IthaID: 4112
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 38 ACC>GCC [Thr>Ala] | HGVS Name: | HBB:c.115A>G |
| Hb Name: | Hb Oviedo | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TAGGCTGCTGGTGGTCTACCCTTGG [A>G] CCCAGAGGTTCTTTGAGTCCTTTGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWAQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: The c.115A>G variant (CD 38 ACC>GCC) is a missense variant in the HBB gene predicted to cause substitution of threoning (ACC) to alanine (GCC) at position β 38(C4) Thr>Ala. It was first reported in a family with isolated low oxygen saturation (82-92%).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70839 |
| 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: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Vega López L, Medina A, Gil-Peña H, Fonseca Mourelle A, Gutiérrez Martínez JR, Hemoglobin Oviedo (): A Cause of Low Oxygen Saturation., Hemoglobin, 48(3), 192-195, 2024 PubMed
Created on 2024-10-29 15:54:35,
Last reviewed on 2024-10-29 15:59:14 (Show full history)
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