FIGURE

Fig. 1

ID

ZDB-FIG-240828-44

Publication

De Bortoli et al., 2024 - Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV)

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Fig. 1

PIK3CA and PIK3R1 protein structures and distribution of identified variants. (a) PIK3R1 protein (p85) and its functional domains. Variants localized in the nSH2 domain (n = 1) and in the PI3K_P85_iSH2 domain (n = 3). L570P and L573P variants are predicted to be pathogenic but lack experimental validation. (b) PIK3CA (p110) and its functional domains. Variants reported in black localized in the Ca2+-binding domain (n = 2) and in PI3K catalytic domain (n = 1). Hotspot PIK3CA mutations are in grey. Cancer hotspot regions are highlighted in light blue. Ca2+, calcium ion; PI3K, phosphoinositide 3-kinase.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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