Paralogue Annotation for RYR1 residue 4756

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4756
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4756

No paralogue variants have been mapped to residue 4756 for RYR1.

RYR1	LDKHGDIYGRERIAELLGMDLATLEITAHN>E<R-KPNPPPGLLTWLMSIDVKYQIWKFGVIF	4785
RYR2	MDKYGEFYGRDRISELLGMDKAALDFSDAR>E<KKKPKKDSSLSAVLNSIDVKYQMWKLGVVF	4714
RYR3	INKYGDLYGAERIAELLGLDKNALDFSPVE>E<T-KA-EAASLVSWLSSIDMKYHIWKLGVVF	4617
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4756K	c.14266G>A	Putative Benign		rs375977113	SIFT: tolerated Polyphen: