IthaID: 1023
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 67 GTG>GGG [Val>Gly] | HGVS Name: | HBB:c.203T>G |
| Hb Name: | Hb Manukau | Protein Info: | β 67(E11) Val>Gly |
Context nucleotide sequence:
AAGGTGAAGGCTCATGGCAAGAAAG [A/C/G/T] GCTCGGTGCCTTTAGTGATGGCCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKGLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70927 |
| 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: | Maori, Niuean |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Fay KC, Brennan SO, Costello JM, Potter HC, Williamson DA, Trent RJ, Ockelford PA, Boswell DR, Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia., British journal of haematology, 85(2), 352-5, 1993 PubMed
- Kumar MK, Judd C, Hoyer JD, Swanson KC, Nelson L, Oliveira JL, Hb Manukau [β67(E11)Val → Gly; HBB: c.203T>G]: The Role of Genetic Testing in the Diagnosis of Idiopathic Hemolytic Anemia., Hemoglobin , 2014 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-22 12:15:05 (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 | 2014-04-22 12:13:44 | The IthaGenes Curation Team | Reviewed. Added reference and ClinVar link. |
| 4 | 2014-04-22 12:15:05 | The IthaGenes Curation Team | Reviewed. Corrected common name. |
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IthaGenes was last updated on 2024-11-20 13:24:07