MPO c.1555_1568del ;(p.M519Pfs*21)

Variant ID: 17-56350827-GGGGTTGGGTTCCAT-G

NM_000250.1(MPO):c.1555_1568del;(p.M519Pfs*21)

This variant was identified in 11 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: MPO: 1555_1568del; Met519fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: MPO: 1555_1568del
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



An update on genetic basis of generalized pustular psoriasis (Review).

International Journal Of Molecular Medicine
Zhou, Jiahong J; Luo, Qing Q; Cheng, Yang Y; Wen, Xia X; Liu, Jinbo J
Publication Date: 2021-06

Variant appearance in text: MPO: 1555_1568del; Met519Profs
PubMed Link: 33955502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.

European Journal Of Human Genetics : Ejhg
Spedicati, Beatrice B; Cocca, Massimiliano M; Palmisano, Roberto R; Faletra, Flavio F; Barbieri, Caterina C; Francescatto, Margherita M; Mezzavilla, Massimo M; Morgan, Anna A; Pelliccione, Giulia G; Gasparini, Paolo P; Girotto, Giorgia G
Publication Date: 2021-08

Variant appearance in text: MPO: 1552_1565del
PubMed Link: 33727708
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_850.pdf
View BVdb publication page



Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.

European Journal Of Human Genetics : Ejhg
Spedicati, Beatrice B; Cocca, Massimiliano M; Palmisano, Roberto R; Faletra, Flavio F; Barbieri, Caterina C; Francescatto, Margherita M; Mezzavilla, Massimo M; Morgan, Anna A; Pelliccione, Giulia G; Gasparini, Paolo P; Girotto, Giorgia G
Publication Date: 2021-08

Variant appearance in text: MPO: 1552_1565del
PubMed Link: 33727708
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_850.pdf
View BVdb publication page



Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Camp, Sabrina Y SY; Kofman, Eric E; Reardon, Brendan B; Moore, Nathanael D ND; Al-Rubaish, Abdullah M AM; Aljumaan, Mohammed M; Al-Ali, Amein K AK; Van Allen, Eliezer M EM; Taylor-Weiner, Amaro A; AlDubayan, Saud H SH
Publication Date: 2021-05

Variant appearance in text: MPO: 1555_1568del
PubMed Link: 33531667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

American Journal Of Human Genetics
Vergnano, Marta M; Mockenhaupt, Maja M; Benzian-Olsson, Natashia N; Paulmann, Maren M; Grys, Katarzyna K; Mahil, Satveer K SK; Chaloner, Charlotte C; Barbosa, Ines A IA; August, Suzannah S; Burden, A David AD; Choon, Siew-Eng SE; Cooper, Hywel H; Navarini, Alex A AA; Reynolds, Nick J NJ; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; , ; Huffmeier, Ulrike U; Baum, Patrick P; Visvanathan, Sudha S; Barker, Jonathan N JN; Smith, Catherine H CH; Capon, Francesca F
Publication Date: 2020-09-03

Variant appearance in text: MPO: 1555_1568del; Met519Profs
PubMed Link: 32758448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

American Journal Of Human Genetics
Haskamp, Stefan S; Bruns, Heiko H; Hahn, Madelaine M; Hoffmann, Markus M; Gregor, Anne A; Löhr, Sabine S; Hahn, Jonas J; Schauer, Christine C; Ringer, Mark M; Flamann, Cindy C; Frey, Benjamin B; Lesner, Adam A; Thiel, Christian T CT; Ekici, Arif B AB; von Hörsten, Stephan S; Aßmann, Gunter G; Riepe, Claudia C; Euler, Maximilien M; Schäkel, Knut K; Philipp, Sandra S; Prinz, Jörg C JC; Mößner, Rotraut R; Kersting, Florina F; Sticherling, Michael M; Sefiani, Abdelaziz A; Lyahyai, Jaber J; Sondermann, Wiebke W; Oji, Vinzenz V; Schulz, Peter P; Wilsmann-Theis, Dagmar D; Sticht, Heinrich H; Schett, Georg G; Reis, André A; Uebe, Steffen S; Frey, Silke S; Hüffmeier, Ulrike U
Publication Date: 2020-09-03

Variant appearance in text: MPO: 1555_1568del; Met519Profs*21
PubMed Link: 32758447
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: MPO: 1555_1568delATGGAACCCAACCC; Met519fs
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MPO: 1555_1568delATGGAACCCAACCC; Met519fs
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: MPO: 1555_1568del; M519fs
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MPO: 1555_1568del
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page