Nucleotide sequence, amino acid positions, and conservation of the three new KIF21A mutations. (A) Heterozygous de novo KIF21A mutations in probands of pedigrees RY, SK and XF. Sequence chromatographs of the unaffected parents are normal (top 2 rows), while sequence chromatographs of the affected offspring with CFEOM1 (bottom row) each reveals a heterozygous KIF21A mutation. The normal sequence and corresponding amino acid residues are indicated under each father's sequence chromatograph (black), while the mutation and resulting amino acid substitution are denoted under each affected proband's sequence (red). (B) Portions of the human KIF21A amino acid sequence that surround each of the reported CFEOM1 mutations aligned with homologous/paralogous sequence. Positions a-g of heptad repeat sequence are denoted. Identical amino acid residues are highlighted in dark gray; similar residues are highlighted in light grey. The residues altered by the three new mutations are boxed in red, and the previously reported mutations are boxed in blue. (C) Predicted KIF21A protein structure. The amino acid residues altered by the 3 new heterozygous mutations are depicted in red with red arrows above the protein pointing to their predicted positions. The 8 previously reported KIF21A mutations are indicated in blue and their locations are indicated by blue arrows above the protein.
Chan et al. BMC Genetics 2007 8:26 doi:10.1186/1471-2156-8-26