IthaID: 2023
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 117 TTC>TCC [Phe>Ser] | HGVS Name: | HBA2:c.353T>C |
| Hb Name: | Hb Foggia | Protein Info: | α2 117(GH5) Phe>Ser |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAESTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Replacement of Phe residue at position α117 (GH5) by a charged arginine residue, which disrturbs the α1β1 contact and also impairs interaction with AHSP, thus leading to the α chain pool reduction and to the α-thalassemia phenotype. No unstable haemoglobins and no erythrocyte inclusion bodies have been documented. Detected in a family from Foggia, Southern Italy, with α-thalassemia haematologic phenotype (microcythemia).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ Thalassaemia |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34387 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacerra G, Scarano C, Musollino G, Flagiello A, Pucci P, Carestia C., Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction., Haematologia, 93(1), 141-2, 2008
- Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013