IthaID: 343
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Init CD ATG>A-G | HGVS Name: | HBA2:c.2delT |
| Hb Name: | N/A | Protein Info: | α2 Initiation codon Met->0 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCACAGACTCAGAGAGAACCCACCA [-/T] GGTGCTGTCTCCTGCCGACAAGACC (Strand: +)
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: | 33777 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Initiation codon (Translation) |
| Ethnic Origin: | Vietnamese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Waye JS, Eng B, Patterson M, Chui DH, Nisbet-Brown E, Olivieri NF, Novel mutation of the alpha 2-globin gene initiation codon (ATG-->A-G) in a Vietnamese girl with Hb H disease., Hemoglobin, 21(5), 469-72, 1997
- Viprakasit V, Chinchang W, Glomglao W, Tanphaichitr VS, A rare association of alphaO-thalassemia (--SEA) and an initiation codon mutation (ATG-->A-G) of the alpha2 gene causes Hb H disease in Thailand., Hemoglobin , 29(3), 235-40, 2005
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-05-19 09:25:58 (Show full history)
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