TGFBI c.1501C>A ;(p.P501T)

Variant ID: 5-135391459-C-A

NM_000358.2(TGFBI):c.1501C>A;(p.P501T)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International Journal Of Molecular Sciences
Zhu, Di D; Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2023-03-06

Variant appearance in text: TGFBI: 1501C>A; Pro501Thr
PubMed Link: 36902444
Variant Present in the following documents:
  • Main text
  • ijms-24-05012.pdf
View BVdb publication page



Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications
Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05-26

Variant appearance in text: TGFBI: 1501C>A; P501T; rs121909212
PubMed Link: 35618720
Variant Present in the following documents:
  • 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.

Indian Journal Of Ophthalmology
Li, Feng F; He, Jiahuan J; Bai, Hua H; Huang, Yifei Y; Wang, Fang F; Tian, Lei L
Publication Date: 2022-01

Variant appearance in text: TGFBI: P501T
PubMed Link: 34937214
Variant Present in the following documents:
  • IJO-70-85.pdf
View BVdb publication page



Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.

The Journal Of Biological Chemistry
Nielsen, Nadia Sukusu NS; Gadeberg, Trine A F TAF; Poulsen, Ebbe Toftgaard ET; Harwood, Seandean Lykke SL; Weberskov, Christian E CE; Pedersen, Jan Skov JS; Andersen, Gregers R GR; Enghild, Jan J JJ
Publication Date: 2021-07

Variant appearance in text: TGFBI: P501T
PubMed Link: 34097874
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Frontiers In Cell And Developmental Biology
Li, Wei W; Qu, Ning N; Li, Jian-Kang JK; Li, Yu-Xin YX; Han, Dong-Ming DM; Chen, Yi-Xi YX; Tian, Le L; Shao, Kang K; Yang, Wen W; Wang, Zhuo-Shi ZS; Chen, Xuan X; Jin, Xiao-Ying XY; Wang, Zi-Wei ZW; Liang, Chen C; Qian, Wei-Ping WP; Wang, Lu-Sheng LS; He, Wei W
Publication Date: 2021

Variant appearance in text: TGFBI: 1501C>A; P501T
PubMed Link: 33816482
Variant Present in the following documents:
  • Main text
  • fcell-09-632946.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: TGFBI: P501T
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.

Cornea
Abad-Morales, Víctor V; Barbany, Miriam M; Gris, Oscar O; Güell, José Luis JL; Pomares, Esther E
Publication Date: 2021-03-01

Variant appearance in text: TGFBI: Pro501Thr
PubMed Link: 33346999
Variant Present in the following documents:
  • cornea-40-370.pdf
View BVdb publication page



A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iranian Journal Of Basic Medical Sciences
Mohammadi, Aliasgar A; Ahmadi Shadmehri, Azam A; Taghavi, Mahnaz M; Yaghoobi, Gholamhossein G; Pourreza, Mohammad Reza MR; Tabatabaiefar, Mohammad Amin MA
Publication Date: 2020-08

Variant appearance in text: LCD1: 1501C>A
PubMed Link: 32952948
Variant Present in the following documents:
  • Main text
  • IJBMS-23-1020.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: TGFBI: 1501C>A; Pro501Thr; rs121909212
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: TGFBI: P501T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
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: TGFBI: 1501C>A; Pro501Thr; rs121909212
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TGFBI: 1501C>A; Pro501Thr
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.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: TGFBI: P501T; rs121909212
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TGFBI: 1501C>A; Pro501Thr; rs121909212
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Scientific Reports
Christie, Kathleen A KA; Courtney, David G DG; DeDionisio, Larry A LA; Shern, Connie Chao CC; De Majumdar, Shyamasree S; Mairs, Laura C LC; Nesbit, M Andrew MA; Moore, C B Tara CBT
Publication Date: 2017-11-23

Variant appearance in text: TGFBI: P501T
PubMed Link: 29170458
Variant Present in the following documents:
  • 41598_2017_16279_MOESM1_ESM.pdf
View BVdb publication page



Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

International Journal Of Ophthalmology
Cao, Wen-Ping WP; Yuan, Hai-Gang HG; Liu, Ping P; Li, Xue X; Hu, Qi Q
Publication Date: 2017

Variant appearance in text: TGFBI: P501T
PubMed Link: 28393022
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TGFBI: 1501C>A; P501T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: TGFBI: P501T
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.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: rs121909212
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Lacritin and other autophagy associated proteins in ocular surface health.

