Paralogue Annotation for RYR1 residue 2902

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2902
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2902

No paralogue variants have been mapped to residue 2902 for RYR1.

RYR1	QAMAEQLAENYHNTWGRKKKQELEAKGGGT>H<PLLVPYDTLTAKEKARDREKAQELLKFLQM	2932
RYR2	HAMAEMMAENYHNIWAKKKKMELESKGGGN>H<PLLVPYDTLTAKEKAKDREKAQDILKFLQI	2898
RYR3	QGMVEVVAENYHNIWAKKKKLELESKGGGS>H<PLLVPYDTLTAKEKFKDREKAQDLFKFLQV	2793
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2902Q	c.8706C>A	Putative Benign			SIFT: Polyphen: