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Article

The A312 Allele (c.280A>T) Is Responsible for the Weak A Phenotype.

Annals of clinical and laboratory science - 1 Jan 2017

Chun Sejong, Phan Minh-Trang, Kim Hyun-Young, Shin Dong-Jun, Seo Ji-Young, Kim Kyeong-Hee, Cho Duck

Abstract excerpt

The ABO*A312 allele was found in a 71-year-old Korean male with ABO discrepancy and in his two sons. Although the ABO*A312 allele (c.280A>T, I94F) in an AwB case was registered in GenBank, the impact of the I94F mutation of the ABO gene on the activity of A transferase has not been studied. Transient transfection experiments were performed in HeLa cells using A101, A102, and A312 alleles synthesized by...

Topics

ABO Blood-Group System
Aged
Alleles
Antigens
Female
Flow Cytometry
Genotype
Genotyping Techniques
Green Fluorescent Proteins
HeLa Cells
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Source

Identifiers

PMID: 28249926

Genes

ABO

Variants

Provenance

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The A312 Allele (c.280A>T) Is Responsible for the Weak A Phenotype.PMID 28249926Read ↗

A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene.Semantic proximity Read ↗

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Protein stability changes of the novel p.Arg180Cys mutant A glycosyltransferase resulted in a weak A phenotype.Semantic proximity Read ↗

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Two novel A alleles with c.322C>T or c.410C>T mutations on the ABO*A1.02 allele were identified in the Chinese individuals.Semantic proximity Read ↗

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