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 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy.
|
15564760 |
2005 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.
|
11820303 |
2002 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
|
28060069 |
2017 |
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 |
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 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
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 |
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
|
12709742 |
2003 |
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 |
rs121909209
|
|
|
0.010 |
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 |
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
|
26207300 |
2015 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
|
28358433 |
2017 |
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 |
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
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 |