IthaID: 1331
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 4 ACT>ATT [Thr>Ile] | HGVS Name: | HBD:c.14C>T |
| Hb Name: | N/A | Protein Info: | delta 4(A1) Thr>Ile |
Context nucleotide sequence:
CAAACAGACACCATGGTGCATCTGA [C>T] TCCTGAGGAGAAGACTGCTGTCAAT (Strand: -)
Protein sequence:
MVHLIPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as: HbA2-Mitsero
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
| Allele Phenotype: | δ+ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63196 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Greek Cypriot, Chinese, Sicilian |
| 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
- 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
- Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, Maggio A, Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations., Haematologica, 91(12), 1681-4, 2006 PubMed
- Lacerra G, Scarano C, Lagona LF, Testa R, Caruso DG, Medulla E, Friscia MG, Mastrullo L, Caldora M, Prezioso R, Gaudiano C, Magnano C, Romeo MA, Musollino G, Di Noce F, Carestia C, Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes., Hemoglobin, 34(5), 407-23, 2010 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-01-27 11:53:50 (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 17:27:30 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-05-16 13:18:11 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. |
| 4 | 2017-07-11 16:46:17 | The IthaGenes Curation Team | Reviewed. Other Details section updated. Reference added. |
| 5 | 2023-01-27 11:47:19 | The IthaGenes Curation Team | Reviewed. Reference, Ethnic origin and Synonym name added. |
| 6 | 2023-01-27 11:53:50 | The IthaGenes Curation Team | Reviewed. Referece |
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IthaGenes was last updated on 2024-11-20 13:24:07