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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Figure 4

Identification of a pathogenic mutation in KIF7 in the affected family. A) Sequence chromatogram from control, affected member and a carrier illustrating c.3179A > G mutation. B) Depiction of the p.N1060S missense allele (red), as well as all previously identified disease-causing variants (black) along the KIF7 protein domains. The KIF7 gene encodes a 1343 aa protein with a kinesin motor domain, Gli-binding domain (BD), Nephoronophthisis-1-interacting domain (NPHP1-ID) and a Structural Maintenance of Chromosomes (SMC) domain representing the ATPase activity. Domains are delineated by aa positions below the diagram. Positions 895 and 898 are presumptive phosphorylated sites. C) Sequence conservation of the p.N1060 residue across vertebrates.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172