Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect

• Julia Böck ,

  Contributed equally to this work with: Julia Böck, Einar Krogsaeter

  Roles Data curation, Formal analysis, Methodology, Validation, Visualization

  Affiliation Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig-Maximilians-Universität, Munich, Germany

  https://orcid.org/0000-0002-3768-7884

  ⨯
• Einar Krogsaeter ,

  Contributed equally to this work with: Julia Böck, Einar Krogsaeter

  Roles Data curation, Formal analysis, Methodology, Validation, Visualization

  Affiliation Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig-Maximilians-Universität, Munich, Germany

  https://orcid.org/0000-0001-8232-5498

  ⨯
• Marcel Passon,

  Roles Formal analysis, Methodology, Validation, Visualization

  Affiliation Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig-Maximilians-Universität, Munich, Germany

  https://orcid.org/0000-0002-9776-4992

  ⨯
• Yu-Kai Chao,

  Roles Data curation, Formal analysis, Methodology

  Affiliation Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig-Maximilians-Universität, Munich, Germany

  https://orcid.org/0000-0002-1202-2448

  ⨯
• Sapna Sharma,

  Roles Methodology, Writing – review & editing

  Affiliation Helmholtz Zentrum–Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Epidemiology, Neuherberg, Germany

  ⨯
• Harald Grallert,

  Roles Methodology

  Affiliation Helmholtz Zentrum–Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Epidemiology, Neuherberg, Germany

  https://orcid.org/0000-0002-6876-9655

  ⨯
• Annette Peters,

  Roles Methodology, Resources

  Affiliation Helmholtz Zentrum–Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Epidemiology, Neuherberg, Germany

  https://orcid.org/0000-0001-6645-0985

  ⨯
• Christian Grimm

  Roles Conceptualization, Funding acquisition, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: christian.grimm@med.uni-muenchen.de

  Affiliation Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig-Maximilians-Universität, Munich, Germany

  https://orcid.org/0000-0002-0177-5559

  ⨯