FUT1(A12V)

Structure

FUT1(A12V)

Key changes from standard allele

c.35C>T (Ala12Val)

ISBT allele designation

FUT1*02

Nucleotide changes relative to "standard FUT1"

c.35 C>T

Amino acid changes relative to standard protein

Ala to at codon la12Va

Ala12Val

ISBT group

Normal H activity

Phenotype characterization and grouping

Descriptions

First full publication: 2004 Guo ZH et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):417-21.

Other relevant descriptions:
The c.35C>T polymorphism is frequent in the Chinese population and not associated with weakened H expression. Xu XG et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):657-60.

Serology

Para-Bombay Guo ZH et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):417-21.
Normal H phenotype Xu XG et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):657-60.
52.7% H activity He YM et. al. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2010 Dec;18(6):1613-6.
79.45% activity Tao S et. al. Transfus Clin Biol. 2012 Feb;19(1):5-10. doi: 10.1016/j.tracli.2011.06.003. Epub

Observations

China (general): 4 of 20 alleles in 10 Chinese Para-Bombay; discrepancy to "h4" unresolved. Guo ZH et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Oct;21(5):417-21.
China (general): Among 158 Chinese with normal H phenotype, 8 were homoyzgous for 35T and 67 heterozygous (83 were C/C). Xu XG et. al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):657-60.
Styria: 1 of 200 alleles among Styrians with normal H phenotype Matzhold EM et. al. Transfusion. 2009 Oct;49(10):2097-108. doi: 10.1111/j.1537-2995.2009.02293.x.

Related Alleles

FUT1(A12V,C268F) [FUT1(A12V,C268F)]
FUT1(A12V,G90V) [FUT1(A12V,G90V)]
FUT1(A12V,M228T) [FUT1(A12V,M228T)]
FUT1(A12V,M228V) [FUT1(A12V,M228V)]
FUT1(A12V,N327T) [FUT1(A12V,N327T)]
FUT1(A12V,R220C) [FUT1(A12V,R220C)]
FUT1(A12V,R250W) [FUT1(A12V,R250W)]
FUT1(A12V,R88W) [FUT1(A12V,R88W)]
FUT1(A12V,T98M) [FUT1(A12V,T98M)]
FUT1(A12V,V257Ffs) [FUT1(A12V,V257Ffs*23)]
FUT1(A12V,W141X) [FUT1(A12V,W141X)]

Additional comments

This allele is sometimes referred as "h4", but the original "h4" desciripton is FUT1:c.[35C>T;980A>C]

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