IthaID: 131


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 33-35 (-TGGTCT) HGVS Name: HBB:c.101_106delTGGTCT
Hb Name: Hb Dresden Protein Info: β 33(B15) - 35(C1) Val-Val-Tyr->0 AND inserted Asp

Context nucleotide sequence:
TATTTTCCCACCCTTAGGCTGCTGG [-/TGGTCT] ACCCTTGGACCCAGAGGTTCTTTGA (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70825
Size: 6 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: German
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Vetter B, Neu-Yilik G, Kohne E, Arnold R, Sinha P, Gaedicke G, Ivancevic V, Kulozik AE, Dominant beta-thalassaemia: a highly unstable haemoglobin is caused by a novel 6 bp deletion of the beta-globin gene., British journal of haematology, 108(1), 176-81, 2000
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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