PSTPIP1 c.748G>C ;(p.E250Q)

Variant ID: 15-77324645-G-C

NM_003978.3(PSTPIP1):c.748G>C;(p.E250Q)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSTPIP1: 748G>C; Glu250Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene.

Jaad Case Reports
Zhao, Raymond R; Novice, Taylor T; Konda, Sasank S
Publication Date: 2023-02

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 36660269
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Strong inflammatory signatures in the neutrophils of PAMI syndrome.

Frontiers In Immunology
Zheng, Wenjie W; Fan, Xiaorui X; Yang, Zhaohui Z; Shangguan, Yaoyao Y; Jin, Taijie T; Liu, Yan Y; Huang, Jiqian J; Ye, Xiaohua X; Zhou, Qing Q; Li, Xiaozhong X
Publication Date: 2022

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 36203570
Variant Present in the following documents:
  • Main text
  • fimmu-13-926087.pdf
View BVdb publication page



Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Frontiers In Immunology
Miyazawa, Hanae H; Wada, Taizo T
Publication Date: 2022

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 35958573
Variant Present in the following documents:
  • Main text
  • fimmu-13-930141.pdf
View BVdb publication page



PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Pediatric Rheumatology Online Journal
Whiteside, Bethany Gillies BG; Titheradge, Hannah H; Al-Abadi, Eslam E
Publication Date: 2022-07-15

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 35840971
Variant Present in the following documents:
  • Main text
  • 12969_2022_Article_707.pdf
View BVdb publication page



Fas/CD95 Signaling Pathway in Damage-Associated Molecular Pattern (DAMP)-Sensing Receptors.

Cells
Galli, Gael G; Vacher, Pierre P; Ryffel, Bernhard B; Blanco, Patrick P; Legembre, Patrick P
Publication Date: 2022-04-24

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 35563744
Variant Present in the following documents:
  • Main text
  • cells-11-01438.pdf
View BVdb publication page



The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Frontiers In Genetics
Pace, Nikolai Paul NP; Mintoff, Dillon D; Borg, Isabella I
Publication Date: 2022

Variant appearance in text: PSTPIP1: 748G>C
PubMed Link: 35401657
Variant Present in the following documents:
  • Main text
  • fgene-13-861241.pdf
View BVdb publication page



PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.

Cellular And Molecular Life Sciences : Cmls
Manso, José A JA; Marcos, Tamara T; Ruiz-Martín, Virginia V; Casas, Javier J; Alcón, Pablo P; Sánchez Crespo, Mariano M; Bayón, Yolanda Y; de Pereda, José M JM; Alonso, Andrés A
Publication Date: 2022-02-12

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 35152348
Variant Present in the following documents:
  • Main text
  • 18_2022_Article_4173.pdf
View BVdb publication page



The PRY/SPRY domain of pyrin/TRIM20 interacts with β2-microglobulin to promote inflammasome formation.

Scientific Reports
Samukawa, Sei S; Yoshimi, Ryusuke R; Kirino, Yohei Y; Nakajima, Hideaki H
Publication Date: 2021-12-08

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34880353
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_3073.pdf
View BVdb publication page



Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia.

Central-European Journal Of Immunology
Gowin, Ewelina E; Bąbol-Pokora, Katarzyna K; Januszkiewicz-Lewandowska, Danuta D
Publication Date: 2021

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34764798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.

Frontiers In Immunology
Wang, Yumei Y; Wu, Na N; Yu, Keyi K; Shen, Min M
Publication Date: 2021

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34745107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular biology of autoinflammatory diseases.

Inflammation And Regeneration
Masumoto, Junya J; Zhou, Wei W; Morikawa, Shinnosuke S; Hosokawa, Sho S; Taguchi, Haruka H; Yamamoto, Toshihiro T; Kurata, Mie M; Kaneko, Naoe N
Publication Date: 2021-10-11

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34635190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Pediatric Rheumatology Online Journal
Zhang, Dan D; Su, Gaixiu G; Liu, Yan Y; Lai, Jianming J
Publication Date: 2021-10-07

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34620178
Variant Present in the following documents:
  • Main text
  • 12969_2021_Article_636.pdf
View BVdb publication page



Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

World Journal Of Clinical Cases
Lu, Ling-Yun LY; Tang, Xue-Yang XY; Luo, Guo-Jing GJ; Tang, Meng-Jia MJ; Liu, Yi Y; Yu, Xi-Jie XJ
Publication Date: 2021-08-06

Variant appearance in text: PSTPIP1: 748G>C
PubMed Link: 34435004
Variant Present in the following documents:
  • Main text
  • WJCC-9-6393.pdf
View BVdb publication page



Role of the F-BAR Family Member PSTPIP2 in Autoinflammatory Diseases.

