IthaID: 3485



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 182 TTC>CTC [Phe>Leu] HGVS Name: NG_013087.1:g.6518T>C

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYLPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Also known as: rs2072596, p.F182L

Comments: Found as a heterozygote in β0/HbE Thai patients with elevated HbF levels (26-45%, n=5), presenting with a severe phenotype. Found as a heterozygote in an Iranian patient heterozygous for Hb Dhonburi, presenting with a β-thalassaemia minor phenotype.

External Links

Phenotype

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

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6518
Size: 1 bp
Located at: KLF1
Specific Location: Exon 2

Other details

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

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. Tamaddoni A, Khabaz Astaneh S, Tabaripour R, Akhavan-Niaki H, Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia., Hemoglobin, 43(1), 12-17, 2019 PubMed
Created on 2019-11-05 12:45:26, Last reviewed on 2019-11-05 12:47:37 (Show full history)

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