Paralogue Annotation for RYR1 residue 885

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 885
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 885

No paralogue variants have been mapped to residue 885 for RYR1.

RYR1	VDTVQIVLPPHLERIREKLAENIHELWALT>R<IEQGWTYGPVRDDNKRLHPCLVDFHSLPEP	915
RYR2	VDTSQIVLPPHLERIREKLAENIHELWVMN>K<IELGWQYGPVRDDNKRQHPCLVEFSKLPEQ	927
RYR3	VDTSQVILPPHLEKIRDRLAENIHELWGMN>K<IELGWTFGKIRDDNKRQHPCLVEFSKLPET	914
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R885H	c.2654G>A	Other Myopathy		rs370634440	SIFT: deleterious Polyphen: probably damaging
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
p.R885C	c.2653C>T	Putative Benign			SIFT: Polyphen:
p.R885L	c.2654G>T	Putative Benign			SIFT: Polyphen: