IthaID: 40



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CAP +40 to +43 (-AAAC) HGVS Name: HBB:c.-11_-8delAAAC
Hb Name: N/A Protein Info: β nts 40 - 43 deleted

Context nucleotide sequence:
CACAACTGTGTTCACTAGCAACCTC [-/AAAC] AGACACCATGGTGCATCTGACTCCT (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70584
Size: 4 bp
Located at: β
Specific Location: 5'UTR 0

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Huang SZ, Xu YH, Zeng FY, Wu DF, Ren ZR, Zeng YT, A novel beta-thalassaemia mutation: deletion of 4 bp (-AAAC) in the 5' transcriptional sequence., British journal of haematology, 78(1), 125-6, 1991 PubMed
  2. Francès V, Morlé F, Godet J, Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote., Br. J. Haematol. , 84(1), 163-5, 1993 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-06-04 13:24:25 (Show full history)

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