IthaID: 1555



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -202 C>G HGVS Name: HBG2:c.-255C>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TAAGCAGCAGTATCCTCTTGGGGGC [C/G] CCTTCCCCACACTATCTCAATGCAA (Strand: -)

Also known as: Black non-deletional HPFH

Comments: HPFH mutation, 14–24% 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: 42633
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

Sequence Viewer

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Publications / Origin

  1. Collins FS, Stoeckert CJ, Serjeant GR, Forget BG, Weissman SM, G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene., Proceedings of the National Academy of Sciences of the United States of America, 81(15), 4894-8, 1984 PubMed
  2. Akinbami AO, Campbell AD, Han ZJ, Luo HY, Chui DH, Steinberg MH, Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease., Hemoglobin , 40(1), 64-5, 2016 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 13:05:50 (Show full history)

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