IthaID: 1012



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
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

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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]
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]
128Hb AubagneβVARIANT IIDual Kit Program85.61.801Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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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)

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