Literature DB >> 849451

Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp). A new fast unstable haemoglobin found in a Cuban family.

G Martínez, F Lima, B Colombo.   

Abstract

Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp) was found during a screening from abnormal haemoglobins in three members of a Cuban family, of negro ancestry. The substitution in this variant is located at the alpha 1 beta 1 contact. This explains the slight instability and the mild haemolytic anaemia and morphological abnormalities found in the carriers of this variant. The instability of haemoglobin J Guantanamo indicates that the presence of Asp at the position beta-128 (H6) weakens the alpha 1 beta 1 contact.

Entities:  

Mesh:

Substances:

Year:  1977        PMID: 849451     DOI: 10.1016/0005-2795(77)90034-4

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  4 in total

1.  Permanence or change? The meaning of genetic variation.

Authors:  F M Salzano
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-09       Impact factor: 11.205

Review 2.  Hemoglobin variants: biochemical properties and clinical correlates.

Authors:  Christopher S Thom; Claire F Dickson; David A Gell; Mitchell J Weiss
Journal:  Cold Spring Harb Perspect Med       Date:  2013-03-01       Impact factor: 6.915

3.  Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers.

Authors:  Philippe E Thomas; Roman Klinger; Laura I Furlong; Martin Hofmann-Apitius; Christoph M Friedrich
Journal:  BMC Bioinformatics       Date:  2011-07-05       Impact factor: 3.169

Review 4.  Computational approaches for predicting variant impact: An overview from resources, principles to applications.

Authors:  Ye Liu; William S B Yeung; Philip C N Chiu; Dandan Cao
Journal:  Front Genet       Date:  2022-09-29       Impact factor: 4.772

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.