IthaID: 2078

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 301 CGC>CAC [Arg>His] HGVS Name: NG_013087.1:g.6876G>A

Context nucleotide sequence:

Protein sequence:

Also known as: p.R301H

Comments: Detected in the heterozygous state in association with HPFH phenotype (6.6% HbF, 2.4% HbA2) in a Black African person [PMID: 22102705]. Detected as a compound heterozygote with G176RfsX179 [ithaID=2085] in a Thai family with severe, transfusion-dependent hemolytic anaemia associated with a deficiency of the red cell enzyme pyruvate kinase, a known cause of CNSHA, as well as persistent expression of HbF (38%; range 2.6-54.6%) and expression of large quantities of embryonic globins in postnatal life [PMID: 24443441]. Detected in the hetrozygous state in Thai persons with heterozygous Hb E and high levels of HbF (14.7-15.5%) [PMID: 27282573].

External Links

No available links


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


Chromosome: 19
Locus: NG_013087.1
Locus Location: 6876
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S, Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults., Haematologica , 97(3), 340-3, 2012 PubMed
  2. Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR, Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression., Blood , 2014 PubMed
  3. 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 2013-06-28 13:02:36, Last reviewed on 2019-05-16 17:08:07 (Show full history)

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