Paralogue Annotation for RYR2 residue 2074

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2074
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2074

No paralogue variants have been mapped to residue 2074 for RYR2.

RYR2	-EKPVESDSKKSSTLQQLISETMVRWAQES>V<IEDPELVRAMFVLLHRQYDGIGGLVRALPK	2104
RYR1	PEEERSAEESKPRSLQELVSHMVVRWAQED>F<VQSPELVRAMFSLLHRQYDGLGELLRALPR	2140
RYR3	-EQPTEEEERCPTTLKELISQTMICWAQED>Q<IQDSELVRMMFNLLRRQYDSIGELLQALRK	2002
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2074F	c.6220G>T	Putative Benign			SIFT: Polyphen: