IthaID: 3138

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 323 TCG>TTG [Ser>Leu] HGVS Name: NG_013087.1:g.7198C>T

Context nucleotide sequence:

Protein sequence:

Also known as: p.Ser323Leu

Comments: Identified in a heterozygous state in two siblings homozygous for the β+ IVS I-110 G>A [ithaID=113] with elevated HbF levels (63% and 66.2% HbF) and an overall good health. Located in the second zinc finger of KLF1 and predicted to have a deleterious effect on protein function.

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]


Chromosome: 19
Locus: NG_013087.1
Locus Location: 7198
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

  1. Fanis P, Kousiappa I, Phylactides M, Kyrri A, Hadjigavriel M, Christou S, Sitarou M, Kleanthous M, A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major., Hum Mutat, 40(10), 1768-1780, 2019 PubMed


1Fanis, Pavlos2016-12-20First report.
Created on 2016-12-20 14:26:33, Last reviewed on 2021-02-24 12:39:45 (Show full history)

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