Paralogue Annotation for RYR1 residue 751

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 751
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 751

No paralogue variants have been mapped to residue 751 for RYR1.

RYR1	WTGHVARPVTSPGQHLLAPEDVISCCLDLS>V<PSISFRINGCPVQGVFESFNLDGLFFPVVS	781
RYR2	WSGCIARTVSSPNQHLLRTDDVISCCLDLS>A<PSISFRINGQPVQGMFENFNIDGLFFPVVS	793
RYR3	WSGRIPRAVASINQHLLRSDDVVSCCLDLG>V<PSISFRINGQPVQGMFENFNTDGLFFPVMS	780
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V751M	c.2251G>A	Putative Benign			SIFT: Polyphen: