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:
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.
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: | 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
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
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-05-04 13:14:56 (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 | 2018-04-17 09:41:15 | The IthaGenes Curation Team | Reviewed. Location corrected |
| 4 | 2020-04-29 22:21:42 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. HGVS name and comment added. |
| 5 | 2020-04-30 16:36:42 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
| 6 | 2020-05-04 13:14:56 | The IthaGenes Curation Team | Reviewed. Specific location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07