IthaID: 851
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 15 TGG>GGG | HGVS Name: | HBB:c.46T>G |
| Hb Name: | Hb Randwick | Protein Info: | β 15(A12) Trp>Gly |
Context nucleotide sequence:
GGAGAAGTCTGCCGTTACTGCCCTG [A/C/G/T] GGGGCAAGGTGAACGTGGATGAAGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALGGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70640 |
| 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: | Italian |
| Molecular mechanism: | N/A |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 493 | Hb Randwick | β | D-10 | Dual Kit Program | 52.4 | 1.82 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | |
| 452 | Hb Randwick | β | D-10 | Dual Kit Program | 81.4 | 1.69 | Elutes with HbA. Mildly unstable. | [PDF] | |
| 494 | Hb Randwick | β | VARIANT | β-thal Short Program | 67.7 | 2.64 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | |
| 453 | Hb Randwick | β | VARIANT | β-thal Short Program | 82.6 | 2.38 | Elutes with HbA. Mildly unstable. | [PDF] | |
| 495 | Hb Randwick | β | VARIANT II | β-thal Short Program | 66.8 | 2.66 | Double heterozygote for Hb Randwick and beta-thalassaemia. | [PDF] | |
| 455 | Hb Randwick | β | VARIANT II | Dual Kit Program | 2.9 | 2.995 | Elutes with HbA2. Mildly unstable. | [PDF] | |
| 454 | Hb Randwick | β | VARIANT II | β-thal Short Program | 81.8 | 2.41 | Elutes with HbA. Mildly unstable. | [PDF] | |
| 235 | Hb Randwick | β | VARIANT II | Dual Kit Program | 61.2 | 2.98 | Double heterozygote (Hb Randwick with Beta thalassemia). It elutes in the position of HbA0 in all the systems except in the VARIANT II Dual Beta Thal program where it co-elutes with HbA2. Its association with a beta thal is extremely rare and explains both the anaemia and an increased HbF and HbA2 and if it is a beta 0 thal all the fraction eluting at the position of HbA0 is the variant. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Ip F, Kwan YL, Holland RA, Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant., Hemoglobin, 12(2), 149-61, 1988
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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