IthaID: 982

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 53 GCT>ACT	HGVS Name:	HBB:c.160G>A
Hb Name:	Hb Acharnes	Protein Info:	β 53(D4) Ala>Thr

Context nucleotide sequence:
CTTTGGGGATCTGTCCACTCCTGAT [A/G] CTGTTATGGGCAACCCTAAGGTGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDTVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
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:	70884
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:	Greek
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
89	Hb Acharnes	β	D-10	Dual Kit Program	81.7	1.7	Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.	[PDF]
90	Hb Acharnes	β	VARIANT	β-thal Short Program	30.2	2.28	Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.	[PDF]
91	Hb Acharnes	β	VARIANT II	β-thal Short Program	82.8	2.47	Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.	[PDF]
92	Hb Acharnes	β	VARIANT II	Dual Kit Program	80.1	1.776	Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Papassotiriou I, Traeger-Synodinos J, Promé D, Kister J, Stamou E, Liakopoulou T, Stamoulakatou A, Kanavakis E, Wajcman H, Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]., American journal of hematology, 62(3), 186-92, 1999 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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