Paralogue Annotation for RYR2 residue 848

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 848
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 848

No paralogue variants have been mapped to residue 848 for RYR2.

RYR2	GYAPCYEAVLPKEKLKVEHSREYKQERTYT>R<DLLGPTVSLTQAAFTPIPVDTSQIVLPPHL	878
RYR1	GYAPCHEAVLPRERLHLEPIKEYRREGPRG>P<HLVGPSRCLSHTDFVPCPVDTVQIVLPPHL	866
RYR3	GYAPCYEALLPKEKMRLEPVKEYKRDADGI>R<DLLGTTQFLSQASFIPCPVDTSQVILPPHL	865
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R848C	c.2542C>T	Putative Benign			SIFT: Polyphen: