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.
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- Charache S, Raik E, Holtzclaw D, Hathaway PJ, Powell E, Fleming P, Pseudosickling of hemoglobin Setif., Blood , 70(1), 237-42, 1987 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 14:56:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 15:49:09 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype and ClinVar link. |
| 4 | 2018-02-28 10:29:58 | The IthaGenes Curation Team | Reviewed. New articles added. |
| 5 | 2021-03-11 14:56:28 | The IthaGenes Curation Team | Reviewed. Links reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07