IthaID: 3618
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs9722 | HGVS Name: | NC_000021.9:g.46599326G>A |
Context nucleotide sequence:
GTCTGCTTTCTTGCATGACC [G>A] TCTCTGTTACAGGAAAGGAA (Strand: +)
Also known as:
Comments: The 'A' allele associated with higher pain (CPI) scores in a sickle cell disease cohort of mainly African-Americans. he variation also appeared to influence chronic pain in SCD in a sex-specific manner, reaching statistical significance in females but not males.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | Increased expression for S100B |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Pain [HP:0012531] |
Location
| Chromosome: | 21 |
|---|---|
| Locus: | NM_006272.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | S100B |
| Specific Location: | 3'UTR |
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
- Jhun EH, Sadhu N, He Y, Yao Y, Wilkie DJ, Molokie RE, Wang ZJ, S100B single nucleotide polymorphisms exhibit sex-specific associations with chronic pain in sickle cell disease in a largely African-American cohort., PLoS ONE, 15(5), e0232721, 2020 PubMed
Created on 2020-09-08 09:55:40,
Last reviewed on 2020-09-08 10:19:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-09-08 09:55:40 | The IthaGenes Curation Team | Created |
| 2 | 2020-09-08 10:19:42 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07