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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ACAAGCTGCACGTGGATCCTGAGAA [A/C/G] TTCAGGGTGAGTCTATGGGACGCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPEKFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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
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
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-07 14:32:40 (Show full history)
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