IthaID: 1012



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 64 GGC>GCC HGVS Name: HBB:c.194G>C
Hb Name: Hb Aubagne Protein Info: β 64(E8) Gly>Ala

Context nucleotide sequence:
GGCAACCCTAAGGTGAAGGCTCATG [A/C/G] CAAGAAAGTGCTCGGTGCCTTTAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHAKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70918
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: Yes
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
125Hb AubagneβD-10Dual Kit Program82.71.69Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0. [PDF]
128Hb AubagneβVARIANT IIDual Kit Program85.61.801Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.[PDF]
126Hb AubagneβVARIANTβ-thal Short Program85.22.47Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.[PDF]
127Hb AubagneβVARIANT IIβ-thal Short Program86.22.55Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.[PDF]

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. Lacan P, Badens C, Lena-Russo D, Merono F, Thuret I, Aubry M, Couprie N, Francina A, Hb aubagne [beta64(E8)Gly-Ala]: a new unstable beta chain variant found in a French family., Hemoglobin, 26(2), 163-7, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (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.

Please publish modules in offcanvas position.