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. 2020 May 7;106(6):893–904. doi: 10.1016/j.ajhg.2020.04.005

Figure 2.

Figure 2

Heterozygous Nonsynonymous Variants in KIF3B Segregate with Ciliopathy Phenotypes in Dominant Pedigrees

(A) Pedigrees of families A and B with segregation of KIF3B variants. Filled circles and squares represent affected female or male individuals, respectively; unfilled circles and squares represent unaffected female or male individuals; respectively. Deceased individuals are indicated by diagonal lines. Exome sequencing was performed for individuals marked with an arrow. Individual genotypes at the KIF3B locus are indicated in blue. All affected individuals in family B carried the KIF3B c.1568T>C (p.Leu523Pro) encoding variant (IV-1, IV-3, IV-4, IV-6, V-4, V-7, VI-1, VI-2) but the unaffected individual (V-3) was WT.

(B) Schematic of KIF3B gene organization and protein domains. Untranslated exons, white boxes; translated exons, black boxes; red arrows and arrowheads, KIF3B variants identified in humans. Kinesin motor, coiled coil, and globular domains (UniProtKB, PROSITE annotations, GenBank: NP_004789.1) are indicated.

(C) Conservation of 40 amino acid blocks impacted by nonsynonymous changes shown with a multiple sequence alignment (Clustal W v1.81) of 25 species sorted by pairwise identity. Red boxes, variant residues; blue shading of amino acids from dark to light represents most to least conserved, respectively. UniProtKB identifiers: Homo sapiens, O15066; Macaca mulatta, F6S877; Gorilla gorilla, G3RAF7; Mustela putorius furo, M3Z2F0; Canis lupus familiaris, E2QUS2; Loxodonta africana, G3T0G8; Callithrix jacchus, F7IBN6; Ailuropoda melanoleuca, G1M429; Felis catus, A0A2I2UKW2; Sus scrofa, F1S519; Bos taurus, F1N020; Mus musculus, Q61771; Ovis aries, W5NZV7; Rattus norvegicus, D3ZI07; Monodelphis domestica, F6RWN1; Sarcophilus harrisii, G3WA27; Cavia aperea, ENSCAPP00000010080 (ensembl, UniProtKB identifier not available); Gallus gallus, Q5F423; Xenopus tropicalis, F6R640; Oryctolagus cuniculus, G1U1D0; Danio rerio, F1QN54; Oryzias latipes, H2LAE9; Ciona intestinalis, F7B875; Drosophila melanogaster, P46867; Saccharomyces cerevisiae, P28742.