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. 2015 Dec 9;4(12):e002443. doi: 10.1161/JAHA.115.002443

Figure 3.

Figure 3

Whole exome sequencing identified compound heterozygous truncating mutations in XIRP2. A, Family pedigree. B, Sanger sequencing of XIRP2 confirmed the truncation mutations. C, Gene and protein topology for XIRP2. XIRP2 contains 28 xin repeats, 6 proline‐rich regions, a serine‐rich region, and 4 coiled‐coil domains. The Asn2323fs*15 mutation adds a 15‐residue anomalous peptide tail and truncates the protein within the 5th proline‐rich region before the last proline‐rich region, which binds to the SH3 domain of nebulette, and 3 of the coiled‐coil domains. The Phe1820fs*2 occurs even further upstream, truncating 3 additional proline‐rich regions and a coiled‐coil domain. EVH1 indicates Ena/VASP homology 1 domain.