Paralogue Annotation for RYR2 residue 2035

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2035
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2035

No paralogue variants have been mapped to residue 2035 for RYR2.

RYR2	HCGIELDEDG-SLDGNSDLTIRGRLLSLVE>K<VTYLKKKQA--EKPVESDSKKSSTLQQLIS	2063
RYR1	HCGIQLDGEEEEP--EEETTLGSRLMSLLE>K<VRLVKKKEEKPEEERSAEESKPRSLQELVS	2099
RYR3	HCGVPLEEEE-EE--EEDTSWTGKLCALVY>K<IKGPPKPEK--EQPTEEEERCPTTLKELIS	1961
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2035N	c.6105G>C	Putative Benign			SIFT: Polyphen: