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:
TGCACGTGGATCCTGAGAACTTCAG [G>C] GTGAGTCTATGGGACGCTTGATGTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFSLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| 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 |
HPLC
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 449 | Hb Camperdown | β | VARIANT | β-thal Short Program | 45.9 | 1.29 | Hb variant is mildly unstable. | [PDF] | |
| 450 | Hb Camperdown | β | VARIANT II | β-thal Short Program | 43.1 | 1.34 | Hb variant is mildly unstable. | [PDF] | |
| 451 | Hb Camperdown | β | VARIANT II | Dual Kit Program | 45.5 | 0.958 | Hb variant is mildly unstable. | [PDF] | |
| 563 | Hb Camperdown | β | D-10 | Dual Kit Program | 46.7 | 0.68 | Mildly unstable. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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
- 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
- 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
- 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
- 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