Paralogue Annotation for RYR1 residue 4543

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4543
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4543

No paralogue variants have been mapped to residue 4543 for RYR1.

RYR1	PKKQ---------APPSPPPKKEEAGGEFW>G<ELEVQRVKFLNYLSRNFYTLRFLALFLAFA	4573
RYR2	QKLR--------QLHTHRYGEPEVPESAFW>K<KIIAYQQKLLNYFARNFYNMRMLALFVAFA	4512
RYR3	EYLWTEVTKKKKRRCGQKVEKPEAFTANFF>K<GLEIYQTKLLHYLARNFYNLRFLALFVAFA	4423
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4543V	c.13628G>T	Putative Benign		rs200002274	SIFT: Polyphen:
p.G4543A	c.13628G>C	Putative Benign			SIFT: Polyphen: