IthaID: 995



Names and Sequences

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

Context nucleotide sequence:
ACTCCTGATGCTGTTATGGGCAACC [C>G] TAAGGTGAAGGCTCATGGCAAGAAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNRKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Heterozygotes presented with lower levels of Hb Dhofar (~15%) than expected. Hb Dhofar found in cis with CD 29 GGC>GGT, first in a young man [PMID: 7786794] and then in 54 cases in a cohort study [PMID: 18173741], explaining the lower levels of Dhofar. The CD 29 (C>T) occurs in the consensus splice site boundary of β-globin exon 1, and although it does not alter the amino acid it interferes with the normal mRNA splicing process. All heterozygotes cases presented with elevated Hb A2 and decreased MCV and MCH, consistent with β-thalassaemia trait.

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

Location

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: Missense codons (Protein Structure)
Ethnic Origin: Qara tribesmen in Southern Arabia
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
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

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.

Frequencies

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
  2. Williamson D, Brown KP, Langdown JV, Baglin TP, Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia., Br J Haematol, 90(1), 229-31, 1995 PubMed
  3. Daar S, Gravell D, Hussein HM, Pathare AV, Wali Y, Krishnamoorthy R, Haematological and clinical features of beta-thalassaemia associated with Hb Dhofar., Eur J Haematol, 80(1), 67-70, 2008 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-02-18 00:06:00 (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.