Paralogue Annotation for RYR1 residue 22

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 22
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 22

No paralogue variants have been mapped to residue 22 for RYR1.

RYR1	MGD-AE-GEDEVQFLRTDDEVVL>Q<CSATVLKEQLKLCLAAEGFGNRLCFLEPTS	52
RYR2	MADGGE-GEDEIQFLRTDDEVVL>Q<CTATIHKEQQKLCLAAEGFGNRLCFLESTS	53
RYR3	MAEGGEGGEDEIQFLRTEDEVVL>Q<CIATIHKEQRKFCLAAEGLGNRLCFLEPTS	54
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q22H	c.66G>C	Putative Benign			SIFT: Polyphen: