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
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
Created on 2020-09-08 09:55:40,
Last reviewed on 2020-09-08 10:19:42 (Show full history)
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