Paralogue Annotation for RYR1 residue 4757

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4757
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4757

No paralogue variants have been mapped to residue 4757 for RYR1.

RYR1	DKHGDIYGRERIAELLGMDLATLEITAHNE>R<-KPNPPPGLLTWLMSIDVKYQIWKFGVIFT	4786
RYR2	DKYGEFYGRDRISELLGMDKAALDFSDARE>K<KKPKKDSSLSAVLNSIDVKYQMWKLGVVFT	4715
RYR3	NKYGDLYGAERIAELLGLDKNALDFSPVEE>T<-KA-EAASLVSWLSSIDMKYHIWKLGVVFT	4618
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4757C	c.14269C>T	Putative Benign		rs369132009	SIFT: deleterious Polyphen:
p.R4757H	c.14270G>A	Putative Benign			SIFT: Polyphen: