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:
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].

External Links

Location

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

Phenotype

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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.