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von Willebrand factor-T441N, a novel missense variant in the von Willebrand factor D2 domain, exhibits impaired multimerization and deformed Weibel-Palade bodies.

Journal of thrombosis and haemostasis : JTH - 1 Feb 2026

Okamoto Shuichi, Tamura Shogo, Suzuki Atsuo, Suzuki Nobuaki, Kanematsu Takeshi, Suzuki Naruko, Tomita Masashi, Hayakawa Fumihiko, Katsumi Akira, Kiyoi Hitoshi, Kojima Tetsuhito, Matsushita Tadashi

Abstract excerpt

BACKGROUND: von Willebrand factor (VWF) propeptide (VWFpp) located in the D1-D2 domain of pro-VWF, is essential for multimerization and intracellular storage of VWF. Pathogenic variants of VWFpp cause various subtypes of von Willebrand disease, such as type 1, type 2A, type 2N, and type 3. In heterozygotes of these variants, VWFpp derived from the normal allele can rescue the abnormalities observed in the...

Topics

Humans
von Willebrand Factor
Female
Weibel-Palade Bodies
Mutation, Missense
Young Adult
HEK293 Cells
Protein Multimerization
Heterozygote
von Willebrand Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Exome Sequencing

Genetic Predisposition to Disease

Protein Domains

Protein Precursors

Source

Identifiers

PMID: 41192571
DOI: 10.1016/j.jtha.2025.10.017

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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