Paralogue Annotation for RYR1 residue 725

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 725
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 725

No paralogue variants have been mapped to residue 725 for RYR1.

RYR1	PGAGEGWGGNGVGDDLYSYGFDGLHLWTGH>V<ARPVTSPGQHLLAPEDVISCCLDLSVPSIS	755
RYR2	PGGGEEWGGNGVGDDLFSYGFDGLHLWSGC>I<ARTVSSPNQHLLRTDDVISCCLDLSAPSIS	767
RYR3	PGGGEGWGGNGVGDDLYSYGFDGLHLWSGR>I<PRAVASINQHLLRSDDVVSCCLDLGVPSIS	754
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V725M	c.2173G>A	Putative Benign		rs200698933	SIFT: Polyphen: probably damaging