Experimental Eye Research
Karnati, Roy R; Talla, Venu V; Peterson, Katherine K; Laurie, Gordon W GW
Publication Date: 2016-03

Variant appearance in text: TGFBI: P501T
PubMed Link: 26318608
Variant Present in the following documents:
  • Main text
View BVdb publication page



CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy
Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB
Publication Date: 2016-01

Variant appearance in text: TGFBI: P501T
PubMed Link: 26289666
Variant Present in the following documents:
  • gt201582x1.xls, sheet 1
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: TGFBI: P501T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: TGFBI: P501T; rs121909212
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
View BVdb publication page



TGFBI gene mutations in a Korean population with corneal dystrophy.

Molecular Vision
Cho, Kyong Jin KJ; Mok, Jee Won JW; Na, Kyung Sun KS; Rho, Chang Rae CR; Byun, Yong Soo YS; Hwang, Ho Sik HS; Hwang, Kyu Yeon KY; Joo, Choun-Ki CK
Publication Date: 2012

Variant appearance in text: LCD1: P501T
PubMed Link: 22876129
Variant Present in the following documents:
  • Main text
  • mv-v18-2012.pdf
View BVdb publication page



Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Molecular Vision
Hou, Yu-Chih YC; Wang, I-Jong IJ; Hsiao, Cheng-Hsiang CH; Chen, Wei-Li WL; Hu, Fung-Rong FR
Publication Date: 2012

Variant appearance in text: LCD1: P501T
PubMed Link: 22355247
Variant Present in the following documents:
  • Main text
  • mv-v18-362.pdf
View BVdb publication page



Unique TGFBI protein in lattice corneal dystrophy.

Investigative Ophthalmology & Visual Science
Han, Yu-Ping YP; Sim, Austin J AJ; Vora, Smita C SC; Huang, Andrew J W AJ
Publication Date: 2011-10-28

Variant appearance in text: LCD1: Pro501Thr
PubMed Link: 21948648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Journal Of Zhejiang University. Science. B
Long, Yan Y; Gu, Yang-Shun YS; Han, Wei W; Li, Xiu-Yi XY; Yu, Ping P; Qi, Ming M
Publication Date: 2011-04

Variant appearance in text: TGFBI: Pro501Thr
PubMed Link: 21462384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Molecular Vision
Yang, Juhua J; Han, Xiaoli X; Huang, Dinggou D; Yu, Lin L; Zhu, Yihua Y; Tong, Yi Y; Zhu, Binliang B; Li, Chuanbao C; Weng, Mingshe M; Ma, Xu X
Publication Date: 2010-06-30

Variant appearance in text: LCD1: P501T
PubMed Link: 20664689
Variant Present in the following documents:
  • Main text
View BVdb publication page



TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Molecular Vision
Ma, Ke K; Liu, Guo G; Yang, Yin Y; Yu, Man M; Sui, Ruifang R; Yu, Wenhan W; Chen, Xiaoming X; Deng, Yinping Y; Yan, Naihong N; Cao, Guiqun G; Liu, Xuyang X
Publication Date: 2010-03-31

Variant appearance in text: TGFBI: P501T
PubMed Link: 20360992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.

Molecular Vision
Yamada, Naoyuki N; Kawamoto, Koji K; Morishige, Naoyuki N; Chikama, Tai-ichiro T; Nishida, Teruo T; Nishioka, Mitsuaki M; Okayama, Naoko N; Hinoda, Yuji Y
Publication Date: 2009-05-15

Variant appearance in text: TGFBI: P501T
PubMed Link: 19461933
Variant Present in the following documents:
  • Main text
View BVdb publication page



The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: TGFBI: 1501C>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Molecular Vision
Liu, Zhe Z; Wang, Yi-qiang YQ; Gong, Qing-hua QH; Xie, Li-xin LX
Publication Date: 2008-06-30

Variant appearance in text: BIGH3: Pro501Thr
PubMed Link: 18615206
Variant Present in the following documents:
  • mv-v14-1234.pdf
View BVdb publication page



Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.

The British Journal Of Ophthalmology
Yamada, N N; Chikama, T-I TI; Morishige, N N; Yanai, R R; Nishida, T T; Inui, M M; Seki, K K
Publication Date: 2005-06

Variant appearance in text: TGFBI: P501T
PubMed Link: 15923518
Variant Present in the following documents:
  • Main text
View BVdb publication page



H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.

The British Journal Of Ophthalmology
Chau, H M HM; Ha, N T NT; Cung, L X LX; Thanh, T K TK; Fujiki, K K; Murakami, A A; Kanai, A A
Publication Date: 2003-06

Variant appearance in text: TGFBI: P501T
PubMed Link: 12770961
Variant Present in the following documents:
  • Main text
View BVdb publication page