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Studies have reported clinical differences between canonical and non-canonical mutations, but these findings are constrained by small sample sizes and scarcity of genetic studies. In our study, we screened 29,000 individuals for\n                    <jats:italic>UBA1<\/jats:italic>\n                    variants, referred for a broad range of hematologic diseases, and subjected to 62-gene panel sequencing, identifying 232 patients carrying likely disease-causing mutations. We identified decreased polyubiquitylation in all of the 18\n                    <jats:italic>UBA1<\/jats:italic>\n                    variants tested and found differences in H2A\/B monoubiquitylation alteration between M41 and non-M41 mutations. Our findings confirm that patients harboring M41 mutations present at most with myelodysplastic neoplasms (MDS) and suggest that M41 mutations generally do not tolerate multiple co-mutations. In contrast, non-M41 mutations are more likely to appear with co-mutations and are detected in patients with hematologic neoplasms other than MDS. Our study establishes that M41 and non-M41 mutations exhibit distinct clinical and biological phenotypes, significantly enhancing\n                    <jats:italic>UBA1<\/jats:italic>\n                    variant interpretation.\n                  <\/jats:p>","DOI":"10.1038\/s41375-025-02775-4","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T10:34:17Z","timestamp":1760006057000},"page":"2872-2880","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations"],"prefix":"10.1038","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7579-6232","authenticated-orcid":false,"given":"Maki","family":"Sakuma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9727-7552","authenticated-orcid":false,"given":"Amy K.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5345-217X","authenticated-orcid":false,"given":"Samuel J.","family":"Magaziner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko P.","family":"Keane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9038-3265","authenticated-orcid":false,"given":"Manja","family":"Meggendorfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6452-2874","authenticated-orcid":false,"given":"Wolfgang","family":"Kern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6333-5049","authenticated-orcid":false,"given":"Claudia","family":"Haferlach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0196-2837","authenticated-orcid":false,"given":"Torsten","family":"Haferlach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5884-6231","authenticated-orcid":false,"given":"David B.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5083-9838","authenticated-orcid":false,"given":"Wencke","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"key":"2775_CR1","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","volume":"383","author":"DB Beck","year":"2020","unstructured":"Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. 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MS, MM, and WW are employed by MLL Munich Leukemia Laboratory.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All patients gave their informed consent for genetic analyses and the use of laboratory results for research purposes. The study adhered to the tenets of the Declaration of Helsinki and was approved by the laboratory\u00b4s institutional review board and the Ethics Committee of the Bavarian Medical Association for the use of archived DNA\/RNA samples and associated clinical information. The clinical data were retrieved, and the samples were collected and analysed with the endorsement of the Ethics Committee of the Bavarian Medical Association.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}