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. 2023 Jul 21;9:75. doi: 10.1038/s41421-023-00582-8

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© The Author(s) 2023

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 5 — a Distribution and number of carriers of CADASIL-susceptible variants in NOTCH3 protein. The variants are represented by their effect on amino acid in protein sequence according to Human Genome Variant Society Nomenclature. The upper panel shows the number of carriers for each variant. The variants are colored by their functional categorization. The lower panel shows the location of variants in NOTCH3 protein domains. b Violin plots of DWMH and PVH scores among carriers of Cys-altering SNVs in EGFr 1–6, 7–34, and non-EGFr regions. c Frequency of hyperintensities involving temporal lobe and external capsule, lacunes, microbleeds, and brain atrophy among carriers of Cys-altering SNV in EGFr 1–6, 7–34, and non-EGFr regions.