IthaID: 673
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 94 GAC>TAC [Asp>Tyr] | HGVS Name: | HBA2:c.283G>T |
| Hb Name: | Hb Setif | Protein Info: | α2 94(G1) Asp>Tyr |
Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVYPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34175 |
| 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: | Algerian, Iranian, Lebanese, Saudi Arabian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 608 | Hb Setif | α2 | D-10 | Dual Kit Program | 11.3 | 4.4 | Heterozygote. | [PDF] | |
| 603 | Hb Setif | α2 | D-10 | Dual Kit Program | 3.5 | 1.43 | Heterozygote. Elutes with HbA. | [PDF] | |
| 609 | Hb Setif | α2 | VARIANT | β-thal Short Program | 14.5 | 4.66 | Heterozygote. | [PDF] | |
| 604 | Hb Setif | α2 | VARIANT | β-thal Short Program | 3.5 | 1.6 | Heterozygote. Elutes with HbA. | [PDF] | |
| 611 | Hb Setif | α2 | VARIANT II | Dual Kit Program | 10.4 | 3.908 | Heterozygote. | [PDF] | |
| 610 | Hb Setif | α2 | VARIANT II | β-thal Short Program | 13.2 | 4.74 | Heterozygote. | [PDF] | |
| 605 | Hb Setif | α2 | VARIANT II | Dual Kit Program | 6 | 1.529 | Heterozygote. Elutes with HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Belkhodja O, Labie D, Hb Setif: G1 (94) Asp-Tyr. A new chain hemoglobin variant with substitution of the residue involved in hydrogen bond between unlike subunits., FEBS Lett. , 27(2), 298-300, 1972
- Aubert JP, Drupt F, Rousseaux J, Loucheux-Lefebvre MH, Comparison between human normal and Sétif haemoglobins by circular dichroism and differential absorption studies., FEBS Lett. , 84(2), 375-8, 1977
- Nozari G, Rahbar S, Darbre P, Lehmann H, Hemoglobin Setif (alpha94 (G1) Asp replaced by Tyr) in Iram. A report of 9 cases., Hemoglobin , 1(3), 289-92, 1977
- Raik E, Powell E, Fleming P, Gordon S, Hemoglobin Setif and in vitro pseudosickling noted in a family with co-existent alpha and beta thalassemia., Pathology , 15(4), 453-6, 1983
- Al-Awamy B, Niazi GA, Wilson JB, Huisman TH, Hb Setif or alpha 2 94(G1)Asp----Tyr beta 2 observed in a Saudi Arabian family., Hemoglobin , 9(1), 87-90, 1985
- Charache S, Raik E, Holtzclaw D, Hathaway PJ, Powell E, Fleming P, Pseudosickling of hemoglobin Setif., Blood , 70(1), 237-42, 1987
- Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J, Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family., Hemoglobin , 32(6), 592-5, 2008
- Farashi S, Garous NF, Vakili S, Ashki M, Imanian H, Azarkeivan A, Najmabadi H, Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population., Hemoglobin , 40(1), 53-5, 2016
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 14:56:28 (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.