IthaID: 1252
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 131 CAG>AAG | HGVS Name: | HBB:c.394C>A |
| Hb Name: | Hb Shelby | Protein Info: | β 131(H9) Gln>Lys |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACCCCACCAGTGCAGGCTGCCTAT [A/C/G] AGAAAGTGGTGGCTGGTGTGGCTAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYKKVVAGVANALAHKYH
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: | 71968 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 473 | Hb Shelby | β | D-10 | Dual Kit Program | 5.8 | 3.1 | heterozygote | [PDF] | |
| 470 | Hb Shelby | β | D-10 | Dual Kit Program | 11.7 | 3.06 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | |
| 474 | Hb Shelby | β | VARIANT | β-thal Short Program | 3.9 | 3.62 | heterozygote | [PDF] | |
| 471 | Hb Shelby | β | VARIANT | β-thal Short Program | 10.6 | 3.61 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | |
| 476 | Hb Shelby | β | VARIANT II | Dual Kit Program | 3.9 | 2.979 | heterozygote | [PDF] | |
| 475 | Hb Shelby | β | VARIANT II | β-thal Short Program | 4.4 | 3.66 | heterozygote | [PDF] | |
| 472 | Hb Shelby | β | VARIANT II | Dual Kit Program | 12.2 | 2.968 | Compound heterozygous Hb Shelby / Beta zero Thalassemia. | [PDF] | |
| 44 | Hb Shelby | β | VARIANT II | Dual Kit Program | 73.6 | 4.74 | Compound heterozygote between Hb Shelby and beta (0) Thal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Lutcher CL, Wilson JB, Gravely ME, Stevens PD, Chen CJ, Lindeman JG, Wong SC, Miller A, Gottleib M, Huisman TH, Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS., Blood, 47(1), 99-112, 1976
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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