IthaID: 2921
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1143634 | HGVS Name: | NG_008851.1:g.8967C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TCCACATTTCAGAACCTATCTTCTT [C/T] GACACATGGGATAACGAGGCTTATG (Strand: -)
Protein sequence:
MAEVPELASEMMAYYSGNEDDLFFEADGPKQMKCSFQDLDLCPLDGGIQLRISDHHYSKGFRQAASVVVAMDKLRKMLVPCPQTFQENDLSTFFPFIFEEEPIFFDTWDNEAYVHDAPVRSLNCTLRDSQQKSLVMSGPYELKALHLQGQDMEQQVVFSMSFVQGEESNDKIPVALGLKEKNLYLSCVLKDDKPTLQLESVDPKNYPKKKMEKRFVFNKIEINNKLEFESAQFPNWYISTSQAENMPVFLGGTKGGQDITDFTMQFVSS
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.
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
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)
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