IthaID: 863


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 19 AAC>AAA or AAG HGVS Name: HBB:c.60C>A | HBB:c.60C>G
Hb Name: Hb D-Ouled Rabah Protein Info: β 19(B1) Asn>Lys

Context nucleotide sequence:
TTACTGCCCTGTGGGGCAAGGTGAA [A/C/G/T] GTGGATGAAGTTGGTGGTGAGGCCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70654
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Algerian | Tuareg tribe
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
105Hb D-Ouled RabahβD-10Dual Kit Program48.32.64Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC.[PDF]
106Hb D-Ouled RabahβVARIANTβ-thal Short Program76.73.58[PDF]
107Hb D-Ouled RabahβVARIANT IIβ-thal Short Program75.13.57[PDF]
108Hb D-Ouled RabahβVARIANT IIDual Kit Program59.22.736[PDF]

In silico pathogenicity prediction

Publications / Origin

  1. Elion J, Belkhodja O, Wajcman H, Labie D, Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln., Biochimica et biophysica acta, 310(2), 360-4, 1973
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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