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 | Â | 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 | Â | 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 | Â | Not stated | FSGS | 34 | [11] |
L395A | Not evaluated | Â | Caucasian | sporadic FSGS | 2 | [10] |
G757D | Not evaluated | Â | Caucasian | FSGS | 1 | [7] |
L780P | Possibly damaging | In silico scoring matrix | Caucasian | sporadic FSGS | 7 | [6] |
D873fsX878 | Not evaluated | Â | Â | 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 | Â | 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] |