Paralogue Annotation for RYR1 residue 166

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 166
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 166

No paralogue variants have been mapped to residue 166 for RYR1.

RYR1	LQEDATGEACWWTMHPASKQRSEGEKVRVG>D<DIILVSVSSERYLHLSTASGELQVDASFMQ	196
RYR2	LQEDTTGEACWWTIHPASKQRSEGEKVRVG>D<DLILVSVSSERYLHLSYGNGSLHVDAAFQQ	209
RYR3	LREHATGEACWWTIHPASKQRSEGEKVRIG>D<DLILVSVSSERYLHLSVSNGNIQVDASFMQ	199
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D166G	c.497A>G	Other Myopathy		rs193922756	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.D166N	c.496G>A	Other Myopathy		rs193922755	SIFT: Polyphen:
Reports		Other Myopathy		Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 46(6):692-8. 12059893