Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. 28060069

2017

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Among 24 clinical GCD patients, the proportion of R124H, R555Q, R124L, R555W and R124C were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively, and 2 patients had been diagnosed with GCD according to the opacities thriving after LASIK (R124H) and PRK (R555W). 28377594

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. 28358433

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2). 29196743

2017

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. 26207300

2015

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain. 24129074

2013

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1. 22355247

2012

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of LCD type 1 (V624M) and disease-free tissue controls were procured by laser capture microdissection and analyzed by tandem mass spectrometry. 22155582

2012

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1. 22355247

2012

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation. 19933198

2010

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE A recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations. 19951597

2009

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W. 16440005

2007

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy. 15564760

2005

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763

2005

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation. 15623763

2005

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. 15377440

2004

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 12709742

2003

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy. 14576527

2003

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy. 11820303

2002

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). 12225829

2002

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy. 11189007

2001

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation). 10889112

2000

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare. 11095060

2000

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation. 10832717

2000