IthaID: 2687
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs3730070 | HGVS Name: | NG_042166.1:g.19032C>G |
Context nucleotide sequence:
AGGGCCCAGCACTCAGCTCAGCCTC [C/G] TCTCCCTCAGTACTCCCGGAAGGTG (Strand: -)
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]. The rs3730070-G allele associated with lower haemolytic rate in SCD patients from Guadeloupe [PMID: 27067484].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] RBC adhesion |
Location
| Chromosome: | 12 |
|---|---|
| Locus: | NG_042166.1 |
| Locus Location: | 19032 |
| Size: | 1 bp |
| Located at: | ADCY6 |
| Specific Location: | Intron |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Guadeloupeans |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
- Cita KC, Ferdinand S, Connes P, Brudey L, Tressières B, Etienne-Julan M, Lemonne N, Tarer V, Elion J, Romana M, Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia., Blood Cells Mol. Dis. , 58(0), 21-5, 2016
Created on 2016-05-12 09:56:49,
Last reviewed on 2017-10-16 17:20:46 (Show full history)
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