IthaID: 3291



Names and Sequences

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

Context nucleotide sequence:
TGCGCTCTGGCGCCCAGCGAGGCC [T>C] CCGGGGCGCAATATCCGCCGCCGC (Strand: -)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEAPGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

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]. Found in Iranian patients presenting with a β-thalassaemia mild phenotype and with no mutations detected in the HBA and HBB genes [PMID: 30747024].

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: 6278
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. 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
  3. 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 2018-01-08 17:41:38, Last reviewed on 2019-11-05 15:37:39 (Show full history)

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