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 |
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 |
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 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 |
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 |
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 R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
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 |