IthaID: 1130
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 97 CAC>CAA, also CAC>CAG | HGVS Name: | HBB:c.294C>A | HBB:c.294C>G |
| Hb Name: | Hb Malmö | Protein Info: | β 97(FG4) His>Gln |
Context nucleotide sequence:
GTGAGCTGCACTGTGACAAGCTGCA [A/C/G/T] GTGGATCCTGAGAACTTCAGGGTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLQVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71018 |
| 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: | American | Dutch | English | German | Swedish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 163 | Hb Malmö | β | VARIANT II | β-thal Short Program | 18.3 | 1.7 | High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. | [PDF] | |
| 164 | Hb Malmö | β | VARIANT II | Dual Kit Program | 46.2 | 1.427 | High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Landin B, Berglund S, Wallman K, Two different mutations in codon 97 of the beta-globin gene cause Hb Malmö in Sweden., American journal of hematology, 51(1), 32-6, 1996
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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