IthaID: 2512



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 299 (CAT>GAT) HGVS Name: NG_013087.1:g.6869C>G

Context nucleotide sequence:
CACCAAGAGCTCCCACCTGAAGGCG [C/G] ATCTGCGCACGCACACAGGTGAGGG (Strand: -)

Comments: Protein change: H299D. Associated with increase production of HbF and with borderline HbA2 in Chinese population.

External Links

No available links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6869
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: N/A
Ethnic Origin: Chinese
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lou JW, Li DZ, Zhang Y, He Y, Sun MN, Ye WL, Liu YH, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals., Blood Cells Mol. Dis. , 2014 PubMed
  2. Liu D, Zhang X, Yu L, Cai R, Ma X, Zheng C, Zhou Y, Liu Q, Wei X, Lin L, Yan T, Huang J, Mohandas N, An X, Xu X, Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of β-thalassemia., Blood , 2014 PubMed
Created on 2014-06-05 16:11:44, Last reviewed on (Show full history)

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