Fig. 2
From: Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis
Mapping and identification of KIF3C and ZNF513 mutations. a The segregating haplotype associated with HGF was inferred (boxed) with seven short tandem repeat markers on 2p24.1–p23.2. KIF3C was flanked by D2S144 and D2S2223, and ZNF513 was flanked by D2S2247 and D2S365. The positions of the identified two mutations in KIF3C and ZNF513 are indicated by red triangles. b Chromatograms of the genomic sequence of the two mutations. The top and bottom diagrams show differential sequences and proteins, respectively, and the arrow indicates the mutated basic group. c HRM analysis curves of the patients’ and 500 healthy volunteers’ gDNA at position KIF3C c.1229 and ZNF513 c.748. Gray curves = control samples; red curves = patients. d Amino acid sequence alignment of the KIF3C and ZNF513 orthologues across different species. The arginine (R) residue at position 410 in KIF3C and residue at position 250 in ZNF513 are highly conserved. e Prediction of wild-type and mutant protein structures by I-TASSER and alignment by pymol. Mutant KIF3C and ZNF513 had clear differences in tertiary structure. Green = wild-type protein; red = mutant protein; yellow = wild-type amino acid; rose = mutant amino acid
