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.

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

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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