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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

Fig. 1

Analysis of DNMT3A sequence and structure. A Domain organization of DNMT3A. Yellow: Proline-tryptophan-tryptophan-proline (PWWP) domain, gray: ATRX-DNMT3A-DNMT3L-type zinc finger (ADD) domain, green: C5-type methyltransferase (MTase) domain. B Structure of DNMT3A in complex with DNMT3L and DNA (PDB: 5YX2). DNMT3A is in green, DNMT3L is in blue, DNA is in orange, and the Ser775 residue is shown in magenta colored spheres. C Multiple sequence alignment of representative mammalian DNMT3A proteins, Latimeria DNMT3A and human DNMT3B, showing the conserved region containing the Ser775 residue. D The mutated residue 775 is positioned near the interface of interaction between DNMT3A and DNMT3L (PDB: 5YX2). Interface is shown in yellow

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Clinical Epigenetics

ISSN: 1868-7083

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