IthaID: 1561


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -114 C>T HGVS Name: HBG2:c.-167C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ATGGGTTGGCCAGCCTTGCCTTGAC [C>T] AATAGCCTTGACAAGGCAAACTTGA (Strand: -)

Also known as: Japanese non-deletional HPFH

Comments: HPFH mutation, 11-14% of HbF in heterozygous carriers. Disrupts binding site (TGACCA) of BCL11A transcriptional repressor.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 42721
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: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Fucharoen S, Shimizu K, Fukumaki Y, A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression., Nucleic acids research, 18(17), 5245-53, 1990
  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 13:45:26 (Show full history)

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