Supplementary material Figure S1. Schematic representation of the PSTPIP1 protein and its domains.

Published: 20-11-2019| Version 1 | DOI: 10.17632/6h8ttn69m4.1
Boursier Guilaine


The functional domains are in green for F-BAR and orange for SH3. Critical codons are depicted as follows: Tryptophane 232 (Trp232) is required for interaction with the carboxyl‐terminal homology domain of PTP-PESTs. The association with PTP-PESTs inhibits tyrosine phosphorylation of wild-type PSTPIP1 on tyrosine 344 (Tyr344, but Tyr345 according to NM_003978.3) and Tyr367. Pathogenic and likely pathogenic known variants of PSTPIP1 are shown for each PSTPIP1-associated phenotype. Abbreviations: PAMI, PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome; PAPA, pyogenic sterile arthritis, pyoderma gangrenosum, and acne; PASH, pyoderma gangrenosum, acne and suppurative hidradenitis; PTP-PESTs, proline-, glutamic acid-, serine- and threonine-rich protein tyrosine phosphatases.