IthaID: 1566


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -202 C>T HGVS Name: HBG1:c.-255C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AAATTAGCAGTATCCTCTTGGGGGC [C/T] CCTTCCCCACACTATCTCAATGCAA (Strand: -)

Also known as: Black non-deletional HPFH

Comments: HPFH mutation, 2-25% of HbF in individuals carrying HBB*S mutation. Disrupts binding site (CCCCTTCCCC) of LRF transcriptional repressor.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47557
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Gilman JG, Mishima N, Wen XJ, Kutlar F, Huisman TH, Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults., Blood, 72(1), 78-81, 1988
  2. Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C, De Cian A, Chalumeau A, Mavilio F, Amendola M, Andre-Schmutz I, Cereseto A, El Nemer W, Concordet JP, Giovannangeli C, Cavazzana M, Miccio A, Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype., Sci Adv . , 6(7), 0, 2020
Created on 2010-06-16 16:13:17, Last reviewed on 2020-10-08 13:17:55 (Show full history)

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