G58D (p.Gly58Asp) variant of CPS1 (P31327)
G58D (p.Gly58Asp) in CPS1 (P31327) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CPS1D. The record also includes published literature and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- UniProt VAR 066172
- Pathogenic
- in CPS1D
- Missense
- EBI: Pathogenic (in CPS1D)
- UniProt: Pathogenic (in CPS1D)
- Structural context available
- Cited in: Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure… (PMID 21120950)
- Cited in: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. (PMID 11388595)