Paralogue Annotation for RYR1 residue 2494

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2494
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2494

No paralogue variants have been mapped to residue 2494 for RYR1.

RYR1	EDLVGIISLPLQIPTLGKDGALVQPKMSAS>F<VPDHKASMVLFLDRVYGIENQDFLLHVLDV	2524
RYR2	GDLVGVISIAFQMPTIAKDGNVVEPDMSAG>F<CPDHKAAMVLFLDRVYGIEVQDFLLHLLEV	2490
RYR3	EDLVGIISIPLKLPSLNKDGSVSEPDMAAN>F<CPDHKAPMVLFLDRVYGIKDQTFLLHLLEV	2387
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2494I	c.7480T>A	Putative Benign			SIFT: Polyphen:
p.F2494L	c.7482C>G	Putative Benign			SIFT: Polyphen: