Paralogue Annotation for RYR1 residue 4723

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4723
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4723

No paralogue variants have been mapped to residue 4723 for RYR1.

RYR1	PEDDDVKGQWDRLVLNTPSFPSNYWDKFVK>R<KVLDKHGDIYGRERIAELLGMDLATLEITA	4753
RYR2	PSEDDIKGQWDRLVINTQSFPNNYWDKFVK>R<KVMDKYGEFYGRDRISELLGMDKAALDFSD	4681
RYR3	PSEDDIKGQWDRLVINTPSFPNNYWDKFVK>R<KVINKYGDLYGAERIAELLGLDKNALDFSP	4586
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4723C	c.14167C>T	Putative Benign		rs200473035	SIFT: Polyphen:
p.R4723H	c.14168G>A	Putative Benign		rs200766617	SIFT: Polyphen:
p.R4723S	c.14167C>A	Putative Benign			SIFT: Polyphen: