IthaID: 3092
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -148 G>A | HGVS Name: | NG_013087.1:g.4916G>A |
Context nucleotide sequence:
GATAAGGCAAAGCAAGGCAAGGCGG [C/T] GGGGGGGCACTGTTTCTGGGGCACA (Strand: +)
Also known as:
Comments: SNP found in an adult female of Serbian origin with high levels of HbF. The mutation was observed in normal Thai individuals with HbF <1% (n=100), but was absent in normal subjects of Greek origin (n=100). The mutation resides in the Sp1 binding site and alters Sp1 binding to KLF1 promoter, leading to a decreased gene transcription. It is considered to be extremely rare in the general population.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | Decreased expression for KLF1 |
|---|---|
| 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: | 4916 |
| Size: | 1 bp |
| Located at: | KLF1 |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Serbian, Thai, Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Radmilovic M, Zukic B, Petrovic MS, Bartsakoulia M, Stankovic B, Kotur N, Dokmanovic L, Georgitsi M, Patrinos GP, Pavlovic S, Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin., Ann. Hematol. , 92(1), 53-8, 2013 PubMed
- Tepakhan W, Yamsri S, Sanchaisuriya K, Fucharoen G, Xu X, Fucharoen S, Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder., Blood Cells Mol. Dis. , 59(0), 85-91, 2016 PubMed
Created on 2016-09-13 11:02:07,
Last reviewed on 2016-09-14 09:46:20 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-13 11:02:07 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-14 09:46:20 | The IthaGenes Curation Team | Reviewed. Mutation name updated. |
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IthaGenes was last updated on 2024-04-18 10:10:45