IthaID: 2131



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 270 (TCG>TAG) HGVS Name: NG_013087.1:g.6783C>A

Context nucleotide sequence:
GCGCCATCCAAGCGAGGCCGACGTT [C/A] GTGGGCGCGCAAGAGGCAGGCAGCG (Strand: -)

Comments: Protein change: S270X. KLF1 haploinsufficiency due to S270X non-sense mutation is associated with significant age-related variation of HbF levels. In a Sardinia family, high levels of HbF were present only in compound heterozygotes for the S270X nonsense and K332Q missense mutations. Associated with borderline HbA2.

External Links

No available links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6783
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2

Phenotype

Allele Phenotype (Cis):N/A
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: Nonsense codon (Translation), Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Sardinians
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Satta S, Perseu L, Moi P, Asunis I, Cabriolu A, Maccioni L, Demartis FR, Manunza L, Cao A, Galanello R, Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin., Haematologica , 96(5), 767-70, 2011 PubMed
  2. Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, Barella S, Cao A, Galanello R, KLF1 gene mutations cause borderline HbA(2)., Blood , 118(16), 4454-8, 2011 PubMed
  3. Satta S, Perseu L, Maccioni L, Giagu N, Galanello R, Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation., Blood Cells Mol. Dis. , 48(1), 22-4, 2012 PubMed
Created on 2013-09-24 16:45:55, Last reviewed on 2016-09-12 17:14:09 (Show full history)

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