Paralogue Annotation for RYR1 residue 485

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 485
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 485

No paralogue variants have been mapped to residue 485 for RYR1.

RYR1	SEDLQHEEKQSKLRSLRNRQSLFQEEGMLS>M<VLNCIDRLNVYTTAAHFAEFAGEEAAESWK	515
RYR2	DEHLEHEDKQNRLRALKNRQNLFQEEGMIN>L<VLECIDRLHVYSSAAHFADVAGREAGESWK	527
RYR3	EEEMRHEDKQNKLRSLKNRQNLFKEEGMLA>L<VLNCIDRLNVYNSVAHFAGIAREESGMAWK	514
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M485V	c.1453A>G	Other Myopathy		rs147723844	SIFT: Polyphen:
Reports		Other Myopathy		RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		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
		Other Myopathy		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594