Fig. 2

Validation for the expression of ADNP mutants in HEK293T cells. A Schematic depiction of human ADNP with functional domains indicated, including nine zinc fingers, a NAP (NAPVSIPQ), a nuclear localization signal (NLS), a homeobox domain, and a PXVXL motif. All the mutations were indicated by arrows. Please note that although hmut5/6 and hmut7/8 produce the same effect at the protein level (p.Y719*), they are distinct variants. Specifically, hmut5/6 corresponds to the c2157 C > A mutation, while hmut7/8 corresponds to the c2157 C > G mutation. B Predicted 3D structure of human ADNP with all the functional domains and mutations highlighted. C Representative Western Blot images showing the expression of wildtype (hADNP) and ADNP mutants (hmuts) in HEK293T cells. Sham, no transfection control. Two different antibodies were used: anti-HA, fused to the N-terminus of ADNP (HA-ADNP); anti-Flag, fused to the C-terminus of ADNP (ADNP-Flag). Dashed lines highlight the main protein bands from anti-HA (green) and anti-Flag (red) blots. GAPDH was used as a loading control. The representative entire blot for anti-Flag was included in the Additional file 6: Fig. S2A