IthaID: 1243

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 128 GCT>GAT [Ala>Asp] HGVS Name: HBB:c.386C>A
Hb Name: Hb J-Guantanamo Protein Info: β 128(H6) Ala>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Asp is a negatively charged group in a site normally occupied by a hydrophobic residue. As a result, the presence of Asp at the position β128 (H6) weakens the α1β1 contact between Leu residue 34 and Gly residue 35 of the α-chain. Alteration of the α1β1 interface inhibits dimer formation with subsequent accumulation of free globin subunits. Hb J-Guantanamo is slightly unstable with a high number of target cells in the peripheral blood and reduced osmotic fragility.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71960
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Benin, Chilean, Chinese, Cuban, Japanese
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Martínez G, Lima F, Colombo B, Haemoglobin J Guantanamo (alpha 2 beta 2 128 (H6) Ala replaced by Asp). A new fast unstable haemoglobin found in a Cuban family., Biochimica et biophysica acta, 491(1), 1-6, 1977 PubMed
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-06-20 09:14:02 (Show full history)

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