Paralogue Annotation for RYR2 residue 208

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 208
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 208

No paralogue variants have been mapped to residue 208 for RYR2.

RYR2	GDDLILVSVSSERYLHLSYGNGSLHVDAAF>Q<QTLWSVAPISSGSEAAQGYLIGGDVLRLLH	238
RYR1	GDDIILVSVSSERYLHLSTASGELQVDASF>M<QTLWNMNPICSR--CEEGFVTGGHVLRLFH	223
RYR3	GDDLILVSVSSERYLHLSVSNGNIQVDASF>M<QTLWNVHPTCSGSSIEEGYLLGGHVVRLFH	228
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q208R	c.623A>G	Putative Benign			SIFT: Polyphen: