Figure 4
From: Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
Location of the 14 causative CREBBP mutations found in this study. Only exons are drawn to scale. The histone acetyl transferase domain and the plant homeodomain (PHD)-type zinc finger are indicated according to Kalkhoven et al. (2003), other domains according to Giles et al. (1997). Truncating mutations are in light-grey, missense mutations in dark-grey and the two previously reported mutations in italics.