IthaID: 675



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 94 GAC>CAC [Asp>His] HGVS Name: HBA2:c.283G>C
Hb Name: Hb Sunshine Seth Protein Info: α2 94(G1) Asp>His

Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVHPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

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: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
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
331Hb Sunshine Sethα2D-10Dual Kit Program14.84.43heterozygote[PDF]
334Hb Sunshine Sethα2VARIANT IIDual Kit Program15.23.956heterozygote[PDF]
332Hb Sunshine Sethα2VARIANTβ-thal Short Program18.84.71heterozygote[PDF]
333Hb Sunshine Sethα2VARIANT IIβ-thal Short Program164.79heterozygote[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. Schroeder WA, Shelton JB, Shelton JR, Powars D, Hemoglobin Sunshine Seth - alpha 2 (94 (G1) Asp replaced by His) beta 2., Hemoglobin , 3(2), 145-59, 1979 PubMed
  2. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 12:48:52 (Show full history)

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