Paralogue Annotation for RYR2 residue 2233

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2233
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2233

No paralogue variants have been mapped to residue 2233 for RYR2.

RYR2	FCRISRQNQKAMFDHLSYLLENSSVGLASP>A<MRGSTPLDVAAASVMDNNELALALREPDLE	2263
RYR1	FCRISRQNQRSMFDHLSYLLENSGIG--L->G<MQGSTPLDVAAASVIDNNELALALQEQDLE	2296
RYR3	FCRISRQNQKAMFEHLSYLLENSSVGLASP>S<MRGSTPLDVAASSVMDNNELALSLEEPDLE	2160
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2233G	c.6698C>G	Putative Benign			SIFT: Polyphen: