Paralogue Annotation for RYR1 residue 896

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 896
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 896

No paralogue variants have been mapped to residue 896 for RYR1.

RYR1	LERIREKLAENIHELWALTRIEQGWTYGPV>R<DDNKRLHPCLVDFHSLPEPERNYNLQMSGE	926
RYR2	LERIREKLAENIHELWVMNKIELGWQYGPV>R<DDNKRQHPCLVEFSKLPEQERNYNLQMSLE	938
RYR3	LEKIRDRLAENIHELWGMNKIELGWTFGKI>R<DDNKRQHPCLVEFSKLPETEKNYNLQMSTE	925
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R896Q	c.2687G>A	Putative Benign		rs147515913	SIFT: Polyphen: probably damaging
p.R896W	c.2686C>T	Putative Benign		rs371050482	SIFT: deleterious Polyphen: probably damaging