Paralogue Annotation for RYR1 residue 2787

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2787
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2787

No paralogue variants have been mapped to residue 2787 for RYR1.

RYR1	KFAEYTHEKWAFDKIQNNWSYGENIDEELK>T<HPMLRPYKTFSEKDKEIYRWPIKESLKAMI	2817
RYR2	KYAEHSHDKWSMDKLANGWIYGEIYSDSSK>V<QPLMKPYKLLSEKEKEIYRWPIKESLKTML	2783
RYR3	KYAEHSHDKWACDKSQSGWKYGISLDENVK>T<HPLIRPFKTLTEKEKEIYRWPARESLKTML	2680
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2787S	c.8360C>G	Conflict		rs35180584	SIFT: Polyphen:
Reports		Other Myopathy		Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol. 2004 61(1):106-13. 14732627
		Other Myopathy		A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
		Other Myopathy		An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
		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		Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015 43(2):157-66. 25735680