IthaID: 179



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 74/75 (-C) HGVS Name: HBB:c.225delC or HBB:c.226delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AAGTGCTCGGTGCCTTTAGTGATGG [-/C] CTGGCTCACCTGGACAACCTCAAGG (Strand: -)

Also known as:

Comments: Deletion of a C between codons 74 and 75 (GGC|CTG), creating a change in the reading frame that results in a premature termination of translation because of a stop codon at codon 88 (TGA).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70949
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: Turkish
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Frequencies

Publications / Origin

  1. Başak AN, Ozçelik H, Ozer A, Tolun A, Aksoy M, Ağaoğlu L, Ridolfi F, Ulukutlu L, Akar N, Gürgey A, The molecular basis of beta-thalassemia in Turkey., Human genetics, 89(3), 315-8, 1992 PubMed
  2. Başak AN, Ozer A, Ozçelik H, Kirdar B, Gürgey A, A novel frameshift mutation: deletion of C in codons 74/75 of the beta-globin gene causes beta zero-thalassemia in a Turkish patient., Hemoglobin, 16(4), 309-12, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-09-27 10:44:28 (Show full history)

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