IthaID: 443
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAC>AAC [Asp>Asn] | HGVS Name: | HBA1:c.19G>A | HBA2:c.19G>A |
| Hb Name: | Hb Dunn | Protein Info: | α2 or α1 6(A4) Asp>Asn |
Context nucleotide sequence:
ACCCACCATGGTGCTGTCTCCTGCC [A/C/G/T] ACAAGACCAACGTCAAGGCCGCCTG (Strand: +)
Protein sequence:
MVLSPANKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33794 or 37598 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Black, Indian, Moroccan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 182 | Hb Dunn | α1 or α2 | D-10 | Dual Kit Program | 14.4 | 3.8 | Heterozygote. Elutes in Hb D window. | [PDF] | |
| 183 | Hb Dunn | α1 or α2 | VARIANT | β-thal Short Program | 13.2 | 3.95 | Heterozygote. Elutes in HbD window. | [PDF] | |
| 184 | Hb Dunn | α1 or α2 | VARIANT II | β-thal Short Program | 12.6 | 4.01 | Heterozygote. Elutes in HbD window. | [PDF] | |
| 185 | Hb Dunn | α1 or α2 | VARIANT II | Dual Kit Program | 13.4 | 3.257 | Heterozygote. Elutes in HbD window. | [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
- Jue DL, Johnson MH, Patchen LC, Moo-Penn WF, Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine., Hemoglobin , 3(2), 137-43, 1979 PubMed
- Charache S, Brimhall B, Zaatari G, Oxygen affinity and stability of hemoglobin Dunn alpha 6(A4)Asp replaced by Asn): use of isoelectric focusing in recognition of a new abnormal hemoglobin., Am. J. Hematol. , 9(2), 151-60, 1980 PubMed
- Nakatsuji T, Webber BB, Johnson SE, Huisman TH, Two rare alpha chain variants, Hb Dunn or alpha 26(A4)Asp replaced by Asn beta 2 and Hb G-Pest or alpha 274(EF3)Asp replaced by Asn beta 2, observed in an Indian and a black newborn., Hemoglobin , 7(6), 597-9, 1983 PubMed
- Baklouti F, Francina A, Dorléac E, Baudin-Chich V, Gombaud-Saintonge G, Plauchu H, Wajcman H, Delaunay J, Godet J, Asymptomatic association of hemoglobin Dunn (alpha 6[A4]Asp----Asn) and hemoglobin O-Arab (beta 121[GH4]Glu----Lys) in a Moroccan man., Am. J. Hematol. , 27(4), 253-6, 1988 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 15:03:53 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-12 15:03:53 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07