Paralogue Annotation for RYR1 residue 923

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 923
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 923

No paralogue variants have been mapped to residue 923 for RYR1.

RYR1	GPVRDDNKRLHPCLVDFHSLPEPERNYNLQ>M<SGETLKTLLALGCHVGMADEKAEDNLKKTK	953
RYR2	GPVRDDNKRQHPCLVEFSKLPEQERNYNLQ>M<SLETLKTLLALGCHVGISDEHAEDKVKKMK	965
RYR3	GKIRDDNKRQHPCLVEFSKLPETEKNYNLQ>M<STETLKTLLALGCHIAHVNPAAEEDLKKVK	952
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M923V	c.2767A>G	Putative Benign		rs149913097	SIFT: Polyphen: probably damaging
p.M923I	c.2769G>A	Putative Benign		rs144935444	SIFT: Polyphen: probably damaging