Fig. 2

Mutations in the gene SH2D1A. a Sanger sequencing results of the 3-years-old child (underside), his father (top left) and his mother (top right). Mutation position is marked with red arrow. The results show heterozygosity for this mutation in his mother, but wild type sequences in his father. As indicated, deleted nucleotide caused a frameshift in the corresponding sequence. b) Mutations recorded in SWISSPROT. All mutations are marked in blue and each mutational hotspot is indicated by black box. Almost all the mutations located in these three regions have been reported to be disease-causing defects. The novel deletion detected in this study is marked with red arrow and the premature stop codon is marked with purple arrow. “VAR_048***” is the accession No in SWISSPROT, “ND” represents for “Not detected”, “+” indicates that the mutation could reduce protein stability or interaction with other protein, “++” indicates a significant reduction and “N” indicates totally abolished interaction with SLAMF1. “-“means no data available