IthaID: 3406
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 69 GGT>GAT [Gly>Asp] | HGVS Name: | HBD:c.209G>A |
| Hb Name: | Hb A2-Gebenstorf | Protein Info: | δ 69(E13) Gly>Asp |
Context nucleotide sequence:
GGCTCATGGCAAGAAGGTGCTAG [G/A] TGCCTTTAGTGATGGCCTGGCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLDAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The δ-globin variant was found in a heterozygous state in a mother and her daughter of Swiss origin. The mother presented with normal blood counts and reduced HbA2 level (Hb 14.9 g/dL, MCV 89.9 fL, MCH 29.5 pg, HbA2 1.2%, HbF 0.5%). The daughter was also carrier of a deletional (εγ)δβ0-thal [ithaID=3606], presenting with a beta-thalassaemia minor phenotype (Hb 10.6 g/dL, MCV 61.0 fL, MCH 18.2 pg, HbA2 0%, HbF 0.7%). Variant was detected by HPLC; it is expected to move faster than HbA2 and thus to co-migrate with HbA.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-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: | 63519 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Swiss |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Saller E, Knijnenburg J, Harteveld CL, Dutly F, A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A)., Hemoglobin, 44(3), 214-217, 2020