Paralogue Annotation for RYR1 residue 752

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 752
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 752

No paralogue variants have been mapped to residue 752 for RYR1.

RYR1	TGHVARPVTSPGQHLLAPEDVISCCLDLSV>P<SISFRINGCPVQGVFESFNLDGLFFPVVSF	782
RYR2	SGCIARTVSSPNQHLLRTDDVISCCLDLSA>P<SISFRINGQPVQGMFENFNIDGLFFPVVSF	794
RYR3	SGRIPRAVASINQHLLRSDDVVSCCLDLGV>P<SISFRINGQPVQGMFENFNTDGLFFPVMSF	781
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P752L	c.2255C>T	Putative Benign		rs201229451	SIFT: Polyphen: probably damaging