Fig. 2 | Genetics in Medicine

Fig. 2

From: Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Fig. 2

Distribution of missense mutations in the DNA binding domain of IRF6. Mutations were identified in families with VWS (closed circles) and families with PPS (open circles). Amino acids predicted to directly contact DNA (underline) are based on crystal structure of IRF1 (see text). The expected number of mutations that contact DNA is based on the ratio of 17 amino acids that are predicted to contact the DNA (underlined, see text) out of 120 total amino acids in the DNA binding domain.

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