Fig. 2: A family pedigree and genetic analysis.
From: A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
a Family pedigree of the patient. P: proband. b Sanger sequencing of the patient and the parents. c MAP3K7 p.Thr187Ile affects an evolutionarily conserved amino acid residue in multiple species. The colors of the amino acid sequences were set according to their physicochemical properties: red for small and hydrophobic, blue for acidic, magenta for basic, and green for hydroxyl or sulfhydryl or amine.
