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Table 1 Mutations in TRPC6 protein currently identified to cause proteinuric kidney disease

From: A novel TRPC6mutation in a family with podocytopathy and clinical variability

TRPC6 mutation Effect on ion channel function Level of evidence Ethnicity Phenotype Age at presentation (years) Reference
89fsX8 Not evaluated   Caucasian FSGS 7 [7]
G109S Probably damaging In silico scoring matrix Caucasian FSGS 25 [6]
N125S Probably damaging In silico scoring matrix Caucasian sporadic FSGS 41 [6]
Increased intracellular calcium In Vitro experiments Caucasian MCD and IgAN with MPGN-like pattern 4-14 [8]
M132T Increased current amplitude and delayed channel inactivation In Vitro experiments Caucasian AD FSGS 9-30 [5]
Not evaluated   Caucasian FSGS 8 [7]
P112Q Increased current amplitude In Vitro experiments Caucasian AD FSGS 30-40 [2]
N143S None identified In Vitro experiments African American AD FSGS 30-40 [3]
None identified In Vitro experiments Caucasian AD FSGS 27-39 [5]
H218L Increased intracellular calcium In Vitro experiments Caucasian sporadic FSGS 8 [8]
S270T None identified In Vitro experiments Latino AD FSGS 20-50 [3]
R360H Not evaluated   Not stated FSGS 34 [11]
L395A Not evaluated   Caucasian sporadic FSGS 2 [10]
G757D Not evaluated   Caucasian FSGS 1 [7]
L780P Possibly damaging In silico scoring matrix Caucasian sporadic FSGS 7 [6]
D873fsX878 Not evaluated    MCD 34-50 Present study
K874X None identified In Vitro experiments Caucasian AD FSGS 30-60 [3]
Q889K Increased current amplitude In Vitro experiments Chinese AD FSGS >12 [4]
R895C Increased current amplitude In Vitro experiments Latino AD FSGS 20-50 [3]
Not evaluated   Caucasian AD collapsing FSGS 21-38 [9]
R895L Increased intracellular calcium In Vitro experiments Caucasian sporadic collapsing FSGS 1 [8]
E897K Increased current amplitude In Vitro experiments Caucasian AD FSGS 25-35 [3]
  1. AD-Autosomal Dominant; FSGS-Focal Segmental Glomerulosclerosis; MCD-Minimal Change Disease; IgAN-IgA Nephropathy; MPGN-Membranoproliferative Glomerulosclerosis.