Xenbase Image ID: 171542

Supplementary Figure 6 CPLANE mutations in human patients. (a) The D54 residue of WDPCP that is mutated in OFD is invariant from human to fish. (b) Y-shaped metacarpals in a human OFD patient with a mutation in INTU; this is patient #2 from Panigrahi et al., 2013. (c) An INTU mutation segregates with the OFD phenotype. (d) An INTU missense mutation segregates with NPHP in another family. (e) The A452 residue of INTU that is mutated in NPHP is not well conserved and may be hypomorphic, consistent with the more restricted phenotype in this patient. (f) The E500 residue of INTU that is mutated in SRP is invariant from human to fish. (g,h) Radiographs showing the phenotype of an SRP patient transheterozygous for mutations in INTU and WDR35 (Ift121), as indicated by the pedigree in panel i. (j) The W311 residue of WDR35 that is mutated in SRP is invariant from human to fish. Image published in: Toriyama M et al. (2016) Image downloaded from an Open Access article in PubMed Central. Image reproduced on Xenbase with permission of the publisher and the copyright holder. Larger Image Printer Friendly View

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