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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

Gene

the chromosomal position of the mutation

the mRNA accession

nucleotide changes

protein changes in HUGO gene nomenclature format

SIFT

PolyPhen

Mutation type

SLC39A4

8q24.3 exon 5

NM-130849

c.926G > T

p.Cys309Phe (p.C309F)

0.006

score:0.767;sensitivity: 0.85; specificity: 0.92

missense

SLC39A4

8q24.3 intron 5

NM-130849

c.976 + 2 T > A

–

–

–

a 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
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BMC Pediatrics

ISSN: 1471-2431

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