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
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
Created on 2020-05-22 19:09:18,
Last reviewed on (Show full history)
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