FUT1(881_882delTT)

Structure

FUT1(F294Cfs*40)

Key changes from standard allele

c.881_882del (Phe294CysfsTer40)

ISBT allele designation

FUT1*01N.13

Nucleotide changes relative to "standard FUT1"

c.881 delTT

Amino acid changes relative to standard protein

Pro to at codon he294CysfsTer4

Phe294CysfsTer40

ISBT group

FUT1 negative

Phenotype characterization and grouping

Para-Bombay

Descriptions

First submission to GenBank: 2017 KX852450 (submitted 2016-09-12, released 2017-05-31)

First full publication: 2017 Qiao H & et al.A novel truncated protein of FUT1 with weak function was identifiedin one Chinese individual Asia Pac J Blood Types Genes 2017; 1(1):65-66

Other relevant descriptions:
Liang W et. al. Iran J Public Health. 2018 Aug;47(8):1128-1136.

Serology

Am like phenotype Qiao H & et al.A novel truncated protein of FUT1 with weak function was identifiedin one Chinese individual Asia Pac J Blood Types Genes 2017; 1(1):65-66
Para-Bombay Liang W et. al. Iran J Public Health. 2018 Aug;47(8):1128-1136.

Observations

China (general): Qiao H & et al.A novel truncated protein of FUT1 with weak function was identifiedin one Chinese individual Asia Pac J Blood Types Genes 2017; 1(1):65-66
China (general): 4 of 18 alleles in 9 para-Bombay in Guandong. Associated with Se357,716 Luo G et. al. Transfusion. 2013 Dec;53(12):3224-9. doi: 10.1111/trf.12183. Epub 2013 Apr 8.
China (general): 10 of 34 alleles in 17 Chinese para-Bombay Cai XH et. al. Blood Transfus. 2011 Oct;9(4):466-8. doi: 10.2450/2011.0115-10. Epub 2011 Jun 15.
China (general): Case report (Compound heterozygote) Ma KR et. al. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Feb;19(1):223-6.
China (general): 4 of 14 alleles in 7 Chinese para-Bombay Su Yq et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Oct;24(5):520-3.
China (general): 6 of 20 alleles in 10 Chinese Para-Bombay Guo ZH et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):417-21.
China (general): present in 5 of 5 para-Bombay individuals (homozygous in 1) Yip SP et. al. Vox Sang. 2002 Oct;83(3):258-62. doi: 10.1046/j.1423-0410.2002.00184.x.
China (general): Liang W et. al. Iran J Public Health. 2018 Aug;47(8):1128-1136.
China (general): Associated with Se357,716 Zhang A et. al. Blood Transfus. 2015 Jul;13(3):472-7. doi: 10.2450/2015.0185-14. Epub 2015 Jan
Taiwan: 23 of 60 alleles in Taiwanes Para-Bombay Chen DP et. al. Ann Clin Lab Sci. 2004 Summer;34(3):314-8.

Additional comments

The authors suggest a "weakened function" of FUT 1 but data would best fit with a H-deficient secretor. Associated with Se357,716

Last update: 2020-03-17 (yyyy-MM-dd)