IthaID: 2077



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 301 CGC>TGC [Arg>Cys] HGVS Name: NG_013087.1:g.6875C>T

Context nucleotide sequence:
GAGCTCCCACCTGAAGGCGCATCTG [C/T] GCACGCACACAGGTGAGGGGGCGGG (Strand: -)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLCTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Also known as: p.R301C

Comments: Detected in the heterozygous state in association with HPFH phenotype (14.6% HbF, 2.4% HbA2) in a Pakistani person. Detected in the homozygous state in an Indian male with 72.3% HbF and 0.5% HbA2, resulting in a mild thalassaemia intermedia phenotype. Arg301 lies in the helix of zinc finger domain 1 and the Arg>Cys change is predicted to be pathogenic.

External Links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6875
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: Pakistani | Indian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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. Rani N, Jamwal M, Kaur J, Sharma P, Malhotra P, Maitra A, Singh R, Das R, Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis., Blood Cells Mol. Dis. , 2018 PubMed
Created on 2013-06-28 13:00:51, Last reviewed on 2019-05-16 16:50:01 (Show full history)

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