IthaID: 1090

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
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:

Protein sequence:

Also known as:


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


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Nigerian
Molecular mechanism: Altered interaction with HbS polymer
Inheritance: Recessive
DNA Sequence Determined: No


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]
318Hb D-IbadanβVARIANTβ-thal Short Program39.13.85Carrier. Clinically normal. [PDF]
319Hb D-IbadanβVARIANT IIβ-thal Short Program39.13.94Carrier. Clinically normal. [PDF]
320Hb D-IbadanβVARIANT IIDual Kit Program35.83.17Carrier. Clinically normal. [PDF]

In silico pathogenicity prediction

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
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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