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: 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: 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: 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: 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: rs121909208
rs121909208
0.100 GeneticVariation BEFREE The three severely affected family members exhibited homozygous mutations at codon 555 (arginine to tryptophan) in the keratoepithelin gene, whereas those with typical granular corneal dystrophy had the heterozygous mutation at the same codon. 9727509

1998

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common. 9744382

1998