Paralogue Annotation for RYR1 residue 186

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 186
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 186

No paralogue variants have been mapped to residue 186 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G186R	c.556G>A	Putative Benign			SIFT: Polyphen:
p.G186E	c.557G>A	Putative Benign			SIFT: Polyphen: