IthaID: 405
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 116 GAG>TAG | HGVS Name: | HBA2:c.349G>T |
| Hb Name: | N/A | Protein Info: | α2 116(GH4) Glu>Stop |
Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [A/C/G/T] AGTTCACCCCTGCGGTGCACGCCTC (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34383 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liebhaber SA, Coleman MB, Adams JG, Cash FE, Steinberg MH, Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG)., The Journal of clinical investigation, 80(1), 154-9, 1987
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-08 17:36:24 (Show full history)
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