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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Fig. 3

Schematic of the human MAF protein indicating the positions of reported variants (Adapted from Niceta et al. [27]). The protein contains an N-terminal transactivation domain and a C-terminal DNA binding domain. The C-terminal domain consists of an extended homology region, basic region (aa288–313) and leucine-zipper region (aa316–aa337). The variants associated with Aymé-Gripp syndrome are located in the N-terminal transactivation domain including the variant (p.(Pro59Arg)) reported here (bolded and underlined). Other variants are located within the C-terminal DNA-binding domain and are associated with other forms of congenital cataract mainly isolated

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BMC Medical Genetics

ISSN: 1471-2350

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