IthaID: 2686

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1042713 HGVS Name: NG_016421.1:g.5285A>G, NG_016421.1:g.5285A=

Context nucleotide sequence:

Also known as:

Comments: SNP (GG genotype) associated with elevated red blood cell adhesion to laminin in individuals with sickle cell disease (SCD) acquired from the Sickle cell Centre of the Duke University. Red cell adhesion is thought to contribute to the vaso-occlusive process in SCD [PMID: 18324973]. SNP associated with chronic pain in SCD and was found to be in a linkage disequilibrium block in the studied cohort [PMID: 28162517].

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Pain [HP:0012531]
RBC adhesion


Chromosome: 5
Locus: NG_016421.1
Locus Location: 5285
Size: 1 bp
Located at: ADRB2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Eyler CE, Jackson T, Elliott LE, De Castro LM, Jonassaint J, Ashley-Koch A, Telen MJ, beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion., Br. J. Haematol. , 141(1), 105-8, 2008 PubMed
  2. Jhun E, He Y, Yao Y, Wilkie D, Molokie R, Wang J, (283) Beta2-adrenergic receptor gene polymorphisms and haplotypes associate with chronic pain in sickle cell disease., J Pain , 17(4), S46-S47, 2016 PubMed
Created on 2016-05-12 09:50:42, Last reviewed on 2017-10-16 17:23:11 (Show full history)

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