RPE65 c.1543C>T ;(p.R515W)

Variant ID: 1-68895518-G-A

NM_000329.2(RPE65):c.1543C>T;(p.R515W)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Voretigene Neparvovec for the Treatment of RPE65-Associated Retinal Dystrophy: Consensus and Recommendations from Korea RPE65-IRD Consensus Paper Committee.

Korean Journal Of Ophthalmology : Kjo
Han, Jinu J; Joo, Kwangsic K; Kim, Ungsoo Samuel US; Woo, Se Joon SJ; Lee, Eun Kyoung EK; Lee, Joo Yong JY; Park, Tae Kwann TK; Kim, Sang Jin SJ; Byeon, Suk Ho SH; ,
Publication Date: 2023-03-23

Variant appearance in text: RPE65: R515W
PubMed Link: 36950921
Variant Present in the following documents:
  • kjo-2023-0008.pdf
View BVdb publication page



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: RPE65: 1543C>T; Arg515Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: RPE65: 1543C>T; Arg515Trp; rs121917745
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.

Biomedicines
Gerhardt, Maximilian J MJ; Priglinger, Claudia S CS; Rudolph, Günther G; Hufendiek, Karsten K; Framme, Carsten C; Jägle, Herbert H; Salchow, Daniel J DJ; Anschütz, Andreas A; Michalakis, Stylianos S; Priglinger, Siegfried G SG
Publication Date: 2022-12-30

Variant appearance in text: RPE65: 1543C>T
PubMed Link: 36672611
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00103.pdf
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.

Scientific Reports
Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Iovino, Claudio C; Farinaro, Francesco F; Karali, Marianthi M; Banfi, Sandro S; Rossi, Settimio S; Della Corte, Michele M; Simonelli, Francesca F
Publication Date: 2022-10-21

Variant appearance in text: RPE65: Arg515Trp
PubMed Link: 36271235
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_22180.pdf
View BVdb publication page



RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Murro, Vittoria V; Signorini, Sabrina S; Colombo, Leonardo L; Iarossi, Giancarlo G; Parmeggiani, Francesco F; Falsini, Benedetto B; Salvetti, Anna Paola AP; Brunetti-Pierri, Raffaella R; Aprile, Giorgia G; Bertone, Chiara C; Suppiej, Agnese A; Romano, Francesco F; Karali, Marianthi M; Donati, Simone S; Melillo, Paolo P; Sodi, Andrea A; Quaranta, Luciano L; Rossetti, Luca L; Buzzonetti, Luca L; Chizzolini, Marzio M; Rizzo, Stanislao S; Staurenghi, Giovanni G; Banfi, Sandro S; Azzolini, Claudio C; Simonelli, Francesca F
Publication Date: 2022-02-01

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 35129589
Variant Present in the following documents:
  • Main text
View BVdb publication page



RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Murro, Vittoria V; Signorini, Sabrina S; Colombo, Leonardo L; Iarossi, Giancarlo G; Parmeggiani, Francesco F; Falsini, Benedetto B; Salvetti, Anna Paola AP; Brunetti-Pierri, Raffaella R; Aprile, Giorgia G; Bertone, Chiara C; Suppiej, Agnese A; Romano, Francesco F; Karali, Marianthi M; Donati, Simone S; Melillo, Paolo P; Sodi, Andrea A; Quaranta, Luciano L; Rossetti, Luca L; Buzzonetti, Luca L; Chizzolini, Marzio M; Rizzo, Stanislao S; Staurenghi, Giovanni G; Banfi, Sandro S; Azzolini, Claudio C; Simonelli, Francesca F
Publication Date: 2022-02-01

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 35129589
Variant Present in the following documents:
  • Main text
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: RPE65: R515W; rs121917745
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.

Journal Of Clinical Medicine
Shi, Jie J; Xu, Ke K; Hu, Jian-Ping JP; Xie, Yue Y; Zhang, Xin X; Zhang, Xiao-Hui XH; Jin, Zi-Bing ZB; Li, Yang Y
Publication Date: 2021-11-10

Variant appearance in text: RPE65: Arg515Trp
PubMed Link: 34830511
Variant Present in the following documents:
  • Main text
  • jcm-10-05229.pdf
View BVdb publication page



Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 33608557
Variant Present in the following documents:
  • 41525_2021_180_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Scientific Reports
Numa, Shogo S; Oishi, Akio A; Higasa, Koichiro K; Oishi, Maho M; Miyata, Manabu M; Hasegawa, Tomoko T; Ikeda, Hanako Ohashi HO; Otsuka, Yuki Y; Matsuda, Fumihiko F; Tsujikawa, Akitaka A
Publication Date: 2020-11-27

Variant appearance in text: rs121917745
PubMed Link: 33247286
Variant Present in the following documents:
  • 41598_2020_77558_MOESM1_ESM.pdf
View BVdb publication page



Retinal Structure in RPE65-Associated Retinal Dystrophy.

