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Fig. 2 | BMC Neurology

Fig. 2

From: Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

Fig. 2

Schematic representation of DNMT1 gene structure and its multiple domains in the N-terminal region. The boxes indicate PBD (the proliferating cell nuclear antigen-binding domain), TS (the replication focus targeting sequence), ZnF (zinc finger), BAH (bromo-adjacent homologydomain).The position of the mutation in the proband is indicated in the dotted box. The sequence data for mutation was deconvoluted to indicate a novel heterozygous missense variant. The tyrosine (Y) residue at amino acid position 540 is replaced with asparagine amino acid residue.

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BMC Neurology

ISSN: 1471-2377

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