Fig. 1: Patients with KIF21B variants. | Nature Communications

Fig. 1: Patients with KIF21B variants.

From: Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Fig. 1

a–d Pedigrees of patients with identified KIF21B variants. e–g Sagittal brain section of patient’s MRI showing a complete agenesis of the corpus callosum in patient 1 (e, red arrow) and microcephaly in patient 2 (f). h Schematic representation of the human KIF21B (hKIF21B) protein indicating the different domains (motor domain, ATP binding site, coiled-coil domain (CC) 1 and 2, regulatory coiled-coil domain (rCC) and WD40 domain) and the position of the mutated amino acids for patient 1 (p.Ile678Leu), 2 (p.Gln313Lys), 3 (p.Ala1001Thr) and 4 (p.Asn988SerfsX4). T96N substitution that abolishes KIF21B mobility is also depicted.

Back to article page