Paralogue Annotation for RYR1 residue 997

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 997
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 997

No paralogue variants have been mapped to residue 997 for RYR1.

RYR1	APLDLSHVRLTPAQTTLVDRLAENGHNVWA>R<DRVGQGWSYSAVQDIPARRNPRLVPYRLLD	1027
RYR2	APMDLSFIKLTPSQEAMVDKLAENAHNVWA>R<DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD	1039
RYR3	APLDLSDVKLLPPQEILVDKLAENAHNVWA>K<DRIKQGWTYGIQQDLKNKRNPRLVPYALLD	1026
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R997Q	c.2990G>A	Putative Benign			SIFT: Polyphen: