Genetic analysis and protein modeling evaluation of a novel <scp><i>FUT1</i></scp> variant c.<scp>683T</scp>>C (p.<scp>Met228Thr</scp>) in a Chinese individual with para‐Bombay phenotype
A novel FUT1 variant that may result in substantially reduced activity of alpha-1,2-fucosyltransferase T1 (α2FucT1) was identified, and computational evaluation indicated that Met228 was a critical site for the function of α2FucT1, which was also supported by two already published defective alleles FUT1*01W.12 (c.682A>G, p.Met228Val) and FUT1*01N.18 (c.684G>A, p.Met228Ile).
Authors
- Yunlei He (ORCID: https://orcid.org/0000-0003-2929-5554)
- Jiwei Zhang (ORCID: https://orcid.org/0000-0003-1932-1288)
- Yu Lu (ORCID: https://orcid.org/0000-0003-3944-1252)
- Yiyu Liu (ORCID: https://orcid.org/0009-0007-7811-3290)
- Di Niu
Institutions
- University of Nottingham Ningbo China (CN)
Publication Details
- Journal
- Transfusion
- Published
- 2025-06-11
- DOI
- https://doi.org/10.1111/trf.18293
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00