IthaID: 1272
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 136 GGT>GAT | HGVS Name: | HBB:c.410G>A |
| Hb Name: | Hb Hope | Protein Info: | β 136(H14) Gly>Asp |
Context nucleotide sequence:
GCTGCCTATCAGAAAGTGGTGGCTG [A/C/G] TGTGGCTAATGCCCTGGCCCACAAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVADVANALAHKYH
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71984 |
| 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: | Black | Cuban | Japanese | Laotian | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 388 | Hb Hope | β | D-10 | Dual Kit Program | 49.2 | 0.73 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | |
| 389 | Hb Hope | β | VARIANT | β-thal Short Program | 47.3 | 1.36 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | |
| 390 | Hb Hope | β | VARIANT II | β-thal Short Program | 47.8 | 1.4 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] | |
| 391 | Hb Hope | β | VARIANT II | Dual Kit Program | 47.8 | 0.921 | In neonatal screening this Hb may be masked by the large amount of HbF and a baby compound heterozygous for HbS and Hb Hope may erroneously appear as an HbS homozygote. | [PDF] |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Hubbard M, Wilson JB, Wrightstone RN, Efremov GD, Huisman TH, Hb Camden and Hb Hope found during routine testing., Acta haematologica, 54(1), 53-8, 1975
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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