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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Figure 2

Novel CDK5RAP2 gene mutation in patients with MCPH3. (A) Schematic representation of the domain structure of CDK5RAP2 showing the positions and the effects of CDK5RAP2 mutations that cause MCPH3. Nonsense mutation c.4441C > T is shown as a solid arrow and previously described CDK5RAP2 mutations as dotted arrows. (B) Predicted protein products that result from the CDK5RAP2 gene mutations. The star indicates the binding site of the anti-CDK5RAP2 antibody utilized in this study. (C) Electropherogram shows mutation c.4441C > T in patient 1 and the normal sequence in a control.

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