Topology model of MRP2 protein and pedigree of the studied family and the ABCC2 exome sequencing results. (IMAGE)

First Hospital of Jilin University

Topology model of MRP2 protein and pedigree of the studied family and the ABCC2 exome sequencing results.

Caption

 (A) Localisation of the R393 and L1211 in a predicted topology model of MRP2 protein. The full-length model was generated by the open-source tool Protter (http://wlab.ethz.ch/protter/start/). (B) Sequencing analysis of the ABCC2 gene indicates the disease-associated variant of probands (II-2, II-3), the missense mutation 1177C>T predicated to cause the mutation Arg393Trp (R393W) in the amino-acid sequence of the MRP2 protein heredity from the father (I-1) and (C) the missense mutation 3632T>C (L1211P) inherited from the mother (I-2). (D) Pedigree of the family presenting ABCC2 variants. Circles and squares represent females and males, respectively. Half-black filled symbols represent heterozygous mutation carriers, and the question mark symbol indicates the normal subject without genetic examination. The black-filled symbols represent the twin probands. MSD, membrane-spanning domain; NBD, nucleotide-binding domain.

Credit

By Sun R, Chen Y, Zhu M, et al.

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CC BY-NC

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