APP c.1655C>G ;(p.P552R)

Variant ID: 21-27326936-G-C

NM_000484.3(APP):c.1655C>G;(p.P552R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Acta Neuropathologica
van der Lee, Sven J SJ; Conway, Olivia J OJ; Jansen, Iris I; Carrasquillo, Minerva M MM; Kleineidam, Luca L; van den Akker, Erik E; Hernández, Isabel I; van Eijk, Kristel R KR; Stringa, Najada N; Chen, Jason A JA; Zettergren, Anna A; Andlauer, Till F M TFM; Diez-Fairen, Monica M; Simon-Sanchez, Javier J; Lleó, Alberto A; Zetterberg, Henrik H; Nygaard, Marianne M; Blauwendraat, Cornelis C; Savage, Jeanne E JE; Mengel-From, Jonas J; Moreno-Grau, Sonia S; Wagner, Michael M; Fortea, Juan J; Keogh, Michael J MJ; Blennow, Kaj K; Skoog, Ingmar I; Friese, Manuel A MA; Pletnikova, Olga O; Zulaica, Miren M; Lage, Carmen C; de Rojas, Itziar I; Riedel-Heller, Steffi S; Illán-Gala, Ignacio I; Wei, Wei W; Jeune, Bernard B; Orellana, Adelina A; Then Bergh, Florian F; Wang, Xue X; Hulsman, Marc M; Beker, Nina N; Tesi, Niccolo N; Morris, Christopher M CM; Indakoetxea, Begoña B; Collij, Lyduine E LE; Scherer, Martin M; Morenas-Rodríguez, Estrella E; Ironside, James W JW; van Berckel, Bart N M BNM; Alcolea, Daniel D; Wiendl, Heinz H; Strickland, Samantha L SL; Pastor, Pau P; Rodríguez Rodríguez, Eloy E; , ; , ; , ; , ; , ; , ; Boeve, Bradley F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; van Gerpen, Jay A JA; Reinders, Marcel J T MJT; Uitti, Ryan J RJ; Tárraga, Lluís L; Maier, Wolfgang W; Dols-Icardo, Oriol O; Kawalia, Amit A; Dalmasso, Maria Carolina MC; Boada, Mercè M; Zettl, Uwe K UK; van Schoor, Natasja M NM; Beekman, Marian M; Allen, Mariet M; Masliah, Eliezer E; de Munain, Adolfo López AL; Pantelyat, Alexander A; Wszolek, Zbigniew K ZK; Ross, Owen A OA; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Knopman, David D; Rademakers, Rosa R; Lemstra, Afina W AW; Pijnenburg, Yolande A L YAL; Scheltens, Philip P; Gasser, Thomas T; Chinnery, Patrick F PF; Hemmer, Bernhard B; Huisman, Martijn A MA; Troncoso, Juan J; Moreno, Fermin F; Nohr, Ellen A EA; Sørensen, Thorkild I A TIA; Heutink, Peter P; Sánchez-Juan, Pascual P; Posthuma, Danielle D; , ; Clarimón, Jordi J; Christensen, Kaare K; Ertekin-Taner, Nilüfer N; Scholz, Sonja W SW; Ramirez, Alfredo A; Ruiz, Agustín A; Slagboom, Eline E; van der Flier, Wiesje M WM; Holstege, Henne H
Publication Date: 2019-08

Variant appearance in text: APP: Pro552Arg
PubMed Link: 31131421
Variant Present in the following documents:
  • Main text
  • 401_2019_Article_2026.pdf
View BVdb publication page



Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.

Alzheimer'S Research & Therapy
Magno, Lorenza L; Lessard, Christian B CB; Martins, Marta M; Lang, Verena V; Cruz, Pedro P; Asi, Yasmine Y; Katan, Matilda M; Bilsland, Jamie J; Lashley, Tammaryn T; Chakrabarty, Paramita P; Golde, Todd E TE; Whiting, Paul J PJ
Publication Date: 2019-02-02

Variant appearance in text: APP: P552R
PubMed Link: 30711010
Variant Present in the following documents:
  • Main text
  • 13195_2019_Article_469.pdf
View BVdb publication page