Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta

• Elena Makareeva ,

  Contributed equally to this work with: Elena Makareeva, Guoli Sun

  Roles Investigation, Writing – original draft, Writing – review & editing

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  http://orcid.org/0000-0002-5815-0760

  ⨯
• Guoli Sun ,

  Contributed equally to this work with: Elena Makareeva, Guoli Sun

  Roles Investigation, Writing – original draft, Writing – review & editing

  Affiliation Department of Pathology, University of Washington, Seattle, Washington, United States of America

  ⨯
• Lynn S. Mirigian,

  Roles Investigation

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  ⨯
• Edward L. Mertz,

  Roles Investigation

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  ⨯
• Juan C. Vera,

  Roles Investigation

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  ⨯
• Nydea A. Espinoza,

  Roles Investigation

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  ⨯
• Kathleen Yang,

  Roles Investigation

  Affiliation Department of Pathology, University of Washington, Seattle, Washington, United States of America

  ⨯
• Diana Chen,

  Roles Investigation

  Affiliation Department of Pathology, University of Washington, Seattle, Washington, United States of America

  ⨯
• Teri E. Klein,

  Roles Conceptualization, Investigation, Writing – original draft, Writing – review & editing

  Affiliation Department of Genetics, Stanford University, Palo Alto, California, United States of America

  ⨯
• Peter H. Byers ,

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Supervision, Writing – original draft, Writing – review & editing

  ¶‡ These authors also contributed equally to this work.

  Affiliations Department of Pathology, University of Washington, Seattle, Washington, United States of America, Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, United States of America

  ⨯
• Sergey Leikin

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: leikins@mail.nih.gov

  ¶‡ These authors also contributed equally to this work.

  Affiliation Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America

  http://orcid.org/0000-0001-7095-0739

  ⨯