Paralogue Annotation for RYR2 residue 209

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 209
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 209

No paralogue variants have been mapped to residue 209 for RYR2.

RYR2	DDLILVSVSSERYLHLSYGNGSLHVDAAFQ>Q<TLWSVAPISSGSEAAQGYLIGGDVLRLLHG	239
RYR1	DDIILVSVSSERYLHLSTASGELQVDASFM>Q<TLWNMNPICSR--CEEGFVTGGHVLRLFHG	224
RYR3	DDLILVSVSSERYLHLSVSNGNIQVDASFM>Q<TLWNVHPTCSGSSIEEGYLLGGHVVRLFHG	229
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q209E	c.625C>G	Putative Benign			SIFT: Polyphen: