IthaID: 3034
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 137 GTG>TGG [Val>Trp] | HGVS Name: | HBB:c.412_413delinsTG |
| Hb Name: | Hb Allentown | Protein Info: | N/A |
Also known as:
Comments: Hb Allentown is formed by a rare double nucleotide substitution within the same codon. The variant was unstable with both heat and isopropanol tests.
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: | 71986 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Puerto Rican |
| Molecular mechanism: | N/A |
| Inheritance: | N/A |
| 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
- Collier AB, Coon LM, Monteleone P, Umaru S, Swanson KC, Hoyer JD, Oliveira JL, A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly., Hemoglobin , 40(2), 130-3, 2016 PubMed
Created on 2016-08-26 13:50:53,
Last reviewed on 2018-02-06 18:47:15 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-26 13:50:53 | The IthaGenes Curation Team | Created |
| 2 | 2018-02-06 18:47:15 | The IthaGenes Curation Team | Reviewed. Added HbVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07