IthaID: 91
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 27 GCC>TCC [Ala>Ser] | HGVS Name: | HBB:c.82G>T |
| Hb Name: | Hb Knossos | Protein Info: | β 27(B9) Ala>Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GAACGTGGATGAAGTTGGTGGTGAG [G>T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGESLGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β+ Thalassaemia |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70676 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing), Missense codons (Protein Structure) |
| Ethnic Origin: | Mediterranean, Algerian, Egyptian, Jordan, Tunisian, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J, Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia., FEBS letters, 147(2), 247-50, 1982
- Fessas P, Loukopoulos D, Loutradi-Anagnostou A, Komis G, 'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia., British journal of haematology, 51(4), 577-83, 1982
- Orkin SH, Antonarakis SE, Loukopoulos D, Abnormal processing of beta Knossos RNA., Blood, 64(1), 311-3, 1984
- Baklouti F, Dorléac E, Morlé L, Laselve P, Peyramond D, Aubry M, Godet J, Delaunay J, Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia., Blood, 67(4), 957-61, 1986
- Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Thein SL, A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families., British journal of haematology, 78(3), 430-6, 1991
Created on 2010-06-16 16:13:14,
Last reviewed on 2024-03-07 10:55:10 (Show full history)
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