Paralogue Annotation for RYR1 residue 492

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 492
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 492

No paralogue variants have been mapped to residue 492 for RYR1.

RYR1	EKQSKLRSLRNRQSLFQEEGMLSMVLNCID>R<LNVYTTAAHFAEFAGEEAAESWKEIVNLLY	522
RYR2	DKQNRLRALKNRQNLFQEEGMINLVLECID>R<LHVYSSAAHFADVAGREAGESWKSILNSLY	534
RYR3	DKQNKLRSLKNRQNLFKEEGMLALVLNCID>R<LNVYNSVAHFAGIAREESGMAWKEILNLLY	521
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R492C	c.1474C>T	Putative Benign		rs199826952	SIFT: Polyphen: probably damaging
p.R492G	c.1474C>G	Putative Benign			SIFT: Polyphen:
p.R492H	c.1475G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027