Frontiers In Immunology
Xu, Jie-Jie JJ; Li, Hai-Di HD; Du, Xiao-Sa XS; Li, Juan-Juan JJ; Meng, Xiao-Ming XM; Huang, Cheng C; Li, Jun J
Publication Date: 2021

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34262554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammasomes in Alveolar Bone Loss.

Frontiers In Immunology
Li, Yang Y; Ling, Junqi J; Jiang, Qianzhou Q
Publication Date: 2021

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 34177950
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Pyrin Inflammasome in Health and Disease.

Frontiers In Immunology
Schnappauf, Oskar O; Chae, Jae Jin JJ; Kastner, Daniel L DL; Aksentijevich, Ivona I
Publication Date: 2019

Variant appearance in text: PSTPIP1: Glu250Gln
PubMed Link: 31456795
Variant Present in the following documents:
  • Main text
  • fimmu-10-01745.pdf
View BVdb publication page



Mechanisms of Inflammation in Neutrophil-Mediated Skin Diseases.

Frontiers In Immunology
Marzano, Angelo V AV; Ortega-Loayza, Alex G AG; Heath, Michael M; Morse, Daniel D; Genovese, Giovanni G; Cugno, Massimo M
Publication Date: 2019

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 31139187
Variant Present in the following documents:
  • Main text
  • fimmu-10-01059.pdf
View BVdb publication page



Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications
, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P
Publication Date: 2019-01-02

Variant appearance in text: PAPAS: E250Q
PubMed Link: 30602777
Variant Present in the following documents:
  • 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: PSTPIP1: 748G>C; E250Q
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PAPAS: E250Q; rs28939089
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

The Journal Of Allergy And Clinical Immunology
Holzinger, Dirk D; Fassl, Selina Kathleen SK; de Jager, Wilco W; Lohse, Peter P; Röhrig, Ute F UF; Gattorno, Marco M; Omenetti, Alessia A; Chiesa, Sabrina S; Schena, Francesca F; Austermann, Judith J; Vogl, Thomas T; Kuhns, Douglas B DB; Holland, Steven M SM; Rodríguez-Gallego, Carlos C; López-Almaraz, Ricardo R; Arostegui, Juan I JI; Colino, Elena E; Roldan, Rosa R; Fessatou, Smaragdi S; Isidor, Bertrand B; Poignant, Sylvaine S; Ito, Koichi K; Epple, Hans-Joerg HJ; Bernstein, Jonathan A JA; Jeng, Michael M; Frankovich, Jennifer J; Lionetti, Geraldina G; Church, Joseph A JA; Ong, Peck Y PY; LaPlant, Mona M; Abinun, Mario M; Skinner, Rod R; Bigley, Venetia V; Sachs, Ulrich J UJ; Hinze, Claas C; Hoppenreijs, Esther E; Ehrchen, Jan J; Foell, Dirk D; Chae, Jae Jin JJ; Ombrello, Amanda A; Aksentijevich, Ivona I; Sunderkoetter, Cord C; Roth, Johannes J
Publication Date: 2015-11

Variant appearance in text: PSTPIP1: 748G>C; E250Q
PubMed Link: 26025129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

Medicine
Marzano, Angelo V AV; Ceccherini, Isabella I; Gattorno, Marco M; Fanoni, Daniele D; Caroli, Francesco F; Rusmini, Marta M; Grossi, Alice A; De Simone, Clara C; Borghi, Orietta M OM; Meroni, Pier Luigi PL; Crosti, Carlo C; Cugno, Massimo M
Publication Date: 2014-12

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 25501066
Variant Present in the following documents:
  • medi-93-e187.pdf
View BVdb publication page



The BAR Domain Superfamily Proteins from Subcellular Structures to Human Diseases.

Membranes
Safari, Fatemeh F; Suetsugu, Shiro S
Publication Date: 2012-02-27

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 24957964
Variant Present in the following documents:
  • Main text
  • membranes-02-00091.pdf
View BVdb publication page



Monogenic autoinflammatory diseases: concept and clinical manifestations.

Clinical Immunology (Orlando, Fla.)
Almeida de Jesus, Adriana A; Goldbach-Mansky, Raphaela R
Publication Date: 2013-06

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 23711932
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins.

