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
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 | ||
---|---|---|---|---|---|---|---|---|---|
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-12 10:33:52