Paralogue Annotation for RYR1 residue 3709

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3709
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3709

No paralogue variants have been mapped to residue 3709 for RYR1.

RYR1	KAGEQEEEEEEVEEKKPDPLHQLVLHFSRT>A<LTEKSKLDEDYLYMAYADIMAKSCHLEEGG	3739
RYR2	KPG-AEPPEEDEGTKRVDPLHQLILLFSRT>A<LTEKCKLEEDFLYMAYADIMAKSCHDEED-	3704
RYR3	KSPKVEEEEEEETEKQPDPLHQIILYFSRN>A<LTERSKLEDDPLYTSYSSMMAKSCQSGED-	3593
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3709V	c.11126C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348