IthaID: 3619


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1051169 HGVS Name: NC_000021.9:g.46602317C>G

Context nucleotide sequence:
CTCATTGTTGATGAGCTCCTT [C>G] AGTTCGGATTTCTTCAGCTTG (Strand: +)

Protein sequence:
MSELEKAMVALIDVFHQYSGREGDKHKLKKSELKELINNELSHFLEEIKEQEVVDKVMETLDNDGDGECDFQEFMAFVAMVTTACHEFFEHE

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Publications / Origin

  1. 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 10:18:23, Last reviewed on (Show full history)

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