FUT1(L242R)

Structure

FUT1(L242R)

Key changes from standard allele

725T>G (Leu242Arg)

ISBT allele designation

FUT1*01N.09

Nucleotide changes relative to "standard FUT1"

c.725 T>G

Amino acid changes relative to standard protein

Leu to at codon eu242Ar

Leu242Arg

ISBT group

FUT1 negative

Phenotype characterization and grouping

Bombay

Descriptions

First full publication: 1997 Koda Y et. al. Biochem Biophys Res Commun. 1997 Sep 8;238(1):21-5. doi: 10.1006/bbrc.1997.7232.

Other relevant descriptions:
Fernandez-Mateos P et. al. Vox Sang. 1998;75(1):37-46.

Serology

Bombay Fernandez-Mateos P et. al. Vox Sang. 1998;75(1):37-46.
Bombay Koda Y et. al. Biochem Biophys Res Commun. 1997 Sep 8;238(1):21-5. doi: 10.1006/bbrc.1997.7232.

Observations

India (general): Main "Bombay" allele in India / linked to deletion of FUT2 Fernandez-Mateos P et. al. Vox Sang. 1998;75(1):37-46.
India (general): "classical" Indian Bobay phenotype Koda Y et. al. Biochem Biophys Res Commun. 1997 Sep 8;238(1):21-5. doi: 10.1006/bbrc.1997.7232.

Additional comments

The allele occurs in cis with a FUT2 deletion (Koda Y et al)

Last update: 2020-03-16 (yyyy-MM-dd)