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Article

Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.

Scientific reports - 22 Mar 2017

Wei Wei, Zheng Chunlei, Zhu Min, Zhu Xiaofan, Yang Renchi, Misra Saurav, Zhang Bin

Abstract excerpt

Missense mutation is the most common mutation type in hemophilia. However, the majority of missense mutations remain uncharacterized. Here we characterize how hemophilia mutations near the unused N-glycosylation site of the A2 domain (N582) of FVIII affect protein conformation and intracellular trafficking. N582 is located in the middle of a short 310-helical turn (D580-S584), in which most amino acids have...

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Identifiers

PMID: 28327546
DOI: 10.1038/srep45033
PMCID: PMC5361195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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