IthaID: 2208
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 24 TAT>TAG | HGVS Name: | HBA2:c.75T>G |
| Hb Name: | N/A | Protein Info: | α2 24(B5) Tyr>Stop |
Context nucleotide sequence:
AGGTCGGCGCGCACGCTGGCGAGTA [G/T] GGTGCGGAGGCCCTGGAGAGGTGAG (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: | 33850 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL, Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening., Hemoglobin , 34(4), 354-65, 2010
Created on 2013-10-02 10:37:38,
Last reviewed on 2014-04-09 10:22:53 (Show full history)
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