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: C0017668
Disease:
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
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 Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029 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 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: rs121908415
rs121908415
Entrez Id: 81;107985291
Gene Symbol: ACTN4;LOC107985291
ACTN4;LOC107985291
CUI: C0017668
Disease:
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
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
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 (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778 2012
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 (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778 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 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: 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: 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: rs34105297
rs34105297
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019