Table 3.
Rare heterozygous RCAN variants in NS cohorts
| Study Number | Phenotype | Variant | Allele Count | gnomAD MAF (All) | PolyPhen | SIFT | MutationTaster | Conservation |
|---|---|---|---|---|---|---|---|---|
| 159 | SRNS, MCD | RCAN2 | 0 | 0.000000 | Damaging | Probably damaging | Disease causing | Zebrafish |
| c.C445A | ||||||||
| p.P149T | ||||||||
| 260 | SRNS, FSGS | RCAN2 | 2 of 248,944 | 0.000008 | Damaging | Probably damaging | Disease causing | Frog |
| c.A728C | ||||||||
| p.N243H | ||||||||
| 3 | NS | RCAN2 | 3 of 249,306 | 0.00001 | Damaging | Probably damaging | Disease causing | Zebrafish |
| c.C700T | ||||||||
| p.R234H | ||||||||
| 459 | SSNS, FR/SD | RCAN3 | 0 | 0.000000 | Tolerated | Probably damaging | Disease causing | Zebrafish |
| c.T517G | ||||||||
| p.C173G |
GRCH37: RCAN1-001, transcript ENST00000313806.4; RCAN2-002, transcript ENST00000371374.1; RCAN3-001, transcript ENST00000374395.4. MAF, minor allele frequency; MCD, minimal change disease; SSNS, steroid-sensitive NS; FR/SD, frequent relapsing/steroid-dependent; SIFT, sorting intolerant from tolerant.