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

HbVar	dbSNP
OMIM	LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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
125	Hb Aubagne	β	D-10	Dual Kit Program	82.7	1.69	Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.	[PDF]
126	Hb Aubagne	β	VARIANT	β-thal Short Program	85.2	2.47	Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.	[PDF]
127	Hb Aubagne	β	VARIANT II	β-thal Short Program	86.2	2.55	Heterozygous. Unstable variant, mild hemolytic anaemia. Appears as a shoulder in the descending part of HbA0.	[PDF]
128	Hb Aubagne	β	VARIANT II	Dual Kit Program	85.6	1.801	Heterozygous. 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

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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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