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Fig. 2 | Molecular Autism

Fig. 2

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

Fig. 2

Mutations in PHF21A and domain structure of the protein. Six mutations located in corresponding exons are depicted. Eighteen exons are represented by light blue boxes with corresponding numbers below connected by a horizontal black line representing the introns. The arrow in the intron shows the transcription direction. The UTRs are depicted by gray boxes, and the diagonal lines indicate not to scale. Note that the size of exons, mutation location, and protein domains are to scale; however, the size of the introns and UTRs are not. The identified deletions, duplication, and point mutations on the cDNA level (NM_001101802.1) are depicted in red above the exons. The nonsense mutation c.1738C>T has been found in two patients. The dotted black lines connect the corresponding exons encompassed within each functional domain demarcated by a corresponding amino acid residue number (NP_001095272.1)

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