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Fig. 3 | Molecular Autism

Fig. 3

From: Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Fig. 3

PHF21A functional domains in wildtype and theoretical missense and truncated or altered proteins in seven subjects. PHF21A contains two leucine zipper domains (LZD1 and LZD2), one AT Hook domain, one PHD zinc finger domain, and one intrinsically disordered region (IDR). The amino acid positions of all domains are indicated as numbers below the domain structures. Aberrant amino acid sequences produced by frameshifts are indicated as brown bars, under which the starting aberrant residue is indicated as a number. Note that the size of the functional domains is to scale; however, the regions connecting them are not. In patient 1, the preserved 651 amino acids are followed by 103 aberrant amino acids, which results in an aberrant elongated protein of 754 aa. In patient 2, the missense mutation indicated as a red dot is located in the AT Hook domain. In patient 3, the first 652 amino acids in the wildtype protein were followed by 102 aberrant amino acids, resulting in a 754 aa elongated mutant protein. A 754 aa elongated chimeric protein in patient 7 is composed of the 674 aa wildtype protein plus 80 aberrant amino acids. If expressed, the truncated protein in patients 4 and 6 loses a LZD2 domain, and in patient 5, the LZD2 domain as well as the PHD finger domain, both essential for binding H3K4me0, is missing. In patients 1, 3, and 7, the IDR has been truncated as shown by the partial blue box

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