IthaID: 3593
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 90 GAG>GCG [Glu>Ala] | HGVS Name: | HBB:c.272A>C |
| Hb Name: | Hb Shenzhen | Protein Info: | β 90(F6)Glu>Ala |
Context nucleotide sequence:
AAGGGCACCTTTGCCACACTGAGTG [A>C] GCTGCACTGTGACAAGCTGCACGTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSALHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a 52-year old Chinese individual during routine health check. Negative result with isopropanol solubility test. It is located near the heme-linked proximal histidine (His92) and between two of the hydrophobic residues of the heme pocket: Leu88 and Leu91.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
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: | 70996 |
| 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: | Chinese |
| 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
- Xu AP, Li J, Chen WD, Zhou Y, Zheng RY, Ji L, A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C]., Hemoglobin, 42(3), 196-198, 2018 PubMed
Created on 2020-05-22 19:09:18,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-05-22 19:09:18 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07