IthaID: 2513

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs483352839 HGVS Name: NG_013087.1:g.7252G>A

Context nucleotide sequence:

Protein sequence:

Also known as: CD 341 TGC>TAC [Cys>Tyr], C341Y

Comments: Found as a heterozygote. Associated with borderline HbA2 levels and slightly elevated HbF levels in the normal Chinese population. Found in Chinese α-thalassaemia carriers with HbF levels of ≥1%.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Increased Hb A2 levels [HP:0045048]


Chromosome: 19
Locus: NG_013087.1
Locus Location: 7252
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

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

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
  3. Jiang F, Qu YX, Chen GL, Li J, Zhou JY, Zuo LD, Liao C, Li DZ, KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population., Hemoglobin, 2018 PubMed
Created on 2014-06-05 19:50:31, Last reviewed on 2019-05-13 14:06:43 (Show full history)

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