Paralogue Annotation for RYR1 residue 2016

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2016
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2016

No paralogue variants have been mapped to residue 2016 for RYR1.

RYR1	MTAAETARRTREFRSPPQEQINMLLQFKDG>T<DEEDCPLPEEIRQDLLDFHQDLLAHCGIQL	2046
RYR2	MSAALTARKTKEFRSPPQEQINMLLNFKD->-<DKSECPCPEEIRDQLLDFHEDLMTHCGIEL	2011
RYR3	MSAALTARKTKEFRSPPQEQINMLLNFQL->-<GE-NCPCPEEIREELYDFHEDLLLHCGVPL	1911
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2016I	c.6047C>T	Putative Benign			SIFT: Polyphen: