Paralogue Annotation for RYR1 residue 2900

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2900
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2900

No paralogue variants have been mapped to residue 2900 for RYR1.

RYR1	ELQAMAEQLAENYHNTWGRKKKQELEAKGG>G<THPLLVPYDTLTAKEKARDREKAQELLKFL	2930
RYR2	DLHAMAEMMAENYHNIWAKKKKMELESKGG>G<NHPLLVPYDTLTAKEKAKDREKAQDILKFL	2896
RYR3	ELQGMVEVVAENYHNIWAKKKKLELESKGG>G<SHPLLVPYDTLTAKEKFKDREKAQDLFKFL	2791
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2900A	c.8699G>C	Putative Benign			SIFT: Polyphen: