WES identification of heterozygous compound mutations in ALPI

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WES identification of heterozygous compound mutations in ALPI

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WES identification of heterozygous compound mutations in ALPI WES identification of heterozygous compound mutations in ALPI Variant identification pipeline for WES in P1 and P2 (see also Appendix Tables S1 and S2).Unrelated familial trees showing affected children in black and healthy individuals in white.Sanger sequencing of the region corresponding to mutations in ALPI in both families.Location of ALPI on chromosome 2 and diagrams featuring ALPI gene with its nine exons and ALPI protein with its N‐terminal signal peptide, phosphatase domain and C‐terminal recognition signal for the transamidase complex (GPI‐anchor attachment site), which removes the GPI signal sequence and replaces it by a preformed GPI precursor glycolipid. Arrows point to mutations identified in P1 and P2. Numbers indicate amino acid position. Marianna Parlato et al. EMBO Mol Med. 2018;10:e8483 © as stated in the article, figure or figure legend