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. 2010 Jun 11;86(6):839–849. doi: 10.1016/j.ajhg.2010.04.011

Figure 5.

Figure 5

TAB2 Is Mutated and Disrupted in CHD Patients

(A and B) Partial TAB2 reference-sequence-read traces and corresponding traces of missense mutations as identified in patients L and M (phenotypes detailed in the main text).

(C) Conservation of mutated residues in several tetrapod and fish lineages. TAB2 is not found in lower lineages; the mutated residues are not conserved in the paralogous TAB3.

(D) Pedigree of family N. Translocation carriers are marked, and the breakpoint on chromosome 6 disrupts TAB2. Phenotypes are as annotated in the insert and are detailed in the main text.