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

In silico pathogenicity prediction

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
  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
  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
  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
  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
  6. Charache S, Raik E, Holtzclaw D, Hathaway PJ, Powell E, Fleming P, Pseudosickling of hemoglobin Setif., Blood , 70(1), 237-42, 1987
  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
  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
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.