IthaID: 2132

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 325 GAG>AAG [Glu>Lys] HGVS Name: NG_013087.1:g.7203G>A

Context nucleotide sequence:

Protein sequence:

Also known as: E325K

Comments: Found in a heterozygous state in patients with congenital dyserythropoietic anaemia. It has a dominant-negative effect on the transcriptional activity of KLF1. It is located in the second zinc finger, affecting KLF1 binding to its cognate DNA motif, thus leading to a profound dysregulation of globin gene expression. Associates with high levels of HbF. Abolishes the expression of the water channel AQP1 and the adhesion molecule CD44 on erythrocytes.

External Links


Allele Phenotype (Cis):Unknown for KLF1
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 19
Locus: NG_013087.1
Locus Location: 7203
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Taiwanese
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Wickramasinghe SN, Illum N, Wimberley PD, Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions., Br. J. Haematol. , 79(2), 322-30, 1991 PubMed
  2. Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP, A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia., Am. J. Hum. Genet. , 87(5), 721-7, 2010 PubMed
  3. Singleton BK, Lau W, Fairweather VS, Burton NM, Wilson MC, Parsons SF, Richardson BM, Trakarnsanga K, Brady RL, Anstee DJ, Frayne J, Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes., Blood , 118(11), 3137-45, 2011 PubMed
  4. Jaffray JA, Mitchell WB, Gnanapragasam MN, Seshan SV, Guo X, Westhoff CM, Bieker JJ, Manwani D, Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm., Blood Cells Mol. Dis. , 51(2), 71-5, 2013 PubMed
Created on 2013-09-24 17:17:29, Last reviewed on 2019-05-17 09:55:32 (Show full history)

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