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Updated: Feb 11, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
A switch-variant model integrates the functions of an autoimmune variant of the phosphatase PTPN22
Torkel Vang1, Jimmi Nielsen2, Garth L Burn3
1Mental Health Centre Glostrup, Copenhagen University Hospital, 2600 Glostrup, Copenhagen, Denmark. torkelvan@yahoo.com.
Abstract:
The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases. Two papers in Science Immunology and Science Signaling on this human disease-associated variant lead us to propose a new "switch-of-function" model.
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