Paralogue Annotation for RYR1 residue 2239

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2239
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2239

No paralogue variants have been mapped to residue 2239 for RYR1.

RYR1	EVMVNVLGGGESKEIRFPKMVTSCCRFLCY>F<CRISRQNQRSMFDHLSYLLENSGIG--L-G	2266
RYR2	EVMVNVLGGGESKEITFPKMVANCCRFLCY>F<CRISRQNQKAMFDHLSYLLENSSVGLASPA	2233
RYR3	EVMVNVLGT-EKSQIAFPKMVASCCRFLCY>F<CRISRQNQKAMFEHLSYLLENSSVGLASPS	2130
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2239L	c.6717C>G	Putative Benign			SIFT: Polyphen: