IthaID: 141



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 38/39 (-CC) HGVS Name: HBB:c.117_118delCC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGGCTGCTGGTGGTCTACCCTTGGAC [-/CC] AGAGGTTCTTTGAGTCCTTTGGGG (Strand: -)

Also known as:

Comments: Deletion of the two nt CC generates a frameshift and a premature termination codon at codon 42 (TGA). Found as a heterozygote in members of a Belgian family.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70841
Size: 2 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Belgian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Heusterspreute M, Derclaye I, Gala JL, Van Geet C, Ferrant A, Malchaire Y, Thonnard J, Vaerman JL, Philippe M, Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation., Human genetics, 98(1), 77-9, 1996 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-07 12:59:49 (Show full history)

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