Paralogue Annotation for RYR1 residue 177

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 177
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 177

No paralogue variants have been mapped to residue 177 for RYR1.

RYR1	WTMHPASKQRSEGEKVRVGDDIILVSVSSE>R<YLHLSTASGELQVDASFMQTLWNMNPICSR	207
RYR2	WTIHPASKQRSEGEKVRVGDDLILVSVSSE>R<YLHLSYGNGSLHVDAAFQQTLWSVAPISSG	220
RYR3	WTIHPASKQRSEGEKVRIGDDLILVSVSSE>R<YLHLSVSNGNIQVDASFMQTLWNVHPTCSG	210
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R177C	c.529C>T	Other Myopathy		rs193922757	SIFT: Polyphen:
Reports		Other Myopathy		Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667
		Other Myopathy		Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop. Proc Natl Acad Sci U S A. 2009 106(27):11040-4. doi: 10.1073/pnas.0905186106. 19541610
		Other Myopathy		Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
p.R177H	c.530G>A	Putative Benign			SIFT: Polyphen: