rs121908415
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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 |
rs121908415
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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 |
rs121908416
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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 |
rs112545413
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
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 |
rs121908417
|
ACTN4;LOC107985291
|
Focal glomerulosclerosis
|
|
0.010 |
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 |