IthaID: 1154
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 102 AAC>AAA or AAG | HGVS Name: | HBB:c.309C>A | HBB:c.309C>G |
| Hb Name: | Hb Richmond | Protein Info: | β 102(G4) Asn>Lys |
Context nucleotide sequence:
ACAAGCTGCACGTGGATCCTGAGAA [A/C/G] TTCAGGGTGAGTCTATGGGACGCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPEKFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71033 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| Molecular mechanism: | Altered α1β1 interface |
| 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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Publications / Origin
- Efremov GD, Huisman TH, Smith LL, Wilson JB, Kitchens JL, Wrightstone RN, Adams HR, Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins., The Journal of biological chemistry, 244(22), 6105-16, 1969 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-07 14:32:40 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-03-07 14:32:40 | The IthaGenes Curation Team | Reviewed. Link added |
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IthaGenes was last updated on 2024-11-20 13:24:07