Paralogue Annotation for RYR1 residue 732

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 732
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 732

No paralogue variants have been mapped to residue 732 for RYR1.

RYR1	GGNGVGDDLYSYGFDGLHLWTGHVARPVTS>P<GQHLLAPEDVISCCLDLSVPSISFRINGCP	762
RYR2	GGNGVGDDLFSYGFDGLHLWSGCIARTVSS>P<NQHLLRTDDVISCCLDLSAPSISFRINGQP	774
RYR3	GGNGVGDDLYSYGFDGLHLWSGRIPRAVAS>I<NQHLLRSDDVVSCCLDLGVPSISFRINGQP	761
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P732L	c.2195C>T	Putative Benign		rs141444525	SIFT: Polyphen: probably damaging