Paralogue Annotation for RYR2 residue 857

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 857
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 857

No paralogue variants have been mapped to residue 857 for RYR2.

RYR2	LPKEKLKVEHSREYKQERTYTRDLLGPTVS>L<TQAAFTPIPVDTSQIVLPPHLERIREKLAE	887
RYR1	LPRERLHLEPIKEYRREGPRGPHLVGPSRC>L<SHTDFVPCPVDTVQIVLPPHLERIREKLAE	875
RYR3	LPKEKMRLEPVKEYKRDADGIRDLLGTTQF>L<SQASFIPCPVDTSQVILPPHLEKIRDRLAE	874
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L857Q	c.2570T>A	Putative Benign			SIFT: Polyphen: