Paralogue Annotation for RYR1 residue 2752

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2752
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2752

No paralogue variants have been mapped to residue 2752 for RYR1.

RYR1	KAEKKATVDAEGNFDPRPVETLNVIIPEKL>D<SFINKFAEYTHEKWAFDKIQNNWSYGENID	2782
RYR2	MMEKQSSMDSEGNFNPQPVDTSNITIPEKL>E<YFINKYAEHSHDKWSMDKLANGWIYGEIYS	2748
RYR3	TLEKQISVDADGNFDPKPINTMNFSLPEKL>E<YIVTKYAEHSHDKWACDKSQSGWKYGISLD	2645
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2752Y	c.8254G>T	Putative Benign			SIFT: Polyphen: