Paralogue Annotation for RYR1 residue 4512

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4512
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4512

No paralogue variants have been mapped to residue 4512 for RYR1.

RYR1	GVEEELPPEPEPEPEPELEPEKADAENGEK>E<EVPEPTPEPPKKQ---------APPSPPPK	4533
RYR2	KA---KEEEKEEKEETKSEPEKAEGEDGEK>E<EKAKEDKGKQKLR--------QLHTHRYGE	4472
RYR3	QA---AEMKAANEAEGKVESEKADMEDGEK>E<DKDKEEEQAEYLWTEVTKKKKRRCGQKVEK	4383
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4512G	c.13535A>G	Putative Benign			SIFT: Polyphen: