IthaID: 1390
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 136 GGT>GAT [Gly>Asp] | HGVS Name: | HBD:c.410G>A |
| Hb Name: | Hb A2-Babinga | Protein Info: | δ 136(H14) Gly>Asp |
Context nucleotide sequence:
GCTGCCTATCAGAAGGTGGTGGCTG [A/G] TGTGGCTAATGCCCTGGCTCACAAG (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVADVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64618 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- de Jong WW, Bernini LF, Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant., Nature, 219(5161), 1360-2, 1968 PubMed
- Huisman TH, Reynolds CA, Dozy AM, Wilson JB, Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro., Biochim. Biophys. Acta , 175(1), 223-5, 1969 PubMed
- McRoyan DK, Liu PI, Mankad VN, Wilson JB, Huisman TH, Hb A2-Babinga, Hb S, and HPFH in members of a family from Creola, Alabama., Hemoglobin , 8(4), 413-6, 1984 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-05-02 09:23:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-05-02 09:23:25 | The IthaGenes Curation Team | Reviewed. Added references and ClinVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07