Paralogue Annotation for RYR1 residue 2267

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2267
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2267

No paralogue variants have been mapped to residue 2267 for RYR1.

RYR1	CRISRQNQRSMFDHLSYLLENSGIG--L-G>M<QGSTPLDVAAASVIDNNELALALQEQDLEK	2297
RYR2	CRISRQNQKAMFDHLSYLLENSSVGLASPA>M<RGSTPLDVAAASVMDNNELALALREPDLEK	2264
RYR3	CRISRQNQKAMFEHLSYLLENSSVGLASPS>M<RGSTPLDVAASSVMDNNELALSLEEPDLEK	2161
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Met2267Val	c.6799A>G	Unknown			SIFT: Polyphen: