Paralogue Annotation for RYR1 residue 938

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 938
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 938

No paralogue variants have been mapped to residue 938 for RYR1.

RYR1	DFHSLPEPERNYNLQMSGETLKTLLALGCH>V<GMADEKAEDNLKKTKLPKTYMMSNGYKPAP	968
RYR2	EFSKLPEQERNYNLQMSLETLKTLLALGCH>V<GISDEHAEDKVKKMKLPKNYQLTSGYKPAP	980
RYR3	EFSKLPETEKNYNLQMSTETLKTLLALGCH>I<AHVNPAAEEDLKKVKLPKNYMMSNGYKPAP	967
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V938M	c.2812G>A	Putative Benign		rs369182023	SIFT: deleterious Polyphen: probably damaging