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Table 1 The details of the genetic variants found in this case

From: Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

Genethe chromosomal position of the mutationthe mRNA accessionnucleotide changesprotein changes in HUGO gene nomenclature formatSIFTPolyPhenMutation type
SLC39A48q24.3 exon 5NM-130849c.926G > Tp.Cys309Phe (p.C309F)0.006score:0.767;sensitivity: 0.85; specificity: 0.92missense
SLC39A48q24.3 intron 5NM-130849c.976 + 2 T > Aa splice site mutation
  1. “-” No information is displayed because the mutation site is located in the intron; SIFT: Score 0–0.05, predicted as damaging; PolyPhen: this mutation is predicted to be possibly damaging