IthaID: 708
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 112 CAC>GAC [His>Asp] | HGVS Name: | NM_000558.5(HBA1):c.337C>G |
| Hb Name: | Hb Hopkins-II | Protein Info: | α1 112(G19) His>Asp |
Context nucleotide sequence:
CTGCCTGCTGGTGACCCTGGCCGCC [C/G] ACCTCCCCGCCGAGTTCACCCCTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAADLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38182 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 347 | Hb Hopkins-II | α1 | D-10 | Dual Kit Program | 21.4 | 1.39 | Heterozygote. | [PDF] | |
| 277 | Hb Hopkins-II | α1 | D-10 | Dual Kit Program | 18.3 | 1.41 | heterozygote | [PDF] | |
| 348 | Hb Hopkins-II | α1 | VARIANT | β-thal Short Program | 12.5 | 1.46 | Heterozygote. | [PDF] | |
| 278 | Hb Hopkins-II | α1 | VARIANT | β-thal Short Program | 19.3 | 1.5 | heterozygote | [PDF] | |
| 350 | Hb Hopkins-II | α1 | VARIANT II | Dual Kit Program | 22.6 | 1.49 | Heterozygote. | [PDF] | |
| 349 | Hb Hopkins-II | α1 | VARIANT II | β-thal Short Program | 10.3 | 1.6 | Heterozygote. | [PDF] | |
| 280 | Hb Hopkins-II | α1 | VARIANT II | Dual Kit Program | 19.5 | 1.5 | heterozygote | [PDF] | |
| 279 | Hb Hopkins-II | α1 | VARIANT II | β-thal Short Program | 19 | 1.51 | heterozygote | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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In such a case, please Refresh the page or retry at a later stage.
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Publications / Origin
- Charache S, Ostertag W, von Ehrenstein G, Clinical studies and physiological properties of Hopkins-2 haemoglobin., Nature New Biol. , 234(51), 248-51, 1971 PubMed
- Clegg JB, Charache S, The structure of hemoglobin Hopkins-2., Hemoglobin , 2(1), 85-8, 1978 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 10:36:33 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 16:50:13 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, references and ClinVar link. |
| 4 | 2021-04-07 12:22:56 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
| 5 | 2024-04-12 10:36:33 | The IthaGenes Curation Team | Reviewed. HGVS name and Links corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07