IthaID: 724
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 117/118 +ATC [+Ile] | HGVS Name: | HBA1:c.354_355insATC |
| Hb Name: | Hb Phnom Penh | Protein Info: | I- inserted between codons 117(GH5) and 118(H1) of α1 |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38199 |
| Size: | 3 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Chinese, Cambodian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Zhai YS, Tang HS, Zhou JY, Li DZ, A novel case of Hb Phnom Penh: codons 117/118 (+ATC) as a cause of α+ -thalassemia., Hemoglobin , 36(3), 289-92, 2012
Created on 2010-06-16 16:13:16,
Last reviewed on 2017-01-24 12:56:16 (Show full history)
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