Paralogue Annotation for RYR1 residue 3647

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3647
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3647

No paralogue variants have been mapped to residue 3647 for RYR1.

RYR1	KAVWHKLLSKQRRRAVVACFRMTPLYNLPT>H<RACNMFLESYKAAWILTEDHSFEDRMIDDL	3677
RYR2	KAVWHKLLSKQRKRAVVACFRMAPLYNLPR>H<RAVNLFLQGYEKSWIETEEHYFEDKLIEDL	3644
RYR3	KAVWHKLLSKQRKRAVVACFRMAPLYNLPR>H<RSINLFLHGYQRFWIETEEYSFEEKLVQDL	3532
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3647Q	c.10941C>G	Benign		rs114351116	SIFT: Polyphen: benign