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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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
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
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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