IthaID: 673



Names and Sequences

Functionality: Globin gene causative mutation
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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34175
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Algerian, Iranian, Lebanese, Saudi Arabian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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
603Hb Setifα2D-10Dual Kit Program3.51.43Heterozygote. Elutes with HbA. [PDF]
608Hb Setifα2D-10Dual Kit Program11.34.4Heterozygote. [PDF]
605Hb Setifα2VARIANT IIDual Kit Program61.529Heterozygote. Elutes with HbA. [PDF]
611Hb Setifα2VARIANT IIDual Kit Program10.43.908Heterozygote. [PDF]
604Hb Setifα2VARIANTβ-thal Short Program3.51.6Heterozygote. Elutes with HbA. [PDF]
609Hb Setifα2VARIANTβ-thal Short Program14.54.66Heterozygote. [PDF]
610Hb Setifα2VARIANT IIβ-thal Short Program13.24.74Heterozygote. [PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Charache S, Raik E, Holtzclaw D, Hathaway PJ, Powell E, Fleming P, Pseudosickling of hemoglobin Setif., Blood , 70(1), 237-42, 1987 PubMed
  7. 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
  8. 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 2018-02-28 10:29:58 (Show full history)

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