Paralogue Annotation for RYR1 residue 182

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 182
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 182

No paralogue variants have been mapped to residue 182 for RYR1.

RYR1	ASKQRSEGEKVRVGDDIILVSVSSERYLHL>S<TASGELQVDASFMQTLWNMNPICSR--CEE	210
RYR2	ASKQRSEGEKVRVGDDLILVSVSSERYLHL>S<YGNGSLHVDAAFQQTLWSVAPISSGSEAAQ	225
RYR3	ASKQRSEGEKVRIGDDLILVSVSSERYLHL>S<VSNGNIQVDASFMQTLWNVHPTCSGSSIEE	215
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S182W	c.545C>G	Putative Benign			SIFT: Polyphen:
p.S182L	c.545C>T	Putative Benign			SIFT: Polyphen: