IthaID: 377
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 59 GGC>GAC [Gly>Asp] | HGVS Name: | HBA2:c.179G>A |
| Hb Name: | Hb Adana | Protein Info: | α2 59(E8) Gly>Asp |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGCTCTGCCCAGGTTAAGGGCCACG [A/G/T] CAAGAAGGTGGCCGACGCGCTGACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHDKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α+/α0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34071 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Southeast Asian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Chan V, Chan VW, Tang M, Lau K, Todd D, Chan TK, Molecular defects in Hb H hydrops fetalis., British journal of haematology, 96(2), 224-8, 1997
- Douna V, Papassotiriou I, Garoufi A, Georgouli E, Ladis V, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J, A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases., Hemoglobin, 32(4), 361-9, 2008
- Nainggolan IM, Harahap A, Ambarwati DD, Liliani RV, Megawati D, Swastika M, Setianingsih I, Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features., Hemoglobin, 37(3), 297-305, 2013
- Tan JAMA, Kho SL, Ngim CF, Chua KH, Goh AS, Yeoh SL, George E, DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia., Sci Rep, 6(0), 26994, 2016
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-09-18 12:46:12 (Show full history)
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