IthaID: 1571



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -175 T>C HGVS Name: HBG1:c.-228T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTTCCCCACACTATCTCAATGCAAA [C/T] ATCTGTCTGAAACGGTCCCTGGCTA (Strand: -)

Also known as: Black non-deletional HPFH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47584
Size: 1 bp
Located at:
Specific Location: Promoter

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Stoming TA, Stoming GS, Lanclos KD, Fei YJ, Altay C, Kutlar F, Huisman TH, An A gamma type of nondeletional hereditary persistence of fetal hemoglobin with a T----C mutation at position -175 to the cap site of the A gamma globin gene., Blood, 73(1), 329-33, 1989 PubMed
  2. Coleman MB, Adams JG, Steinberg MH, Plonczynski MW, Harrell AH, Castro O, Winter WP, G gamma A gamma (beta+) hereditary persistence of fetal hemoglobin: the G gamma -158 C-->T mutation in cis to the -175 T-->C mutation of the A gamma-globin gene results in increased G gamma-globin synthesis., American journal of hematology, 42(2), 186-90, 1993 PubMed
  3. 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
Created on 2010-06-16 16:13:17, Last reviewed on 2016-08-26 09:05:02 (Show full history)

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