IthaID: 982



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70884
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: Greek
Inheritance: Recessive
DNA Sequence Determined: No
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
89Hb AcharnesβD-10Dual Kit Program81.71.7 Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.[PDF]
92Hb AcharnesβVARIANT IIDual Kit Program80.11.776Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. [PDF]
90Hb AcharnesβVARIANTβ-thal Short Program30.22.28Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part.[PDF]
91Hb AcharnesβVARIANT IIβ-thal Short Program82.82.47Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. [PDF]

Sequence Viewer

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Publications / Origin

  1. 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)

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