IthaID: 1556



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -200 +C HGVS Name: HBG2:c.-253_254insC
Hb Name: N/A Protein Info: N/A

Also known as: Tunisian non-deletional HPFH

Comments: HPFH mutation, 18–28% of HbF in heterozygous carriers. 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: 42635
Size: 1 bp
Located at:
Specific Location: Promoter

Other details

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

Sequence Viewer

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Publications / Origin

  1. Pissard S, M'rad A, Beuzard Y, Roméo PH, A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma., British journal of haematology, 95(1), 67-72, 1996 PubMed
  2. Martyn GE, Wienert B, Yang L, Shah M, Norton LJ, Burdach J, Kurita R, Nakamura Y, Pearson RCM, Funnell APW, Quinlan KGR, Crossley M, Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding., Nat. Genet. , 50(4), 498-503, 2018 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 12:55:20 (Show full history)

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