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

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

  1. 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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