|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs267602852
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs530391015
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs71785313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs748106387
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs75462234
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs866294686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids.
|
12464671 |
2002 |
|
rs74315342
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R138Q carriers were more frequent among FSGS cases relative to controls (OR = 4.9, P = 0.06), but heterozygosity for the other four missense mutations was equally distributed among FSGS cases and controls.
|
17942957 |
2007 |
|
rs1003629254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A compound heterozygous podocin mutation was identified in our FSGS patient, leading to a truncated (podocin (V165X)) and a missense mutant protein (podocin (R168H)), respectively.
|
19674119 |
2009 |
|
rs530318579
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A compound heterozygous podocin mutation was identified in our FSGS patient, leading to a truncated (podocin (V165X)) and a missense mutant protein (podocin (R168H)), respectively.
|
19674119 |
2009 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A putative kinase target site at Y265 in the actin binding domain was also generated as a phosphomimetic ACTN4 Y265E that demonstrated even greater binding to actin filaments than K255E and the other FSGS mutants.
|
31664084 |
2019 |
|
rs2239785
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
|
20668430 |
2010 |
|
rs112545413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, two FSGS-associated α-actinin-4 mutations (R310Q and Q348R) inhibited the complex formation between α-actinin-4 and CLP36.
|
21680739 |
2011 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient.
|
27977723 |
2016 |
|
rs748203170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously.
|
18823551 |
2008 |
|
rs920479356
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously.
|
18823551 |
2008 |
|
rs1222213359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we have not proved any significant influence of the polymorphisms at positions -2578 C/A and -1154 G/A of the vascular endothelial growth factor gene promoter on the progression of chronic glomerulonephritides even though our study suggests a negative effect of CC genotype of -2578 C/A polymorphism on the clinical course of minimal change disease/focal segmental glomerulosclerosis.
|
21978756 |
2011 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
|
rs121908416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
|
rs1131692055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene.
|
30399566 |
2018 |
|
rs267607555
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a large pedigree with a pathogenic mutation in LMNA (R349W) in which four members were found to have biopsy-proven FSGS.
|
24080738 |
2013 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS.
|
24715228 |
2014 |
|
rs754313620
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, a mutation in TRNL1 (m. 3290T>C) was identified, which was the first reported variant associated with FSGS.
|
29138824 |
2018 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In this paper, we present the currently known pathogenic and benign associations, and show that a rare p.R229Q association can be considered pathogenic if the variant in trans meets the following criteria; it affects the 270-351 residues and alters but does not disrupt the oligomerization, its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis, but is expected to be rare in the general population (<1:10<sup>6</sup> ).
|
30260545 |
2018 |