Paralogue Annotation for RYR1 residue 2587

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2587
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2587

No paralogue variants have been mapped to residue 2587 for RYR1.

RYR1	AVLPLITKCAPLFAGTEHRAIMVDSMLHTV>Y<RLSRGRSLTKAQRDVIEDCLMSLCRYIRPS	2617
RYR2	AVLPLLTRCAPLFAGTEHHASLIDSLLHTV>Y<RLSKGCSLTKAQRDSIEVCLLSICGQLRPS	2583
RYR3	AVLPLLTRCAPLFAGTEHCTSLIDSTLQTI>Y<RLSKGRSLTKAQRDTIEECLLAICNHLRPS	2480
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2587C	c.7760A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145