Paralogue Annotation for RYR1 residue 2280

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2280
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2280

No paralogue variants have been mapped to residue 2280 for RYR1.

RYR1	HLSYLLENSGIG--L-GMQGSTPLDVAAAS>V<IDNNELALALQEQDLEKVVSYLAGCGLQSC	2310
RYR2	HLSYLLENSSVGLASPAMRGSTPLDVAAAS>V<MDNNELALALREPDLEKVVRYLAGCGLQSC	2277
RYR3	HLSYLLENSSVGLASPSMRGSTPLDVAASS>V<MDNNELALSLEEPDLEKVVTYLAGCGLQSC	2174
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2280I	c.6838G>A	Other Myopathy		rs193922797	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234