LRRK2 c.1630A>G ;(p.K544E)

Variant ID: 12-40657677-A-G

NM_198578.3(LRRK2):c.1630A>G;(p.K544E)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LRRK2: K544E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Lys544Glu
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
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Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Frontiers In Neurology
Guadagnolo, Daniele D; Piane, Maria M; Torrisi, Maria Rosaria MR; Pizzuti, Antonio A; Petrucci, Simona S
Publication Date: 2021

Variant appearance in text: LRRK2: K544E
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
  • fneur-12-648588.pdf
View BVdb publication page



A motif within the armadillo repeat of Parkinson's-linked LRRK2 interacts with FADD to hijack the extrinsic death pathway.

Scientific Reports
Antoniou, Nasia N; Vlachakis, Dimitrios D; Memou, Anna A; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Melachroinou, Katerina K; Re, Diane B DB; Przedborski, Serge S; Dauer, William T WT; Stefanis, Leonidas L; Rideout, Hardy J HJ
Publication Date: 2018-02-22

Variant appearance in text: LRRK2: K544E
PubMed Link: 29472595
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21931.pdf
  • 41598_2018_21931_MOESM1_ESM.pdf
View BVdb publication page



Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One
Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ
Publication Date: 2016

Variant appearance in text: LRRK2: K544E
PubMed Link: 27832104
Variant Present in the following documents:
  • Main text
  • pone.0166053.pdf
View BVdb publication page



Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology
Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,
Publication Date: 2011-10

Variant appearance in text: LRRK2: K544E; rs79996249
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07

Variant appearance in text: LRRK2: 1630A>G; K544E
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page