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 |
Context nucleotide sequence:
GCTGGCGAGTATGGTGCGGAGGCCC [C/T] GGAGAGGTGAGGCTCCCTCCCCTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEAPERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: This mutation results in an α+ allele. The severe phenotype of homozygotes suggests that this variant is extremely unstable.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-01-25 16:44:08 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.