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Table 1 Genetic analysis of the patient’s ATP7B gene mutations

From: Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review

Exon score Location Nucleotide mutation Amino acid alteration Allele Known pathogenic
8 2333 G > T p.Arg778Lcu Heterozygote Mutations
11 2621 C > T p.Ala874Val Heterozygote Suspicious pathogenic mutations