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Article

A functional polymorphism of Ptpn22 is associated with type 1 diabetes in the BioBreeding rat.

Journal of immunology (Baltimore, Md. : 1950) - 15 Jan 2015

Sarmiento Janice, Wallis Robert H, Ning Terri, Marandi Leili, Chao Gary, Veillette André, Lernmark Åke, Paterson Andrew D, Poussier Philippe

Abstract excerpt

The R620W variant of PTPN22 is one of the major genetic risk factors for several autoimmune disorders including type 1 diabetes (T1D) in humans. In the BioBreeding T1D-prone (BBDP) rat, a single nucleotide polymorphism in Ptpn22 results in an A629T substitution immediately C-terminal to the aliphatic residues central to the Ptpn22-C-terminal Src kinase interaction. This variant exhibits a 50% decrease in...

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Share to Amino Acid Substitution
Share to Crosses, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 1

Share to Mutation, Missense

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 22

Share to Receptors, Antigen, T-Cell

Share to T-Lymphocytes, Regulatory

Source

Identifiers

PMID: 25505293
DOI: 10.4049/jimmunol.1302689

Genes

PTPN22

Provenance

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