Table 1.

Mutations in TRPC6 leading to glomeruli injury.

Mutation	Type	Injury/Phenotype	Reference
P112Q	Gain-of-Function	Focal segmental glomerulosclerosis (FSGS)	[23]
R895C, E897K	Gain-of-Function	Familial FSGS	[27]
N143S, S270T, K874X	Currents did not differ from wild-type	Familial FSGS	[27]
M132T	Gain-of-Function	Childhood FSGS	[24, 93]
Multiple; G757D	5 out 19 mutations (N125S, L395A, G757D, L780P, and R895L) caused a LOF phenotype, while others had GOF	FSGS; prevalent in patients with steroid-resistant nephrotic syndrome (SRNS)	[61]
P15S	polymorphism	FSGS; “influence on the therapeutic response of FSGS patients”	[94]
N110H	Gain-of-Function	autosomal dominant FSGS	[95]
G109S N125S L780P	Missense substitutions; non-conservative change	Children and adults with non-familial FSGS	[96]
R175Q	Gain-of-Function	Autosomal dominant FSGS	[97]
R360H		FSGS and nephrotic syndrome (NS)	[98]
H218L, R895L	Gain-of-Function	FSGS; detected in children with early-onset and sporadic SRNS	[99]
A404V	polymorphism	FSGS; familial and sporadic SRNS patients	[100]
C121S, D130V, G162R, I111I	Missense nonsynonymous and synonymous mutations	FSGS	[101]
Q889K	Gain-of-Function	Late onset familial FSGS	[102]