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
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 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
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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 15:03:53 (Show full history)
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