ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs112545413
rs112545413
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1568723797
rs1568723797
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1568725026
rs1568725026
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs878853159
rs878853159
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs201128110
rs201128110
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.700 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177 2000
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 2008
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 2008
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908417
rs121908417
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 2008
dbSNP: rs201128110
rs201128110
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.700 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 2008
dbSNP: rs201128110
rs201128110
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.700 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095 2008
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C0017668
Disease:
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
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C0017668
Disease:
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
dbSNP: rs112545413
rs112545413
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C0017668
Disease:
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
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
dbSNP: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778 2012
dbSNP: rs121908416
rs121908416
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C4551527
Disease:
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778 2012