Paralogue Annotation for RYR1 residue 2242

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2242
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2242

No paralogue variants have been mapped to residue 2242 for RYR1.

RYR1	VNVLGGGESKEIRFPKMVTSCCRFLCYFCR>I<SRQNQRSMFDHLSYLLENSGIG--L-GMQG	2269
RYR2	VNVLGGGESKEITFPKMVANCCRFLCYFCR>I<SRQNQKAMFDHLSYLLENSSVGLASPAMRG	2236
RYR3	VNVLGT-EKSQIAFPKMVASCCRFLCYFCR>I<SRQNQKAMFEHLSYLLENSSVGLASPSMRG	2133
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2242M	c.6726C>G	Putative Benign			SIFT: Polyphen: