IthaID: 3308
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 115-116 (-CC, +G) >156aa | HGVS Name: | HBB:c.348_349delinsG |
| Hb Name: | Hb Grand Junction | Protein Info: | N/A |
Also known as:
Comments: Frameshift mutation that extends the protein by 10 residues to amino acid 156.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71922 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Hispanic |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Kent MW, Oliveira JL, Hoyer JD, Swanson KC, Kluge ML, Dawson DB, Liang X, Winkler TJ, Breaux CW, LaCount R, Silliman CC, Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant., Hemoglobin , 38(1), 8-12, 2014
Created on 2018-02-06 19:37:45,
Last reviewed on (Show full history)
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