IthaID: 1233



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 126 GTG>GCG HGVS Name: HBB:c.380T>C
Hb Name: Hb Beirut Protein Info: β 126(H4) Val>Ala

Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCACCAG [T>C] GCAGGCTGCCTATCAGAAAGTGGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPAQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Neutral amino acid substitution in the beta chain. Valine at residue 126 occupies a surface crevice of the H alpha-helix and is not involved in interchain or heme bonding. Detectable by reverse-phase HPLC, and by IEF (in one case). No separation in other electrophoretic systems. Found in a family of Lebanese origin; the variant β-chain accounted for 44% of total beta-globin in the subject, his mother, and sister (range 42 to 46 percent). None of the three individuals was anemic or exhibited any abnormal hematological features. Normal isopropanol test for hemoglobin stability. Normal red blood cell O2 binding[PMID: 6879181]. Found in an Algerian Kabyl family living in France. The two carriers were clinically normal; the Hb A2 and Hb Flevels, the results of the isopropanol test, and P50 values were within normal ranges. The variant was present for 45% of the total Hb level [PMID: 3557996].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71954
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Lebanese, Algerian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ganten D, Hermann K, Bayer C, Unger T, Lang RE, Angiotensin synthesis in the brain and increased turnover in hypertensive rats., Science (New York, N.Y.), 221(4613), 869-71, 1983 PubMed
  2. Strahler JR, Rosenbloom BB, Hanash SM, A silent, neutral substitution detected by reverse-phase high-performance liquid chromatography: hemoglobin Beirut., Science, 221(4613), 860-2, 1983 PubMed
  3. Blibech R, Mrad H, Kastally R, Brissart MA, Potron G, Arous N, Riou J, Blouquit Y, Bardakdjian J, Lacombe C, Hemoglobin Beirut [alpha 2 beta 2(126)(H4)Val----Ala] in an Algerian family., Hemoglobin, 10(6), 651-4, 1986 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2022-11-25 12:47:50 (Show full history)

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