Paralogue Annotation for RYR1 residue 901

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 901
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 901

No paralogue variants have been mapped to residue 901 for RYR1.

RYR1	EKLAENIHELWALTRIEQGWTYGPVRDDNK>R<LHPCLVDFHSLPEPERNYNLQMSGETLKTL	931
RYR2	EKLAENIHELWVMNKIELGWQYGPVRDDNK>R<QHPCLVEFSKLPEQERNYNLQMSLETLKTL	943
RYR3	DRLAENIHELWGMNKIELGWTFGKIRDDNK>R<QHPCLVEFSKLPETEKNYNLQMSTETLKTL	930
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R901G	c.2701A>G	Putative Benign		rs374492243	SIFT: deleterious Polyphen: possibly damaging