IthaID: 2302



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -113 A>G HGVS Name: HBG1:c.-166A>G
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Present in the distal CCAAT box of the Aγ gene. Found in a heterozygous state in one Italian subject with elevated Hb F levels to 6.5%. This mutation does not disrupt the binding of the HbF repressor BCL11A, but rather creates a de novo binding site for the master erythroid regulator GATA1 to drive γ-globin expression and HbF production.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47646
Size: 1 bp
Located at:
Specific Location: Promoter

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P, Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin., Int J Lab Hematol , 2013 PubMed
  2. Martyn GE, Wienert B, Kurita R, Nakamura Y, Quinlan KGR, Crossley M, A natural regulatory mutation in the proximal promoter elevates fetal expression by creating a de novo GATA1 site., Blood, 133(8), 852-856, 2019 PubMed
Created on 2014-01-08 16:18:16, Last reviewed on 2019-12-03 14:59:27 (Show full history)

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