IthaID: 3291

Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 102 TCC>CCC [Ser>Pro] HGVS Name: NG_013087.1:g.6278T>C

Context nucleotide sequence:

Protein sequence:

Also known as: c.304T>C, p.S102P

Comments: Detected in Thai β0/HbE patients with high HbF levels (38.1±7.5%) [PMID 29067594]. Detected in individuals (β-thalassaemia carriers or normal) from the south of Iran with a HbF level range between 3.1% and 25.6% [PMID: 29420372].

External Links


Chromosome: 19
Locus: NG_013087.1
Locus Location: 6278
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Thai | Iranian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Khamphikham P, Sripichai O, Munkongdee T, Fucharoen S, Tongsima S, Smith DR, Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease., Int. J. Hematol. , 2017 PubMed
  2. Hamid M, Ershadi Oskouei S, Shariati G, Babaei E, Galehdari H, Saberi A, Sedaghat A, Mutation Screening of the Krüppel-like Factor 1 Gene in Individuals With Increased Fetal Hemoglobin Referred for Hemoglobinopathy Investigation in South of Iran., J. Pediatr. Hematol. Oncol. , 2018 PubMed
Created on 2018-01-08 17:41:38, Last reviewed on 2019-05-16 17:33:35 (Show full history)

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