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
Publications / Origin
- 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
- 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
- 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