IthaID: 443



Names and Sequences

Functionality: Globin gene causative mutation
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

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

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Black, Indian, Moroccan
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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]
185Hb Dunnα1 or α2VARIANT IIDual Kit Program13.43.257Heterozygote. Elutes in HbD 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]

Sequence Viewer

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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)

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