IthaID: 356
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 29 CTG>CCG [Leu>Pro] | HGVS Name: | HBA2:c.89T>C |
| Hb Name: | Hb Agrinio | Protein Info: | α2 29(B10) Leu>Pro |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCTGGCGAGTATGGTGCGGAGGCCC [C/T] GGAGAGGTGAGGCTCCCTCCCCTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEAPERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: This mutation results in an α+ allele. The severe phenotype of homozygotes suggests that this variant is extremely unstable.
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: | 33864 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Greek, Mediterranean, Romani |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Hall GW, Thein SL, Newland AC, Chisholm M, Traeger-Synodinos J, Kanavakis E, Kattamis C, Higgs DR, A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia., British journal of haematology, 85(3), 546-52, 1993 PubMed
- Dimishkovska M, Kuzmanovska M, Kocheva S, Martinova K, Karanfilski O, Stojanoski Z, Plaseska-Karanfilska D, First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia., Hemoglobin , 41(4), 308-310, 2017 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-01-25 16:44:08 (Show full history)
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