Paralogue Annotation for RYR1 residue 2289

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2289
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2289

No paralogue variants have been mapped to residue 2289 for RYR1.

RYR1	GIG--L-GMQGSTPLDVAAASVIDNNELAL>A<LQEQDLEKVVSYLAGCGLQSCPMLVAKGYP	2319
RYR2	SVGLASPAMRGSTPLDVAAASVMDNNELAL>A<LREPDLEKVVRYLAGCGLQSCQMLVSKGYP	2286
RYR3	SVGLASPSMRGSTPLDVAASSVMDNNELAL>S<LEEPDLEKVVTYLAGCGLQSCPMLLAKGYP	2183
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2289E	c.6866C>A	Putative Benign			SIFT: Polyphen: