Paralogue Annotation for RYR1 residue 530

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 530
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 530

No paralogue variants have been mapped to residue 530 for RYR1.

RYR1	AHFAEFAGEEAAESWKEIVNLLYELLASLI>R<GNRSNCALFSTNLDWLVSKLDRLEASSGIL	560
RYR2	AHFADVAGREAGESWKSILNSLYELLAALI>R<GNRKNCAQFSGSLDWLISRLERLEASSGIL	572
RYR3	AHFAGIAREESGMAWKEILNLLYKLLAALI>R<GNRNNCAQFSNNLDWLISKLDRLESSSGIL	559
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R530H	c.1589G>A	Other Myopathy		rs111888148	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
		Other Myopathy		Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.R530C	c.1588C>T	Putative Benign			SIFT: Polyphen:
p.Arg530Leu	c.1589G>T	Unknown			SIFT: Polyphen: