IthaID: 3916
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 15 GGT>TGT [Gly>Cys] | HGVS Name: | HBA2:c.46G>T |
| Hb Name: | Hb Orbassano | Protein Info: | α2 15(A13) Gly>Cys |
Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/T] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWCKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a healthy heterozygous patient presented with Hb 12.6 g/dL, MCV 83 fL, MCH 31.5 pg and RBC 4.8 10^12/L. Capillary electrophoresis shown that the HbX variant migrated in zone 13 with HbX level 13.1% and HbA2 2.5%. No separation of HbX and HbA found with HPLC analysis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33821 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian |
| 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To the best of our knowledge, this is unpublished data.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 | Mandrile, Giorgia | 2022-04-07 | First report. |
| 2 | Nicolò , Cinzia | 2022-04-07 | First report. HPLC and capillary electrophoresis analyses |
| 3 | Curcio , Cristina | 2022-04-07 | First report. Molecular analysis |