IthaID: 3065
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 86 GCC>ACC [Ala>Thr] | HGVS Name: | HBB:c.259G>A |
| Hb Name: | Hb Seoul | Protein Info: | N/A |
Context nucleotide sequence:
TGGACAACCTCAAGGGCACCTTT [G>A] CCACACTGAGTGAGCTGCACTGTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFTTLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a heterozygous state in a Korean male presenting with erythrocytosis. No mutations found in JAK2, BPGM, EGLN1, EPAS, EPOR and VHL genes. β86(F2) is a critical haemoglobin residue that affects the oxygen affinity
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70983 |
| 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: | Korean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| 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
- Shin SY, Bang SM, Kim HJ, A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A)., Ann. Clin. Lab. Sci. , 46(3), 312-4, 2016 PubMed
Created on 2016-09-06 12:10:10,
Last reviewed on 2019-11-15 12:54:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-06 12:10:10 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-06 12:13:27 | The IthaGenes Curation Team | Reviewed. dbSNP added. |
| 3 | 2019-11-15 12:54:08 | The IthaGenes Curation Team | Reviewed. Allele and Context sequence added. Allele phenotype corrected. Comment edited. |
| 4 | 2019-11-15 12:54:44 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07