Research Article

[Retracted] Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy

Table 1

ACTN4 mutations detected from PNS patients. Five types of ACTN4 mutations were detected in samples obtained from 155 PNS patients which were then classified into groups: FSGS, minimal change nephropathy, IgA nephropathy, membranous nephropathy, and without rental puncture. Mutation areas and related functions are listed and mutated patient’s numbers are documented. represents a mutation detected from the same patients.

Gene regionFunctionPredicted protein variants: NM_001322033 NM_004924SNP IDFSGSMinimal change nephropathyIgA nephropathyMembranous nephropathyWithout renal puncture

ExonicNonsynonymous SNVExon13:c.1516 G > A (p.G506S)rs75334835411
SplicingExon12:c.1442 + 10G > Ars7725246531
SplicingExon18:c.2191-4G > Ars3717799342
ExonicNonsynonymous SNVExon14:c.1649 A > G (p.D550 G)2
ExonicNonsynonymous SNVExon18:c.2315 C > T (p.A772 V)rs7609463292