IthaID: 4


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -101 (C>G) HGVS Name: HBB:c.-151C>G
Hb Name: N/A Protein Info: N/A

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70444
Size: 1 bp
Located at: β
Specific Location: Promoter

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Moi P, Faà V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC, A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF., British journal of haematology, 126(6), 881-4, 2004
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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