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. 2024 Apr 8;16(5):1091–1114. doi: 10.1038/s44321-024-00062-w

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/ applies to the data associated with this article, unless otherwise stated in a credit line to the data, but does not extend to the graphical or creative elements of illustrations, charts, or figures. This waiver removes legal barriers to the re-use and mining of research data. According to standard scholarly practice, it is recommended to provide appropriate citation and attribution whenever technically possible.

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(A) Schematic figure of asymmetric cell division in neuroblast. Inscuteable (INSC), an adaptor protein in asymmetric cell division, regulates microtubules by binding with PAR3 and LGN. (B) The INSC p.Met70Arg variant resides in the LGN-binding domain of the human INSC protein. (C) The CMT2 pedigree carrying the INSC mutation. “M” represents the INSC mutant allele, and “W” stands for wild-type allele. Open symbol: unaffected; filled symbol: affected; symbol with a diagonal line: deceased; arrow: proband; squares: males; circles: females; brackets with dashed line: adopted into the pedigree. (D) Sanger sequencing traces confirming the c. 290 T > G (p.Met70Arg, M70R) variant.