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 |
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
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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 |
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 |
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 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Nevertheless, the rare association of FSGS to a PAX2 mutation may reflect the modifier effect of p.R229Q in the homozygous state.
|
23800802 |
2013 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The podocin mutation R229Q may play a role in the pathogenesis of FSGS and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention.
|
23982418 |
2013 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.
|
20947785 |
2011 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS).
|
18726620 |
2008 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls.
|
12707396 |
2003 |
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 |
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 |
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress.
|
29873512 |
2018 |
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 |
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age.
|
24940801 |
2014 |
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 |
Natural mutations such as lysine 255 to glutamic acid (K to E), threonine 259 to isoleucine (T to I) and serine 262 to proline (S to P) that occur within the actin binding domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) in affected humans.
|
31664084 |
2019 |
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 |
rs114896482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls.
|
31216994 |
2019 |