Paralogue Annotation for RYR2 residue 199

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 199
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 199

No paralogue variants have been mapped to residue 199 for RYR2.

RYR2	RSEGEKVRVGDDLILVSVSSERYLHLSYGN>G<SLHVDAAFQQTLWSVAPISSGSEAAQGYLI	229
RYR1	RSEGEKVRVGDDIILVSVSSERYLHLSTAS>G<ELQVDASFMQTLWNMNPICSR--CEEGFVT	214
RYR3	RSEGEKVRIGDDLILVSVSSERYLHLSVSN>G<NIQVDASFMQTLWNVHPTCSGSSIEEGYLL	219
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G199V	c.596G>T	Putative Benign			SIFT: Polyphen:
p.Gly199Ser	c.595G>A	Unknown			SIFT: Polyphen: