IthaID: 800
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 2 CAT>CAA or CAG | HGVS Name: | HBB:c.9T>A | HBB:c.9T>G |
| Hb Name: | Hb Okayama | Protein Info: | β 2(NA2) His>Gln |
Context nucleotide sequence:
CGGCAGACTTCTCCTCAGGAGTCAG [A/C/G/T] TGCACCATGGTGTCTGTTTGAGGTT (Strand: -)
Protein sequence:
MVQLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70603 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harano T, Harano K, Shibata S, Ueda S, Mori H, Arimasa N, Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid residue at the 2,3-diphosphoglycerate binding site., FEBS letters, 156(1), 20-2, 1983
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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