IthaID: 1090



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 87 ACA>AAA HGVS Name: HBB:c.263C>A
Hb Name: Hb D-Ibadan Protein Info: β 87(F3) Thr>Lys

Context nucleotide sequence:
GACAACCTCAAGGGCACCTTTGCCA [A/C/T] ACTGAGTGAGCTGCACTGTGACAAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAKLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70987
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Nigerian
Inheritance: Recessive
DNA Sequence Determined: No
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
317Hb D-IbadanβD-10Dual Kit Program34.13.51Carrier. Clinically normal. [PDF]
320Hb D-IbadanβVARIANT IIDual Kit Program35.83.17Carrier. Clinically normal. [PDF]
318Hb D-IbadanβVARIANTβ-thal Short Program39.13.85Carrier. Clinically normal. [PDF]
319Hb D-IbadanβVARIANT IIβ-thal Short Program39.13.94Carrier. Clinically normal. [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. Castro O, Winter WP, Bullock WH, Jilly PN, Gvozden AB, Rucknagel DL, Hemoglobin D Ibadan trait in combination with sigma beta thalassemia., Hemoglobin, 3(1), 77-82, 1979 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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