IthaID: 1124
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 95/96 (+15 bp) | HGVS Name: | HBB:c.274_288dup |
| Hb Name: | Hb Koriyama | Protein Info: | Leu-His-Cys-Asp-Lys- inserted between codons 95(FG2) and 96(FG3) of β |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a Japanese girl with very severe, chronic hemolytic anemia. The unstable hemoglobin caused by a 15-bp duplication involving 5 tandemly repeated amino acids.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70998 |
| Size: | 15 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kawata R, Ohba Y, Yamamoto K, Miyaji T, Makita R, Ohga K, Watanabe S, Miwa S, Hyperunstable hemoglobin Koriyama anti-Hb Gun Hill insertion of five residues in the beta chain., Hemoglobin, 12(4), 311-21, 1988
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-05-04 13:14:56 (Show full history)
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