IthaID: 2917
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2310991 | HGVS Name: | NC_000010.11:g.70171890C>A |
Context nucleotide sequence:
GTGCACATGCACAAACACACACACA [C>A] AAAAAACACAATGGAACAGAGCAAA (Strand: +)
Also known as:
Comments: SNP is located within 2KB 5' of SAR1A gene. SNP is associated with a significant change in HbF levels after 2 years of hydroxyurea (HU) treatment in African Americans with sickle cell disease (SCD) acquired from the Sickle Cell Pulmonary Hypertension Screening Study (n=32). SNP did not associate with baseline HbF or HU-induced HbF levels in SCD patients from Cameroon (n=484) and the U.S. (n=117).
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 response to hydroxyurea |
Location
| Chromosome: | 10 |
|---|---|
| Locus: | NM_001142648.2 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | SAR1A |
| Specific Location: | N/A 0 |
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
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
- Kumkhaek C, Taylor JG, Zhu J, Hoppe C, Kato GJ, Rodgers GP, Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia., Br. J. Haematol. , 141(2), 254-9, 2008 PubMed
- Green NS, Ender KL, Pashankar F, Driscoll C, Giardina PJ, Mullen CA, Clark LN, Manwani D, Crotty J, Kisselev S, Neville KA, Hoppe C, Barral S, Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea., PLoS ONE , 8(2), e55709, 2013 PubMed
- Pule GD, Bitoungui VJN, Chemegni BC, Kengne AP, Wonkam A, SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon., BMC Res Notes , 10(1), 183, 2017 PubMed
Created on 2016-05-24 18:11:15,
Last reviewed on 2019-12-12 15:34:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-24 18:11:15 | The IthaGenes Curation Team | Created |
| 2 | 2016-05-24 18:12:50 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-07-18 11:58:07 | The IthaGenes Curation Team | Reviewed. Mutation Names & DNA Info section updated. Reference added. |
| 4 | 2019-12-12 09:21:17 | The IthaGenes Curation Team | Reviewed. Reference and ethnic origin added, Comment updated. |
| 5 | 2019-12-12 09:25:22 | The IthaGenes Curation Team | Reviewed. Comment edited. |
| 6 | 2019-12-12 15:34:11 | The IthaGenes Curation Team | Reviewed. Locus added. |
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IthaGenes was last updated on 2024-11-20 13:24:07