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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.