IthaID: 1243



Names and Sequences

Functionality: Globin gene causative mutation
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:
AAAGAATTCACCCCACCAGTGCAGG [A/C/T] TGCCTATCAGAAAGTGGTGGCTGGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQDAYQKVVAGVANALAHKYH

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.

Location

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

Phenotype

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Benin, Chilean, Chinese, Cuban, Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.