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
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
Created on 2016-05-26 12:00:04,
Last reviewed on 2019-07-03 15:55:59 (Show full history)
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