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
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
Created on 2016-08-26 13:50:53,
Last reviewed on 2018-02-06 18:47:15 (Show full history)
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