Paralogue Annotation for RYR1 residue 2053

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2053
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2053

No paralogue variants have been mapped to residue 2053 for RYR1.

RYR1	LPEEIRQDLLDFHQDLLAHCGIQLDGEEEE>P<--EEETTLGSRLMSLLEKVRLVKKKEEKPE	2081
RYR2	CPEEIRDQLLDFHEDLMTHCGIELDEDG-S>L<DGNSDLTIRGRLLSLVEKVTYLKKKQA--E	2045
RYR3	CPEEIREELYDFHEDLLLHCGVPLEEEE-E>E<--EEDTSWTGKLCALVYKIKGPPKPEK--E	1943
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2053Q	c.6158C>A	Putative Benign			SIFT: Polyphen: benign