The Journal Of Biological Chemistry
Wang, Donghai D; Höing, Susanne S; Patterson, Heide Christine HC; Ahmad, Umtul M UM; Rathinam, Vijay A K VA; Rajewsky, Klaus K; Fitzgerald, Katherine A KA; Golenbock, Douglas T DT
Publication Date: 2013-02-15

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 23293022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

Arthritis And Rheumatism
Demidowich, Andrew P AP; Freeman, Alexandra F AF; Kuhns, Douglas B DB; Aksentijevich, Ivona I; Gallin, John I JI; Turner, Maria L ML; Kastner, Daniel L DL; Holland, Steven M SM
Publication Date: 2012-06

Variant appearance in text: PSTPIP1: 748G>C; E250Q
PubMed Link: 22161697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Current Genomics
Smith, Elisabeth J EJ; Allantaz, Florence F; Bennett, Lynda L; Zhang, Dongping D; Gao, Xiaochong X; Wood, Geryl G; Kastner, Daniel L DL; Punaro, Marilynn M; Aksentijevich, Ivona I; Pascual, Virginia V; Wise, Carol A CA
Publication Date: 2010-11

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 21532836
Variant Present in the following documents:
  • Main text
  • CG-11-519.pdf
View BVdb publication page



Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome.

Arthritis And Rheumatism
Cortesio, Christa L CL; Wernimont, Sarah A SA; Kastner, Daniel L DL; Cooper, Kate M KM; Huttenlocher, Anna A
Publication Date: 2010-08

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 20506269
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

Annals Of The Rheumatic Diseases
Ryan, J G JG; Masters, S L SL; Booty, M G MG; Habal, N N; Alexander, J D JD; Barham, B K BK; Remmers, E F EF; Barron, K S KS; Kastner, D L DL; Aksentijevich, I I
Publication Date: 2010-07

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 19934105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pyrin Modulates the Intracellular Distribution of PSTPIP1.

Plos One
Waite, Andrea L AL; Schaner, Philip P; Richards, Neil N; Balci-Peynircioglu, Banu B; Masters, Seth L SL; Brydges, Susannah D SD; Fox, Michelle M; Hong, Arthur A; Yilmaz, Engin E; Kastner, Daniel L DL; Reinherz, Ellis L EL; Gumucio, Deborah L DL
Publication Date: 2009-07-07

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 19584923
Variant Present in the following documents:
  • Main text
  • pone.0006147.pdf
View BVdb publication page



The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.

Molecular Biology Of The Cell
Cooper, Kate M KM; Bennin, David A DA; Huttenlocher, Anna A
Publication Date: 2008-08

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 18480402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.

Molecular Cell
Yu, Je-Wook JW; Fernandes-Alnemri, Teresa T; Datta, Pinaki P; Wu, Jianghong J; Juliana, Christine C; Solorzano, Leobaldo L; McCormick, Margaret M; Zhang, ZhiJia Z; Alnemri, Emad S ES
Publication Date: 2007-10-26

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 17964261
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autoinflammatory gene mutations in Behçet's disease.

Annals Of The Rheumatic Diseases
Koné-Paut, I I; Sanchez, E E; Le Quellec, A A; Manna, R R; Touitou, I I
Publication Date: 2007-06

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 17213252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease.

Blood
Grosse, Johannes J; Chitu, Violeta V; Marquardt, Andreas A; Hanke, Petra P; Schmittwolf, Carolin C; Zeitlmann, Lutz L; Schropp, Patricia P; Barth, Bettina B; Yu, Philipp P; Paffenholz, Rainer R; Stumm, Gabriele G; Nehls, Michael M; Stanley, E Richard ER
Publication Date: 2006-04-15

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 16397132
Variant Present in the following documents:
  • Main text
View BVdb publication page



A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.

Bone
Ferguson, Polly J PJ; Bing, Xinyu X; Vasef, Mohammed A MA; Ochoa, Luis A LA; Mahgoub, Amar A; Waldschmidt, Thomas J TJ; Tygrett, Lorraine T LT; Schlueter, Annette J AJ; El-Shanti, Hatem H
Publication Date: 2006-01

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 16122996
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shoham, Nitza G NG; Centola, Michael M; Mansfield, Elizabeth E; Hull, Keith M KM; Wood, Geryl G; Wise, Carol A CA; Kastner, Daniel L DL
Publication Date: 2003-11-11

Variant appearance in text: PSTPIP1: E250Q
PubMed Link: 14595024
Variant Present in the following documents:
  • Main text
View BVdb publication page