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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Fig. 3

Schematic representation of KAT6A and localization of pathogenic variants, at the protein level (upper panel) and the exonic gene structure (scaled). (1) p.Cys1096Phefs*27; p.Cys1096Leufs*6; p.Cys1096Serfs*6; (2) p.Leu1219Thrfs*75; p.Leu1219Tyrfs*75; (3) p.Gln1348Argfs*7; p.Gln1348*; (4) Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity; (+) activation. In bold, missense mutations. Underlined, mutations identified in the patients presented here

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172