Investigative Ophthalmology & Visual Science
Kumaran, Neruban N; Georgiou, Michalis M; Bainbridge, James W B JWB; Bertelsen, Mette M; Larsen, Michael M; Blanco-Kelly, Fiona F; Ayuso, Carmen C; Tran, Hoai Viet HV; Munier, Francis L FL; Kalitzeos, Angelos A; Michaelides, Michel M
Publication Date: 2020-04-09

Variant appearance in text: RPE65: 1543C>T
PubMed Link: 32347917
Variant Present in the following documents:
  • Main text
  • iovs-61-4-47.pdf
View BVdb publication page



Monitoring progression of retinitis pigmentosa: current recommendations and recent advances.

Expert Opinion On Orphan Drugs
Menghini, Moreno M; Cehajic-Kapetanovic, Jasmina J; MacLaren, Robert E RE
Publication Date: 2020

Variant appearance in text: RPE65: 1543C>T
PubMed Link: 32231889
Variant Present in the following documents:
  • Main text
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: RPE65: 1543C>T; rs121917745
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.

Acta Ophthalmologica
Li, Shiqiang S; Xiao, Xueshan X; Yi, Zhen Z; Sun, Wenmin W; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2020-03

Variant appearance in text: RPE65: 1543C>T; Arg515Trp; rs121917745
PubMed Link: 31273949
Variant Present in the following documents:
  • Main text
  • AOS-98-e181.pdf
View BVdb publication page



An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology
Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q
Publication Date: 2019-03

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 31106028
Variant Present in the following documents:
  • tvst-08-02-12_s02.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: RPE65: R515W; rs121917745
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

American Journal Of Ophthalmology
Chung, Daniel C DC; Bertelsen, Mette M; Lorenz, Birgit B; Pennesi, Mark E ME; Leroy, Bart P BP; Hamel, Christian P CP; Pierce, Eric E; Sallum, Juliana J; Larsen, Michael M; Stieger, Knut K; Preising, Markus M; Weleber, Richard R; Yang, Paul P; Place, Emily E; Liu, Emily E; Schaefer, Grace G; DiStefano-Pappas, Julie J; Elci, Okan U OU; McCague, Sarah S; Wellman, Jennifer A JA; High, Katherine A KA; Reape, Kathleen Z KZ
Publication Date: 2019-03

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 30268864
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.

Investigative Ophthalmology & Visual Science
Kumaran, Neruban N; Rubin, Gary S GS; Kalitzeos, Angelos A; Fujinami, Kaoru K; Bainbridge, James W B JWB; Weleber, Richard G RG; Michaelides, Michel M
Publication Date: 2018-07-02

Variant appearance in text: RPE65: 1543C>T
PubMed Link: 30025081
Variant Present in the following documents:
  • i1552-5783-59-8-3330.pdf
View BVdb publication page



Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Molecular Vision
Katagiri, Satoshi S; Hosono, Katsuhiro K; Hayashi, Takaaki T; Kurata, Kentaro K; Mizobuchi, Kei K; Matsuura, Tomokazu T; Yoshitake, Kazutoshi K; Iwata, Takeshi T; Nakano, Tadashi T; Hotta, Yoshihiro Y
Publication Date: 2018

Variant appearance in text: RPE65: 1543C>T
PubMed Link: 29681726
Variant Present in the following documents:
  • Main text
  • mv-v24-286.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RPE65: 1543C>T; Arg515Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: LCA2: R515W
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

European Journal Of Human Genetics : Ejhg
Astuti, Galuh D N GD; Bertelsen, Mette M; Preising, Markus N MN; Ajmal, Muhammad M; Lorenz, Birgit B; Faradz, Sultana M H SM; Qamar, Raheel R; Collin, Rob W J RW; Rosenberg, Thomas T; Cremers, Frans P M FP
Publication Date: 2016-07

Variant appearance in text: RPE65: 1543C>T; R515W
PubMed Link: 26626312
Variant Present in the following documents:
  • Main text
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: RPE65: R515W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.

Journal Of Biochemistry
Li, Songhua S; Hu, Jane J; Jin, Robin J RJ; Aiyar, Ashok A; Jacobson, Samuel G SG; Bok, Dean D; Jin, Minghao M
Publication Date: 2015-08

Variant appearance in text: RPE65: R515W
PubMed Link: 25752820
Variant Present in the following documents:
  • Main text
View BVdb publication page