IthaID: 140



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 38/39 (-C) HGVS Name: HBB:c.118delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGGCTGCTGGTGGTCTACCCTTGGACC [-/C] AGAGGTTCTTTGAGTCCTTTGGGG (Strand: -)

Also known as:

Comments: Loss of nt C between codons 38 and 39 generates a frameshift with a nonsense codon at codon 60 (TGA) terminating translation. Found in a heterozygous state and in compound heterozygosity with a nondeletional Gγ-HPFH in members of a Czechoslovakian family.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70842
Size: 1 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: Czechoslovakian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Frequencies

Publications / Origin

  1. Indrak K, Indrakova J, Kutlar F, Pospisilova D, Sulovska I, Baysal E, Huisman TH, Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family., Annals of hematology, 63(2), 111-5, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-07 08:51:05 (Show full history)

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