Paralogue Annotation for RYR2 residue 2075

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2075
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2075

No paralogue variants have been mapped to residue 2075 for RYR2.

RYR2	EKPVESDSKKSSTLQQLISETMVRWAQESV>I<EDPELVRAMFVLLHRQYDGIGGLVRALPKT	2105
RYR1	EEERSAEESKPRSLQELVSHMVVRWAQEDF>V<QSPELVRAMFSLLHRQYDGLGELLRALPRA	2141
RYR3	EQPTEEEERCPTTLKELISQTMICWAQEDQ>I<QDSELVRMMFNLLRRQYDSIGELLQALRKT	2003
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2075T	c.6224T>C	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation. Pediatr Cardiol. 2014 24950728