IthaID: 3918
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 37 TGG>TTG [Trp>Leu] | HGVS Name: | HBB:c.113G>T |
| Hb Name: | Hb Alessandria | Protein Info: | β 37(C3) Trp>Leu |
Context nucleotide sequence:
CTTAGGCTGCTGGTGGTCTACCCTT [G/T] GACCCAGAGGTTCTTTGAGTCCTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPLTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a case with normal haematological indices and no clinical complications. Protein stability was normal and oxygen affinity was found to be slightly increased. Hb variant was detected by capillary electrophoresis during the measurement of HbA1c with the relative amount of Hb Alessandria being 39.9%. Hb variant did not separate from HbA using HPLC method.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70837 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
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
Sequence Viewer
Publications / Origin
- Calcagno L, Ciriello MM, Maccarini M, Mogni M, Maffei M, Barberio G, Maoggi S, Coviello D, Ivaldi G, Hb Alessandria [β37(C3)Trp→Leu; : c.113G>T]: a Novel Variant on the -Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis., Hemoglobin, 46(4), 240-244, 2022 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Maffei, Massimo | 2022-04-28 | First report. |
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-05-02 11:43:56 | The IthaGenes Curation Team | Created |
| 2 | 2022-05-02 11:45:51 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 3 | 2023-03-08 12:06:57 | The IthaGenes Curation Team | Reviewed. Reference added. |