IthaID: 1010
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 63 CAT>CCT | HGVS Name: | HBB:c.191A>C |
| Hb Name: | Hb Bicêtre | Protein Info: | β 63(E7) His>Pro |
Context nucleotide sequence:
ATGGGCAACCCTAAGGTGAAGGCTC [A/C/G] TGGCAAGAAAGTGCTCGGTGCCTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAPGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70915 |
| 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 | French |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 73 | Hb Bicêtre | β | D-10 | Dual Kit Program | 83.4 | 1.69 | Unstable variant. Elutes with HbA. | [PDF] | |
| 74 | Hb Bicêtre | β | VARIANT | β-thal Short Program | 80.6 | 2.34 | Unstable variant. Elutes with HbA. | [PDF] | |
| 75 | Hb Bicêtre | β | VARIANT II | β-thal Short Program | 85.2 | 2.5 | Unstable variant. Elutes with HbA. | [PDF] | |
| 76 | Hb Bicêtre | β | VARIANT II | Dual Kit Program | 83.8 | 1.8 | Unstable variant. Elutes with HbA. | [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
- Miller DR, Wilson JB, Kutlar A, Huisman TH, Hb Bicêtre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years., American journal of hematology, 21(2), 209-14, 1986 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 2024-11-20 13:24:07