G483R (p.Gly483Arg) variant of PCSK1 (Neuroendocrine convertase 1)
G483R (p.Gly483Arg) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to prohormone convertase I deficiency. The record also includes variant effect predictions, published literature, and structural context.
G483R (p.Gly483Arg) variant details
- p.Gly483Arg
- rs137852821
- ClinGen CA123724
- ClinVar RCV000015081
- UniProt VAR 022778
- Pathogenic
- Obesity due to prohormone convertase I deficiency
- Missense
- MutPred 0.23
- ClinVar: Pathogenic (Obesity due to prohormone convertase I deficiency)
- EBI: Pathogenic (in PC1 deficiency)
- UniProt: Pathogenic (in PC1 deficiency)
- Structural context available
- Cited in: Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. (PMID 9207799)
- Cited in: Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. (PMID 14617756)