPLDVAASSVMDNNELALSLEEPDLEKVV	2163
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2269S	c.6805G>A	Putative Benign			SIFT: Polyphen: