IthaID: 3619
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1051169 | HGVS Name: | NC_000021.9:g.46602317C>G |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTCATTGTTGATGAGCTCCTT [C>G] AGTTCGGATTTCTTCAGCTTG (Strand: +)
Protein sequence:
MSELEKAMVALIDVFHQYSGREGDKHKLKKSELKELINNELSHFLEEIKEQEVVDKVMETLDNDGDGECDFQEFMAFVAMVTTACHEFFEHE
Comments: The 'G' allele associated with lesser pain (CPI) scores in a sickle cell disease cohort of mainly African-Americans. The variation also appeared to influence chronic pain in SCD in a sex-specific manner, reaching statistical significance in females but not males.
External Links
Phenotype
| Allele Phenotype (Cis): | Decreased 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: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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 10:18:23,
Last reviewed on (Show full history)
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