Paralogue Annotation for RYR1 residue 2102

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2102
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2102

No paralogue variants have been mapped to residue 2102 for RYR1.

RYR1	LVKKKEEKPEEERSAEESKPRSLQELVSHM>V<VRWAQEDFVQSPELVRAMFSLLHRQYDGLG	2132
RYR2	YLKKKQA--EKPVESDSKKSSTLQQLISET>M<VRWAQESVIEDPELVRAMFVLLHRQYDGIG	2096
RYR3	GPPKPEK--EQPTEEEERCPTTLKELISQT>M<ICWAQEDQIQDSELVRMMFNLLRRQYDSIG	1994
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2102L	c.6304G>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. Br J Anaesth. 2013 110(1):122-7. doi: 10.1093/bja/aes341. 23035052
p.V2102L	c.6304G>T	Putative Benign			SIFT: Polyphen: