Table 1.
Mutations in GAPVD1 and ANKFY1, in four individuals from three families with SRNS
| Family_Individual | Nucleotide Change | Amino Acid Change | Zygosity | Exon | PPH2 | SIFT | MT | Amino Acid Conserved to Species | ExAC | gnomAD | Sex | Ethnic Origin | Parental Consanguinity | Response to Steroids | Age of Onset (Proteinuria) | Renal Function | Renal Biopsy |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GAPVD1 | |||||||||||||||||
| A4619 | c.1240 C>G | p.Leu414Val | Hom | 5 | 0, 99 | Tol | DC | C.i. | 0/27/120,882 | 0/71/272,940 | F | Mexican | yes | not done | 2 moa | normal | Mesangial hypercellularity |
| B1391 | c.2810 G>A | p.Arg937Gln | Hom | 16 | 0, 99 | Tol | DC | C.i. | 0/13/121,408 | 0/25/277,226 | F | Arabic | yes | SRNS | 18 mo | normalb | Mesangial hypercellularity |
| ANKFY1 | |||||||||||||||||
| B1027_21 | c.284 G>T | p.Arg95Leu | Hom | 2 | 1 | Del | DC | D.m. | 0 | 0 | M | Indian | not known | SRNS | 11 yr | normal | FSGS (11 yr) |
| B1027_22 | c.284 G>T | p.Arg95Leu | Hom | 2 | 1 | Del | DC | D.m. | 0 | 0 | F | Indian | not known | not done | 8 yr | normal | ND |
PPH2, PolyPhen-2 prediction score (http://genetics.bwh.harvard.edu/pph2/); SIFT, Sorting Tolerant From Intolerant prediction score (http://sift.jcvi.org/); MT, Mutation Taster (http://www.mutationtaster.org/); ExAC, Exome Aggregation Consortium database (http://exac.broadinstitute.org); gnomAD, Genome Aggregation Database (http://gnomad.broadinstitute.org); Hom, homozygous; Tol, tolerated; DC, disease causing; C.i., Ciona intestinalis; F, female; Del, deleteriousness; D.m., D. melanogaster; M, male; ND, no data.
a
Proteinuria spontaneously resolved age 18 mo.
b
Kidneys enlarged on renal ultrasound.