IthaID: 843
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
---|---|---|---|
Common Name: | CD 11 GTT>ATT | HGVS Name: | HBB:c.34G>A |
Hb Name: | Hb Hamilton | Protein Info: | β 11(A8) Val>Ile |
Context nucleotide sequence:
TCTGACTCCTGAGGAGAAGTCTGCC [A/G/T] TTACTGCCCTGTGGGGCAAGGTGAA (Strand: -)
Protein sequence:
MVHLTPEEKSAITALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70628 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Austrian | Chinese | Sardinian |
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 | ||
---|---|---|---|---|---|---|---|---|---|
118 | Hb Hamilton | β | VARIANT II | β-thal Short Program | 87.4 | 2.55 | Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies. | [PDF] | |
119 | Hb Hamilton | β | VARIANT II | Dual Kit Program | 86 | 1.789 | Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies. | [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
- Wong SC, Ali MA, Lam H, Webber BB, Wilson JB, Huisman TH, Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis., American journal of hematology, 16(1), 47-52, 1984 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