IthaID: 1569



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -196 C>T HGVS Name: HBG1:c.-249C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCAGTATCCTCTTGGGGGCCCCTTC [C/T] CCACACTATCTCAATGCAAATATCT (Strand: -)

Also known as: Italian/Chinese non-deletional HPFH

Comments: HPFH mutation, 12-40% of HbF in individuals carrying beta-thalassemia mutations. 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: 47563
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: Italian, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Giglioni B, Casini C, Mantovani R, Merli S, Comi P, Ottolenghi S, Saglio G, Camaschella C, Mazza U, A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia., The EMBO journal, 3(11), 2641-5, 1984 PubMed
  2. Gelinas R, Bender M, Lotshaw C, Waber P, Kazazian H, Stamatoyannopoulos G, Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter., Blood, 67(6), 1777-9, 1986 PubMed
  3. 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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-10-08 13:24:27 (Show full history)

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