Paralogue Annotation for RYR2 residue 2099

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2099
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2099

No paralogue variants have been mapped to residue 2099 for RYR2.

RYR2	WAQESVIEDPELVRAMFVLLHRQYDGIGGL>V<RALPKTYTINGVSVEDTINLLASLGQIRSL	2129
RYR1	WAQEDFVQSPELVRAMFSLLHRQYDGLGEL>L<RALPRAYTISPSSVEDTMSLLECLGQIRSL	2165
RYR3	WAQEDQIQDSELVRMMFNLLRRQYDSIGEL>L<QALRKTYTISHTSVSDTINLLAALGQIRSL	2027
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2099I	c.6295G>A	Putative Benign			SIFT: Polyphen: