IthaID: 3092



Names and Sequences

Functionality: Disease modifying mutation
Common Name: -148 G>A HGVS Name: NG_013087.1:g.4916G>A

Context nucleotide sequence:
GATAAGGCAAAGCAAGGCAAGGCGG [C/T] GGGGGGGCACTGTTTCTGGGGCACA (Strand: +)

Comments: SNP found in an adult female of Serbian origin with high levels of HbF. The mutation was observed in normal Thai individuals with HbF <1% (n=100), but was absent in normal subjects of Greek origin (n=100). The mutation resides in the Sp1 binding site and alters Sp1 binding to KLF1 promoter, leading to a decreased gene transcription. It is considered to be extremely rare in the general population.

External Links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 4916
Size: 1 bp
Located at: KLF1
Specific Location: Promoter

Phenotype

Allele Phenotype (Cis):Decreased expression for KLF1
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
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: Serbian, Thai, Greek
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Radmilovic M, Zukic B, Petrovic MS, Bartsakoulia M, Stankovic B, Kotur N, Dokmanovic L, Georgitsi M, Patrinos GP, Pavlovic S, Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin., Ann. Hematol. , 92(1), 53-8, 2013 PubMed
  2. Tepakhan W, Yamsri S, Sanchaisuriya K, Fucharoen G, Xu X, Fucharoen S, Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder., Blood Cells Mol. Dis. , 59(0), 85-91, 2016 PubMed
Created on 2016-09-13 11:02:07, Last reviewed on 2016-09-14 09:46:20 (Show full history)

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