IthaID: 1332
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 27 GCC>TCC [Ala>Ser] | HGVS Name: | HBD:c.82G>T |
Hb Name: | Hb A2-Yialousa | Protein Info: | δ 27(B9) Ala>Ser |
Context nucleotide sequence:
GAACGTGGATGCAGTTGGTGGTGAG [G/T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGESLGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
Allele Phenotype: | δ+ |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 63264 |
Size: | 1 bp |
Located at: | δ |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Greek, Greek Cypriot, Sardnian, Chinese, Tunisian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M, Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia., Blood, 72(2), 530-3, 1988 PubMed
- Loudianos G, Cao A, Ristaldi MS, Pirastu M, Tzeti M, Kannavakis E, Kattamis C, Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level., Blood , 75(2), 526-8, 1990 PubMed
- Trifillis P, Ioannou P, Schwartz E, Surrey S, Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis., Blood, 78(12), 3298-305, 1991 PubMed
- Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S, Analysis of delta-globin gene mutations in Greek cypriots., Blood, 82(5), 1647-51, 1993 PubMed
- De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C, Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features., Human mutation, 20(5), 358-67, 2002 PubMed
- Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013 PubMed
- Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A, Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations., Mol Biol Rep, 48(8), 5923-5933, 2021 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-12-29 15:11:08 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-05-16 13:24:16 | The IthaGenes Curation Team | Reviewed. Additional references and ClinVar link added |
4 | 2017-07-11 16:45:40 | The IthaGenes Curation Team | Reviewed. Other Details section updated. Reference added. |
5 | 2021-12-29 15:11:08 | The IthaGenes Curation Team | Reviewed. Reference and Ethnic origin added. |
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IthaGenes was last updated on 2024-12-12 10:33:52