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:
GCTGCGGCTGGAGATTCGCGCGCT [C/T] GGACGAGCTGACCCGCCACTACCGG (Strand: -)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARLDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

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

In silico pathogenicity prediction

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. 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

Microattributions

A/AContributor(s)DateComments
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)

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.