IthaID: 3617
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 5 CCT>ACT [Pro>Thr] | HGVS Name: | HBD:c.16C>A |
| Hb Name: | Hb A2-Partinico | Protein Info: | δ 5(A2)Pro>Thr |
Context nucleotide sequence:
AGACACCATGGTGCATCTGACT [C>A] CTGAGGAGAAGACTGCTGTCAA (Strand: -)
Protein sequence:
MVHLTTEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in cis to the allele β+ thal IVS-I-110 G>A in five members of a Sicilian family. Detected by HPLC; overlaps HbA2 peak which is partially split. The residue 5(A2) of the δ-globin chain is in the alpha helix region; no functional alteration was predicted.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63198 |
| 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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacerra G, Scarano C, Musollino G, Testa R, Prezioso R, Caruso DG, Lagona LF, Medulla E, Friscia MG, Gaudiano C, Carestia C, HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects., Ann. Hematol., 89(2), 127-34, 2010
Created on 2020-09-07 14:40:21,
Last reviewed on 2023-01-27 12:09:04 (Show full history)
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