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
182Hb Dunnα1 or α2D-10Dual Kit Program14.43.8Heterozygote. Elutes in Hb D window.[PDF]
183Hb Dunnα1 or α2VARIANTβ-thal Short Program13.23.95Heterozygote. Elutes in HbD window.[PDF]
184Hb Dunnα1 or α2VARIANT IIβ-thal Short Program12.64.01Heterozygote. Elutes in HbD window.[PDF]
185Hb Dunnα1 or α2VARIANT IIDual Kit Program13.43.257Heterozygote. Elutes in HbD window.[PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.