CPN1, carboxypeptidase N subunit 1, 1369

N. diseases: 31; N. variants: 8
Disease: Carboxypeptidase N Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398782
Disease: Carboxypeptidase N Deficiency
Carboxypeptidase N Deficiency 		0.500 GeneticVariation disease UNIPROT Therefore, using archival genomic DNA from a subject with documented carboxypeptidase N deficiency, we sequenced CPN1 (MIM 603103), which encodes the catalytic subunit of carboxypeptidase N. In the genomic DNA of the proband, we discovered three CPN1 variants: (1) 385fsInsG, a frameshift mutation in exon 1 due to a single G insertion at nucleotide 385; (2) 746G>A single-nucleotide polymorphism (SNP), a missense mutation in exon 3 that predicted substitution of aspartic acid for the wild-type conserved glycine at amino acid 178 (G178D); and (3) IVS1 +6C>T, an SNP in intron 1. 12560874 2003
CUI: C0398782
Disease: Carboxypeptidase N Deficiency
Carboxypeptidase N Deficiency 		0.500 Biomarker disease CTD_human