Skip to main content
. 2009 May 22;18(16):2963–2974. doi: 10.1093/hmg/ddp235

Figure 1.

Figure 1.

Schematic representation of exons 2–8 of UMOD illustrating the locations of 46 mutations. The 40 previously described mutations and the 6 mutations described in this study are shown below and above the gene, respectively. The majority (>87%) of the mutations have been identified in FJHN patients, ∼10% in MCKD patients (*) and ∼2.5% in GCKD patients (†) (2,3,8,9,19–27). Missense substitutions are indicated by single-letter amino acid codes, and three inframe deletions are indicated by horizontal lines a–c. Most of the mutations cluster in exons 3 and 4, which encode the three epidermal growth factor (EGF)-like domains, and the cysteine-rich region, which includes the domain of eight cysteines (D8C). The G488R mutation is the first to be described in exon 7, which encodes part of the zona pellucida (ZP) domain (grey diagonal stripes).