Fig 1: Identification of a hemizygous mutation c.96G > T in SH2D1A gene of the proband. (A) Schematic diagram of SH2D1A gene. The mutation site was highlighted in red. (B) Results of Sanger sequencing. The arrows indicated the sites of mutation. (C) Genetic pedigree of the family.
Fig 2: The mutant SAP protein was highly pathogenic with structural and functional. (A) The pathogenicity of mutant SAP protein was predicted by PolyPhen-2. The greater the pathogenicity, the closer the score is to 1.0. (B) The secondary structure of SAP protein and a structural comparison between wild-type and mutant SAP protein. The site and labels of mutation were highlighted in magenta. The green dotted lines illustrated hydrogen bonds. The magenta arrows indicated the turnover of a hydrogen bond. (C) Expression of SAP in the patient and parents detected by flow cytometry. Peaks in red were negative controls. Peaks in green illustrated expression of SAP.
Supplier Page from Abcam for Anti-SH2D1A/SAP antibody [EPR3168]