IthaID: 962
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 47 GAT>TAT | HGVS Name: | HBB:c.142G>T |
| Hb Name: | Hb Maputo | Protein Info: | β 47(CD6) Asp>Tyr |
Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [A/C/G/T] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGYLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70866 |
| 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: | Caucasian | Mozambique |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 145 | Hb Maputo | β | D-10 | Dual Kit Program | 55 | 3.05 | Clinically normal. Elutes as HbA2. | [PDF] | |
| 146 | Hb Maputo | β | VARIANT | β-thal Short Program | 40.9 | 3.72 | Clinically normal. Elutes as HbA2. | [PDF] | |
| 147 | Hb Maputo | β | VARIANT II | β-thal Short Program | 39.6 | 3.74 | Clinically normal. Elutes as HbA2. | [PDF] | |
| 148 | Hb Maputo | β | VARIANT II | Dual Kit Program | 40.1 | 2.98 | Clinically normal. Elutes as HbA2. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Piersma H, Therrell B, Chu A, Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr], Hemoglobin, 15(1), 97-101, 1991
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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