IthaID: 1088
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 87 ACA>CCA | HGVS Name: | HBB:c.262A>C |
| Hb Name: | Hb Valletta | Protein Info: | β 87(F3) Thr>Pro |
Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGCC [A/C] CACTGAGTGAGCTGCACTGTGACAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAPLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70986 |
| 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: | Italian | Maltese |
| Molecular mechanism: | Altered interaction with HbS polymer |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 482 | Hb Valletta | β | D-10 | Dual Kit Program | 66.3 | 1.74 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | |
| 321 | Hb Valletta | β | D-10 | Dual Kit Program | 84.1 | 1.69 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | |
| 483 | Hb Valletta | β | VARIANT | β-thal Short Program | 66.4 | 2.58 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | |
| 322 | Hb Valletta | β | VARIANT | β-thal Short Program | 87 | 2.46 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | |
| 485 | Hb Valletta | β | VARIANT II | Dual Kit Program | 61.2 | 1.886 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | |
| 484 | Hb Valletta | β | VARIANT II | β-thal Short Program | 66.1 | 2.65 | Compound heterozygote with Hb Lepore. Elutes as HbA0. | [PDF] | |
| 324 | Hb Valletta | β | VARIANT II | Dual Kit Program | 81.6 | 1.75 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] | |
| 323 | Hb Valletta | β | VARIANT II | β-thal Short Program | 85.8 | 2.39 | Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu HY, Huisman TH, The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population., Human genetics, 86(6), 591-4, 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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