IthaID: 1066
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 79 GAC>GGC [Asp>Gly] | HGVS Name: | HBB:c.239A>G |
| Hb Name: | Hb G-Hsi-Tsou | Protein Info: | β 79(EF3) Asp>Gly |
Context nucleotide sequence:
TTTAGTGATGGCCTGGCTCACCTGG [A/G] CAACCTCAAGGGCACCTTTGCCACA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLGNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70963 |
| 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, Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Blackwell RQ, Shih TB, Wang CL, Liu CS, Hemoglobin G Hsi-Tsou: 79 Asp to Gly., Biochimica et biophysica acta, 257(1), 49-53, 1972
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-07-12 16:04:59 (Show full history)
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