IthaID: 1162

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 104 AGG>AGC [Arg>Ser] HGVS Name: HBB:c.315G>C
Hb Name: Hb Camperdown Protein Info: β 104(G6) Arg>Ser

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Initially reported in a Maltese family as an abnormal Hb by acetate cellulose electrophoresis. Protein analysis revealed substitution of arginine at position β104[G6] by a serine residue. The Hb variant is unstable and exhibits normal oxygen affinity at physiological pH in red cell suspensions, but has a lower oxygen affinity than HbA in chloride-free buffer. It moves more cathodically than HbA in citrate agar electrophoresis, an indication for a decrease in the number of positive charges in the protein usually associated with an abnormality at the β1β2 interface where anionic cofactors bind to tetrameric Hb. More information about the Hb variant impacton structure and biochemical properties are available at PMID 2606725. Molecular characterization in two unrelated individuals of Italian origin identified Hb Camperdown as an AGG>AGC change at position 104 (G6).

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71039
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: Maltese, Sicilian, Italian, Brazilian
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
449Hb CamperdownβVARIANTβ-thal Short Program45.91.29Hb variant is mildly unstable. [PDF]
450Hb CamperdownβVARIANT IIβ-thal Short Program43.11.34Hb variant is mildly unstable. [PDF]
451Hb CamperdownβVARIANT IIDual Kit Program45.50.958Hb variant is mildly unstable. [PDF]
563Hb CamperdownβD-10Dual Kit Program46.70.68Mildly unstable. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wilkinson T, Chua CG, Carrell RW, Robin H, Exner T, Lee KM, Kronenberg H, Haemoglobin Camperdown beta104(G6) arginine leads to serine., Biochimica et biophysica acta, 393(1), 195-200, 1975 PubMed
  2. Kister J, Barbadjian J, Blouquit Y, Bohn B, Galacteros F, Poyart C, Inhibition of oxygen-linked anion binding in Hb Camperdown [alpha 2 beta 2(104)(G6)Arg----Ser]., Hemoglobin, 13(6), 567-78, 1989 PubMed
  3. Zhao W,Wilson JB,Huisman TH,Sciarratta GV,Ivaldi G,Petrini C,Ripamonti M, Hb Camperdown or alpha 2 beta 2(104)(G6)Arg----Ser in two Italian males., Hemoglobin, 4(4), 459-61, 1991 PubMed
  4. Jensen ON, Roepstorff P, Application of reversed phase high performance liquid chromatography and plasma desorption mass spectrometry for the characterization of a hemoglobin variant., Hemoglobin, 15(6), 497-507, 1991 PubMed
  5. Miranda SR,Kimura EM,Teixeira RC,Bertuzzo CS,Ramalho AS,Saad ST,Costa FF, Hb Camperdown [alpha 2 beta 2 104(G6)Arg-->Ser] identified by DNA analysis in a Brazilian family., Hemoglobin, 2(2), 147-53, 1996 PubMed
  6. Castelli R,Tempesta A,Bianchi A,Porro T,Ivaldi G,Cappellini MD, Unreliable estimation of HbA due to the presence of Camperdown haemoglobin [beta 104 (G6) Arg --> Ser]., Diabet Med, 4(4), 377-9, 2004 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2024-02-13 12:50:06 (Show full history)

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