IthaID: 886
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 24 GGT>GAT [Gly>Asp] | HGVS Name: | HBB:c.74G>A |
| Hb Name: | Hb Moscva | Protein Info: | β 24(B6) Gly>Asp |
Context nucleotide sequence:
GGCAAGGTGAACGTGGATGAAGTTG [A/G/T] TGGTGAGGCCCTGGGCAGGTTGGTA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVDGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70668 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Russian, Mauritanian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Idelson LI, Didkowsky NA, Casey R, Lorkin PA, Lehmann H, New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR., Nature, 249(459), 768-70, 1974
- Ghaber SM, Trabelsi N, Salem ML, Haddad F, Abba A, Darragi I, Abbes S, Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient., Hemoglobin , 2018
Created on 2010-06-16 16:13:16,
Last reviewed on 2018-04-03 18:11:39 (Show full history)
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