IthaID: 3261
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs9736333 | HGVS Name: | NG_000007.3:g.16784A>G |
Context nucleotide sequence:
GTTACACAGAACCAGAAGGCGGGGG [ C/T] GGGGCACTGACCCCGACAGGGGCCT (Strand: +)
Also known as:
Comments: SNP is located in DNase I HS-2 within a putative ZBTB7A-binding site. ZBTB7A (leukemia/lymphoma related factor; LRF) is an important repressor of γ-globin gene transcription. SNP was reported to influence HbF levels in patients with African origin haplotypes of sickle cell anaemia (study samples were obtained from the Cooperative Study of Sickle Cell Disease (CSSCD)).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 16784 |
| Size: | 1 bp |
| Located at: | βLCR |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Shaikho EM, Habara AH, Alsultan A, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Patra PK, Sebastiani P, Baltrusaitis K, Farrell JJ, Jiang Z, Luo HY, Chui DH, Al-Ali AK, Steinberg MH, Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia., Blood Cells Mol. Dis. , 59(0), 49-51, 2016
- Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017
Created on 2017-09-22 19:25:43,
Last reviewed on (Show full history)
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