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Table 1 Clinical characteristics and non-synonymous variants identified in DJS patients with ABCC2 p.G693R mutation

From: A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

Patient NumberAge (year)SexVariantsTB (μmol/L)DB (μmol/L)ALT (U/L)AST (U/L)ALP (U/L)GGT (U/L)TBA (μmol/L)ALB (g/L)PTA (%)Abdominal ultrasonographyLiver stiffness (Kpa)
121Femalep.G693R (c.2190G > A), p.R529Q (c.1586G > A)9454482879322.94598Normal3.5
239Malep.G693R (c.2190G > A), p.G808V (c.2536G > T)9749431778232.846109Hepatic hemangioma,cholecystolithiasisNA
  1. DJS Dubin-Johnson syndrome, TB total bilirubin, DB direct bilirubin, ALT alanine aminotransferase, AST aspartate aminotransferase, ALP alkaline phosphatase, GGT γ-glutamyl transpeptidase, TBA total bile acid, ALB albumin, PTA prothrombin activity, NA not available