IthaID: 1310
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 145 TAT>TGT | HGVS Name: | HBB:c.437A>G |
| Hb Name: | Hb Rainier | Protein Info: | β 145(HC2) Tyr>Cys |
Context nucleotide sequence:
GTGGCTAATGCCCTGGCCCACAAGT [A/G] TCACTAAGCTCGCTTTCTTGCTGTC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKCH
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72011 |
| 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: | Caucasian | French | Greek | 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 81 | Hb Rainier | β | D-10 | Dual Kit Program | 73.2 | 1.69 | Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA. | [PDF] | |
| 82 | Hb Rainier | β | VARIANT II | β-thal Short Program | 78.1 | 2.48 | Increased oxygen affinity leading to erythrocytosis. Elutes as HbA. | [PDF] | |
| 83 | Hb Rainier | β | VARIANT II | β-thal Short Program | 78.3 | 2.51 | Increased oxygen affinity leading to erythrocytosis. Elutes as a shoulder in the descending part of HbA | [PDF] | |
| 84 | Hb Rainier | β | VARIANT II | Dual Kit Program | 72.2 | 1.77 | Increased oxygen affinity leading to erythrocytosis. Elutes as HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Adamson JW, Parer JT, Stamatoyannopoulos G, Erythrocytosis associated with hemoglobin Rainier: oxygen equilibria and marrow regulation., The Journal of clinical investigation, 48(8), 1376-86, 1969
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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