IthaID: 605
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 72 CAC>CAA [His>Gln] | HGVS Name: | HBA2:c.219C>A |
| Hb Name: | Hb Gouda | Protein Info: | α2 72(EF1) His>Gln |
Context nucleotide sequence:
ACGCGCTGACCAACGCCGTGGCGCA [A/C] GTGGACGACATGCCCAACGCGCTGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAQVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34111 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Dutch |
| 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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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 357 | Hb Gouda | α2 | D-10 | Dual Kit Program | 28.7 | 1.43 | Heterozygote. Clinically normal. | [PDF] | |
| 358 | Hb Gouda | α2 | VARIANT | β-thal Short Program | 30.9 | 1.64 | Heterozygote. Clinically normal. | [PDF] | |
| 550 | Hb Gouda | α2 | VARIANT II | β-thal Short Program | 31.1 | 1.7 | heterozygote | [PDF] | |
| 551 | Hb Gouda | α2 | VARIANT II | Dual Kit Program | 33.3 | 1.557 | 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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Publications / Origin
- Giordano PC, Harteveld CL, Kok PJ, Geenen A, Batelaan D, Amons R, Bemini LF, HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant., Hemoglobin , 20(1), 21-9, 1996 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-10 09:22:05 (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 | 2014-04-10 09:22:05 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07