IthaID: 2921
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1143634 | HGVS Name: | NG_008851.1:g.8967C>T |
Context nucleotide sequence:
TCCACATTTCAGAACCTATCTTCTT [C/T] GACACATGGGATAACGAGGCTTATG (Strand: -)
Protein sequence:
MAEVPELASEMMAYYSGNEDDLFFEADGPKQMKCSFQDLDLCPLDGGIQLRISDHHYSKGFRQAASVVVAMDKLRKMLVPCPQTFQENDLSTFFPFIFEEEPIFFDTWDNEAYVHDAPVRSLNCTLRDSQQKSLVMSGPYELKALHLQGQDMEQQVVFSMSFVQGEESNDKIPVALGLKEKNLYLSCVLKDDKPTLQLESVDPKNYPKKKMEKRFVFNKIEINNKLEFESAQFPNWYISTSQAENMPVFLGGTKGGQDITDFTMQFVSS
Also known as: +3954 C>T
Comments: SNP (T allele) associated with a higher frequency of osteonecrosis, elevated pulmonary arterial pressure and lower reticulocyte counts in patients with sickle cell anaemia from Brazil.
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: |
Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805] Pulmonary arterial hypertension [HP:0002092] [OMIM:265400] Reticulocytopenia [HP:0001896] |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NG_008851.1 |
| Locus Location: | 8967 |
| Size: | 1 bp |
| Located at: | IL1B |
| Specific Location: | Exon 5 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Brazilian |
| 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
- Vicari P, Adegoke SA, Mazzotti DR, Cançado RD, Nogutti MA, Figueiredo MS, Interleukin-1β and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia., Blood Cells Mol. Dis. , 54(3), 244-9, 2015 PubMed
Created on 2016-05-26 12:00:04,
Last reviewed on 2019-07-03 15:55:59 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-26 12:00:04 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-17 12:31:20 | The IthaGenes Curation Team | Reviewed. Synonym name added. |
| 3 | 2017-07-19 11:19:34 | The IthaGenes Curation Team | Reviewed. Mutation info updated. |
| 4 | 2019-07-03 15:55:59 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07