LRRK2 c.3342A>G ;(p.L1114=)

Variant ID: 12-40692290-A-G

NM_198578.3(LRRK2):c.3342A>G;(p.L1114=)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Genomic Markers for Essential Tremor.

Pharmaceuticals (Basel, Switzerland)
Jiménez-Jiménez, Félix Javier FJ; Alonso-Navarro, Hortensia H; García-Martín, Elena E; Álvarez, Ignacio I; Pastor, Pau P; Agúndez, José A G JAG
Publication Date: 2021-05-27

Variant appearance in text: LRRK2: L1114L
PubMed Link: 34072005
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00516.pdf
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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: L1114L
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Association of caffeine and related analytes with resistance to Parkinson disease among LRRK2 mutation carriers: A metabolomic study.

Neurology
Crotty, Grace F GF; Maciuca, Romeo R; Macklin, Eric A EA; Wang, Junhua J; Montalban, Manuel M; Davis, Sonnet S SS; Alkabsh, Jamal I JI; Bakshi, Rachit R; Chen, Xiqun X; Ascherio, Alberto A; Astarita, Giuseppe G; Huntwork-Rodriguez, Sarah S; Schwarzschild, Michael A MA
Publication Date: 2020-12-15

Variant appearance in text: LRRK2: L1114L
PubMed Link: 32999056
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2020103689.pdf
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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: LRRK2: 3342A>G; Leu1114=
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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Genetic Risk Factors for Essential Tremor: A Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Siokas, Vasileios V; Aloizou, Athina-Maria AM; Tsouris, Zisis Z; Liampas, Ioannis I; Aslanidou, Paraskevi P; Dastamani, Metaxia M; Brotis, Alexandros G AG; Bogdanos, Dimitrios P DP; Hadjigeorgiou, Georgios M GM; Dardiotis, Efthimios E
Publication Date: 2020-06-11

Variant appearance in text: LRRK2: L1114L
PubMed Link: 32775018
Variant Present in the following documents:
  • tohm-10-1-67-s2.pdf
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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: LRRK2: Leu1114Leu; rs35808389
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
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The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

Brain Sciences
García, Julio-César JC; Bustos, Rosa-Helena RH
Publication Date: 2018-12-13

Variant appearance in text: LRRK2: L1114L
PubMed Link: 30551598
Variant Present in the following documents:
  • Main text
  • brainsci-08-00222.pdf
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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Jama Neurology
Montaut, Solveig S; Tranchant, Christine C; Drouot, Nathalie N; Rudolf, Gabrielle G; Guissart, Claire C; Tarabeux, Julien J; Stemmelen, Tristan T; Velt, Amandine A; Fourrage, Cécile C; Nitschké, Patrick P; Gerard, Bénédicte B; Mandel, Jean-Louis JL; Koenig, Michel M; Chelly, Jamel J; Anheim, Mathieu M; ,
Publication Date: 2018-10-01

Variant appearance in text: LRRK2: L1114L
PubMed Link: 29913018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Essential tremor.

Handbook Of Clinical Neurology
Clark, Lorraine N LN; Louis, Elan D ED
Publication Date: 2018

Variant appearance in text: LRRK2: L1114L
PubMed Link: 29325613
Variant Present in the following documents:
  • Main text
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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs35808389
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



The genetics and neuropathology of Parkinson's disease.

Acta Neuropathologica
Houlden, Henry H; Singleton, Andrew B AB
Publication Date: 2012-09

Variant appearance in text: LRRK2: L1114L
PubMed Link: 22806825
Variant Present in the following documents:
  • Main text
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: L1114L; rs35808389
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: 3342A>G; rs35808389
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
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Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

Archives Of Neurology
Alcalay, Roy N RN; Mejia-Santana, Helen H; Tang, Ming Xin MX; Rosado, Llency L; Verbitsky, Miguel M; Kisselev, Sergey S; Ross, Barbara M BM; Louis, Elan D ED; Comella, Cynthia L CL; Colcher, Amy A; Jennings, Danna D; Nance, Martha A MA; Bressman, Susan S; Scott, William K WK; Tanner, Caroline C; Mickel, Susan F SF; Andrews, Howard F HF; Waters, Cheryl H CH; Fahn, Stanley S; Cote, Lucien J LJ; Frucht, Steven J SJ; Ford, Blair B; Rezak, Michael M; Novak, Kevin K; Friedman, Joseph H JH; Pfeiffer, Ronald R; Marsh, Laura L; Hiner, Bradley B; Siderowf, Andrew A; Caccappolo, Elise E; Ottman, Ruth R; Clark, Lorraine N LN; Marder, Karen S KS
Publication Date: 2009-12

Variant appearance in text: LRRK2: L1114L
PubMed Link: 20008657
Variant Present in the following documents:
  • Main text
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Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Parkinsonism & Related Disorders
Clark, Lorraine N LN; Kisselev, Sergey S; Park, Naeun N; Ross, Barbara B; Verbitsky, Miguel M; Rios, Eileen E; Alcalay, Roy N RN; Lee, Joseph H JH; Louis, Elan D ED
Publication Date: 2010-02

Variant appearance in text: LRRK2: L1114L
PubMed Link: 19527940
Variant Present in the following documents:
  • Main text
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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta
Biskup, Saskia S; West, Andrew B AB
Publication Date: 2009-07

Variant appearance in text: LRRK2: L1114L
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
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Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Archives Of Neurology
Wang, Yuanjia Y; Clark, Lorraine N LN; Louis, Elan D ED; Mejia-Santana, Helen H; Harris, Juliette J; Cote, Lucien J LJ; Waters, Cheryl C; Andrews, Howard H; Ford, Blair B; Frucht, Steven S; Fahn, Stanley S; Ottman, Ruth R; Rabinowitz, Daniel D; Marder, Karen K
Publication Date: 2008-04

Variant appearance in text: LRRK2: L1114L
PubMed Link: 18413468
Variant Present in the following documents:
  • Main text
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Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.

Neurology
Clark, L N LN; Ross, B M BM; Wang, Y Y; Mejia-Santana, H H; Harris, J J; Louis, E D ED; Cote, L J LJ; Andrews, H H; Fahn, S S; Waters, C C; Ford, B B; Frucht, S S; Ottman, R R; Marder, K K
Publication Date: 2007-09-18

Variant appearance in text: LRRK2: L1114L
PubMed Link: 17875915
Variant Present in the following documents:
  • Main text
View BVdb publication page