IthaID: 995

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 58 CCT>CGT HGVS Name: HBB:c.176C>G
Hb Name: Hb Dhofar Protein Info: β 58(E2) Pro>Arg

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: 70900
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: Qara tribesmen in Southern Arabia
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


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
65Hb DhofarβD-10Dual Kit Program23.53.43Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). [PDF]
67Hb DhofarβVARIANTβ-thal Short Program13.93.84Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). [PDF]
68Hb DhofarβVARIANT IIβ-thal Short Program12.83.92Thalassemic Hb (in cis with a beta (+)-thalassemic mutation). [PDF]
69Hb DhofarβVARIANT IIDual Kit Program18.93.12Thalassemic Hb (in cis with a beta (+)-thalassemic mutation).[PDF]

Sequence Viewer

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Publications / Origin

  1. Marengo-Rowe AJ, Lorkin PA, Gallo E, Lehmann H, Haemoglobin Dhofar--a new variant from Southern Arabia., Biochimica et biophysica acta, 168(1), 58-63, 1968 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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