Schematic representation of the FasL protein and alignment of sequences. (A) Exon 4 sequence analysis of FASL. The homozygous and heterozygous mutation (A247E) is shown in the patient and her mother, respectively. (B) In the extracellular part of the protein are shown the self-assembly domain³² ; the heterozygous deletion of 28 amino acid (M158_E185DEL)¹⁵ ; 3 potential N-glycosylation sites at asparagines 184, 250, and 260 residues; the mutation characterized that changes an alanine for a glutamic acid (A247E); and the gld human FasL construct prepared with the corresponding mutation found in gld mice (F275L in the human sequence).³²  (C) Alignment of the COOH terminal portion of the FasL protein, demonstrating the highly conserved amino acids A240, A247, N260, S262, and F275. Aligned FasL sequences are from the patient (GenBank accession no. AY858799), gld human FasL construct, Homo sapiens (GenBank accession no. AY225406), Macaca mulatta (GenBank accession no. AB035139), Macaca fascicularis (GenBank accession no. AB035138), Cercocebus torquatus (GenBank accession no. AF344847), Felis catus (GenBank accession no. NM_001009352), Sus scrofa (GenBank accession no. NM_213806), Mus musculus (GenBank accession no. NM_010177), Rattus norvegicus (GenBank accession no. NM_012908), and Gallus gallus (GenBank accession no. AJ890143).