Paralogue Annotation for RYR2 residue 2005

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2005
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2005

No paralogue variants have been mapped to residue 2005 for RYR2.

RYR2	LNFKD--DKSECPCPEEIRDQLLDFHEDLM>T<HCGIELDEDG-SLDGNSDLTIRGRLLSLVE	2034
RYR1	LQFKDGTDEEDCPLPEEIRQDLLDFHQDLL>A<HCGIQLDGEEEEP--EEETTLGSRLMSLLE	2068
RYR3	LNFQL--GE-NCPCPEEIREELYDFHEDLL>L<HCGVPLEEEE-EE--EEDTSWTGKLCALVY	1932
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2005A	c.6013A>G	Putative Benign		rs373235823	SIFT: tolerated Polyphen: benign