Paralogue Annotation for RYR1 residue 2480

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2480
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2480

No paralogue variants have been mapped to residue 2480 for RYR1.

RYR1	ALRIRAILRSLVPLEDLVGIISLPLQIPTL>G<KDGALVQPKMSASFVPDHKASMVLFLDRVY	2510
RYR2	AIRIRSILRSLIPLGDLVGVISIAFQMPTI>A<KDGNVVEPDMSAGFCPDHKAAMVLFLDRVY	2476
RYR3	AIRIRSILRSLVPTEDLVGIISIPLKLPSL>N<KDGSVSEPDMAANFCPDHKAPMVLFLDRVY	2373
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2480S	c.7438G>A	Putative Benign			SIFT: Polyphen: