Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

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Supporting Information The following Supporting information is available for this article: Fig. S1. Denaturing high-performance liquid chromatography electropherograms. (a) Electropherograms showing c.925G>C, predicting p.Gly309Arg in the JAGGED1 (JAG1) gene from a patient (TF4) with isolated tetralogy of Fallot (TOF) versus wild type. (b) Electropherograms showing c.2429C>T, predicting p.Pro810Leu in the JAG1 gene from a patient (TF47) affected by syndromic TOF with cleft lip and palate and mild cognitive deficit versus wild type. (c) Electropherograms showing c.2810G>A, predicting p.Arg937Gln in the JAG1 gene from a patient (TF35 and HD026) with TOF versus wild type. Fig. S2. DNA sequencing chromatograms showing heterozygosity in JAGGED1 (JAG1) coding region. Arrows indicate the variant nucleotides. Wild-type and mutated sequences are shown below the electropherograms (mutations are boxed in red). (a) Chromatogram showing c.925G>C, predicting p.Gly309Arg in the JAG1 gene from a patient (TF4) with isolated tetralogy of Fallot (TOF). (b) Chromatogram showing c.2429C>T, predicting p.Pro810Leu in the JAG1 gene from a patient (TF47) affected by syndromic TOF with cleft lip and palate and mild cognitive deficit. (c) Chromatogram showing c.2810G>A, predicting p.Arg937Gln in the JAG1 gene from a patient (TF35 and HD026) with TOF. Fig. S3. Alignment of amino acid residues adjacent to JAGGED1. (a) p.Gly309Arg, (b) p.Pro810Leu, and (c) p.Arg937Gln sequence variants showing level of conservation among different species (homo sapiens [NP_000205.1], pan troglodytes [XP_001169666.1], canis lupus familiaris [XP_858823.1], mus musculus [NP_038 850.1], bos taurus [NP_001178107.1], gallus gallus [XP_415035.2], and danio rerio [NP_571938.1]). The amino acidic residue altered by the mutation is highlighted in yellow. Fig. S4. Crystallographic structure of the second epidermal growth factor-like domain of protein JAGGED1 (17). The figure shows the replacement of the small and neutral glycine at position 309 (highlighted by the green grid) with the much larger and positively charged arginine (highlighted by the red grid). Table S1. List of polymorphisms detected in the JAGGED1 gene. Additional Supporting information may be found in the online version of this article. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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