IthaID: 1251
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 131 CAG>GAG | HGVS Name: | HBB:c.394C>G |
| Hb Name: | Hb Camden | Protein Info: | β 131(H9) Gln>Glu |
Context nucleotide sequence:
CACCCCACCAGTGCAGGCTGCCTAT [A/C/G] AGAAAGTGGTGGCTGGTGTGGCTAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYEKVVAGVANALAHKYH
Also known as:
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71968 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 61 | Hb Camden | β | D-10 | Dual Kit Program | 50.1 | 0.75 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] | |
| 62 | Hb Camden | β | VARIANT II | β-thal Short Program | 44.5 | 1.36 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] | |
| 63 | Hb Camden | β | VARIANT II | Dual Kit Program | 50.3 | 0.87 | Clinically normal. Elutes near, or at the position of Hb A1c. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Cohen PT, Yates A, Bellingham AJ, Huehns ER, Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n leads to g1u., Nature, 243(5408), 467-8, 1973
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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