A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families
Fig 3
Gene SUPT20H and its product: p38IP.
Abbreviations: NLS: Nuclear Localization signal, PEST: Proline (P) Glutamic acid (E) Serine (S) Threonine. (A) Gene model of SUPT20H. The red arrow indicates the exon including the nonsense variant identified by WES. The exons color code refers to the protein domain it encodes for. (B) On top, p38IP protein model of 733 amino-acid and on the bottom, the positions of p38IP interactors binding sites.