Analyzing 6211 unique variants in the upgraded interactive FVIII web database reveals novel insights into hemophilia A.

ABSTRACT: Hemophilia A is a rare genetic disease that occurs with mild, moderate, or severe phenotypes and involves dysfunctional or reduced amounts of plasma factor VIII (FVIII). Identifying causal genetic variants in the F8 gene is vital for patient care. Our original interactive MySQL database for FVIII in 2013 presented clinical data on 2014 unique FVIII variants in 5072 patients. Here, we expand our database almost threefold with a new total of 6211 unique FVIII variants in 10 064 patients, spanning 1529 of the 2351 FVIII residues (65%). We have also developed a new full-length FVIII structural model that incorporates both its crystal structure and its disordered B domain, which is not visible in available experimental structures. This enabled the assessment of these variants on FVIII. O

SUBMITTER: Print EHT 

PROVIDER: S-EPMC12320434 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature