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
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
- 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
- Ohba Y, Unstable hemoglobins., Hemoglobin , 14(4), 353-88, 1990
- Phyliky RL, Fairbanks VF, Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln., Am. J. Hematol. , 55(1), 53, 1997
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-10-24 10:19:29 (Show full history)
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