FUT1(Y154H,E348K)

Structure

FUT1(Y154H,E348K)

Key changes from standard allele

1042G>A (Glu348Lys)
460T>C (Tyr154His)

ISBT allele designation

FUT1.01W.05.02

Nucleotide changes relative to "standard FUT1"

c.[460 T>C;1042 G>A]

Amino acid changes relative to standard protein

Tyr154His, Glu348Lys

ISBT group

weak FUT1 activity

Phenotype characterization and grouping

Para-Bombay; H weak

Descriptions

First full publication: 1997 Wang B et. al. Vox Sang. 1997;72(1):31-5. doi: 10.1046/j.1423-0410.1997.00031.x.

Other relevant descriptions:
Kaneko M et. al. Blood. 1997 Jul 15;90(2):839-49.

Serology

Para-Bombay; H-deficient secretor. FUT1 in expression study inactive Wang B et. al. Vox Sang. 1997;72(1):31-5. doi: 10.1046/j.1423-0410.1997.00031.x.
Para-Bombay, weak residual activity in expression experiment Kaneko M et. al. Blood. 1997 Jul 15;90(2):839-49.

Observations

Japan (general): Wang B et. al. Vox Sang. 1997;72(1):31-5. doi: 10.1046/j.1423-0410.1997.00031.x.
Japan (general): Kaneko M et. al. Blood. 1997 Jul 15;90(2):839-49.

Additional comments

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