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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2016-05-12 09:56:49,
Last reviewed on 2017-10-16 17:20:46 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-12 09:56:49 | The IthaGenes Curation Team | Created |
| 2 | 2016-05-12 09:58:04 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-05-25 17:05:11 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-29 14:25:08 | The IthaGenes Curation Team | Reviewed. Mutation comment section updated. Other details section updated. Reference added. |
| 5 | 2017-10-16 17:20:46 | The IthaGenes Curation Team | Reviewed. Mutation comment and Clinical phenotype sections edited. |
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IthaGenes was last updated on 2024-11-20 13:24:07