IthaID: 1131
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 98 GTG>ATG [Val>Met] | HGVS Name: | HBB:c.295G>A |
| Hb Name: | Hb Köln | Protein Info: | β 98(FG5) Val>Met |
Context nucleotide sequence:
TGAGCTGCACTGTGACAAGCTGCAC [A/G/T] TGGATCCTGAGAACTTCAGGGTGAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHMDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb San Francisco (Pacific), Hb Ube-1
Comments: Autosomal domiant variant for unstable hemoglobin disease (MONDO:0020459).
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71019 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Worldwide |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
- Pribilla W, Klesse P, Betke K, Lehmann H, Beale D, [Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly], Klinische Wochenschrift, 43(19), 1049-53, 1965 PubMed
- Carrell RW, Lehmann H, Hutchison HE, Haemoglobin Köln (beta-98 valine--methionine): an unstable protein causing inclusion-body anaemia., Nature , 210(5039), 915-6, 1966 PubMed
- Ohba Y, Unstable hemoglobins., Hemoglobin , 14(4), 353-88, 1990 PubMed
- Phyliky RL, Fairbanks VF, Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln., Am. J. Hematol. , 55(1), 53, 1997 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-10-24 10:19:29 (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 | 2014-04-24 16:58:25 | The IthaGenes Curation Team | Reviewed. Added ClinVar link, references and clinical phenotype. |
| 4 | 2022-10-24 10:19:29 | The IthaGenes Curation Team | Reviewed. Inheritance corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07