Paralogue Annotation for RYR1 residue 3081

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3081
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3081

No paralogue variants have been mapped to residue 3081 for RYR1.

RYR1	RHRVSLFGTDAPAVVNCLHILARSLDARTV>M<KSGPEIVKAGLRSFFESASEDIEKMVENLR	3111
RYR2	RHRISLFGNDATSIVNCLHILGQTLDARTV>M<KTGLESVKSALRAFLDNAAEDLEKTMENLK	3076
RYR3	RHRISLFGSDSTTMVSCLHILAQTLDTRTV>M<KSGSELVKAGLRAFFENAAEDLEKTSENLK	2972
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3081T	c.9242T>C	Conflict		rs147012990	SIFT: Polyphen:
Reports		Other Myopathy		RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		Other Myopathy		Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395
p.M3081V	c.9241A>G	Putative Benign		rs375292503	SIFT: tolerated Polyphen: benign
p.M3081I	c.9243G>A	Putative Benign			SIFT: Polyphen: