Paralogue Annotation for RYR1 residue 2117

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2117
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2117

No paralogue variants have been mapped to residue 2117 for RYR1.

RYR1	EESKPRSLQELVSHMVVRWAQEDFVQSPEL>V<RAMFSLLHRQYDGLGELLRALPRAYTISPS	2147
RYR2	DSKKSSTLQQLISETMVRWAQESVIEDPEL>V<RAMFVLLHRQYDGIGGLVRALPKTYTINGV	2111
RYR3	EERCPTTLKELISQTMICWAQEDQIQDSEL>V<RMMFNLLRRQYDSIGELLQALRKTYTISHT	2009
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2117L	c.6349G>C	Other Myopathy		rs193922788	SIFT: Polyphen:
Reports		Other Myopathy		Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem. 2003 49(5):761-8. 12709367