IthaID: 837
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 9 TCT>TAT | HGVS Name: | HBB:c.29C>A |
| Hb Name: | Hb Brem-sur-Mer | Protein Info: | β 9(A6) Ser>Tyr |
Context nucleotide sequence:
GTGCATCTGACTCCTGAGGAGAAGT [A/C/G] TGCCGTTACTGCCCTGTGGGGCAAG (Strand: -)
Protein sequence:
MVHLTPEEKYAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70623 |
| 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: | French |
| Molecular mechanism: | N/A |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 149 | Hb Brem-sur-Mer | β | D-10 | Dual Kit Program | 72 | 1.72 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | |
| 150 | Hb Brem-sur-Mer | β | VARIANT | β-thal Short Program | 72.1 | 2.4 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | |
| 151 | Hb Brem-sur-Mer | β | VARIANT II | β-thal Short Program | 76.5 | 2.58 | Clinically and hematologically normal. Elutes as HbA. | [PDF] | |
| 152 | Hb Brem-sur-Mer | β | VARIANT II | Dual Kit Program | 1.5 | 3.027 | Clinically and hematologically normal. Elutes as HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Lacan P, Moreau M, Becchi M, Zanella-Cleon I, Aubry M, Louis JJ, Couprie N, Francina A, Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]., Hemoglobin, 29(1), 69-75, 2005
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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