The p.R168Q mutation is associated with the Bwphenotype and a predicted decrease in the stability of the resulting ABO glycosyltransferase-Reference-Cited by-同舟云学术

The p.R168Q mutation is associated with the Bwphenotype and a predicted decrease in the stability of the resulting ABO glycosyltransferase

Published:2013-10-28 Issue:5 Volume:54 Page:1298-1304
ISSN:0041-1132
Container-title:Transfusion
language:en
Short-container-title:Transfusion

Author:

Lee Seung Yeob¹,Ihm Chunhwa²,Shin Dong-Jun¹,Lee Ho-Jin³,Yazer Mark Harris⁴⁵,Kim Seung Yeon⁶,Shin Myung Geun¹,Shin Jong Hee¹,Suh Soon Pal¹,Ryang Dong Wook¹,Cho Duck¹

Affiliation:

1. Department of Laboratory Medicine; Chonnam National University Medical School; Gwangju South Korea

2. Department of Laboratory Medicine; Eulji University College of Medicine; Daejeon South Korea

3. Department of Structural Biology; St Jude Children's Research Hospital; Memphis Tennessee

4. Department of Pathology; University of Pittsburgh; Pittsburgh Pennsylvania

5. Institute for Transfusion Medicine; Pittsburgh Pennsylvania

6. Department of Pediatrics, Eulji University Hospital; Eulji University College of Medicine; Daejeon South Korea

Publisher

Wiley

Subject

Hematology,Immunology,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/trf.12461/fullpdf

Reference20 articles.

1. Weak A phenotypes associated with novel ABO alleles carrying the A2-related 1061C deletion and various missense substitutions;Hult;Transfusion,2010

2. Amino-acid substitution in the disordered loop of blood group B-glycosyltransferase enzyme causes weak B phenotype;Yazer;Transfusion,2005

3. Structural basis for red cell phenotypic changes in newly identified, naturally occurring subgroup mutants of the human blood group B glycosyltransferase;Hosseini-Maaf;Transfusion,2007

4. Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif;Persson;J Biol Chem,2007

5. Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes;Seltsam;Transfusion,2005

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1. A novel FUT1*c.889C>T allele associated with the para‐Bombay AB phenotype and computational evaluation of the mutation effect;Transfusion;2023-02-28

2. Mechanism evaluation for an amino acid substitution p.Y246C of B‐glycosyltransferase enzyme with Bweak phenotype;Vox Sanguinis;2020-12-16

3. The novel missense variant c.350G>T on the ABO * B.01 allele associated with a B el phenotype;Transfusion;2020-09-22

4. An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene;Transfusion;2017-06-26

5. Protein stability changes of the novel p.Arg180Cys mutant A glycosyltransferase resulted in a weak A phenotype;Vox Sanguinis;2016-08-18