IthaID: 4098
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 86 CTG>CCG [Leu>Pro] | HGVS Name: | HBA1:c.260T>C |
| Hb Name: | Hb Thessaloniki | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AACGCGCTGTCCGCCCTGAGCGACC [T>C] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDPHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Heterozygote with 14g/dL Hb, 42.9% HCT, 5.77x10^6/uL RBC, 24.2pg MCH, 74.2fL MCV, 14.3% RDW, 1.8% HbA2, 154ng/mL serum ferritin, and inclusion bodies (+). Mild microcytic and hypochromic erythrocyte indices. No abnormal Hb variant detected in HPLC analysis. Positive isopropanol precipitation test. The Leu>Pro replacement occurs next to the heme binding proximal histidine, probably affecting the stability of the protein.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37956 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Northern Greece (Macedonia), |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Boutou, Effrossyni | 2024-05-01 | First report. |