Table 1.
Novel mutations in TBC1D8B
| Family | Nucleotide Change | Amino Acid Change | Zygosity | Exon | PPH2 | SIFT | MT | Amino Acid Conserved to Species | ExAC (het/hemi) | gnomAD (hom/het /hemi) | Sex | Ethnic Origin | Parental Consan- guinity | Response to Steroids | Age of Onset (Proteinuria), yr | ESKD | Number of Affecteds | Renal Biopsy | Verdict |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FGLR1 | c.115 G>A | p.Gly39Arg | Hemi | 1 | 1.0 | Del | DC | D.r. | 0/0/0 | M | Non-Hispanic White | No | No steroid treatment | 59 | Yes (age 59) | 1 | ND | Pass | |
| S42 | c.572 T>C | p.Leu191Ser | Hemi | 4 | 0.95 | Del | DC | X.t. | 0/0/0 | M | Non-Hispanic White | No | Yes | 3 | Not until age 8 | 1 | ND | Pass | |
| CPMC26 | c.2293 C>T | p.Arg765Cys | Hom | 14 | 1.0 | Del | DC | S.c. | 0/5/3 | F | Non-Hispanic White | No | ND | 55 | Not until age 55 | 1 | FSGS | Pass | |
| FGKS1 | c.2448G>A | p.Trp816* | Hemi | 16 | — | — | — | — | 0/7/1 | M | Hispanic | No | ND | 9 | Not until age 12 | 2 | FGGS | Pass | |
| FGKA1 | c.1494 G>A | p.Met498Ile | Het | 9 | 0.0 | T | DC | M.m. | 0/18/3 | F | ND | ND | ND | 45 | ND | 3 | FSGS | Reject | |
| FGAO1 | c.55 A>G | p.Met19Val | Hemi | 1 | 0.0 | T | PM | M.m. | 0/0/0 | M | ND | ND | ND | 24 | ND | 2 | FSGS | Less likely | |
| CTRL_G47551 | c.922 T>C | Trp308Arg | Het | 6 | 0.12 | T | DC | D.r. | 1/53/87 | N/A | ND | ND | — | — | — | — | control | Reject |
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/); hom, homozygous; het, heterozygous; hemi, hemizygous; gnomAD, The Genome Aggregation Database (https://gnomad.broadinstitute.org/); del, deleterious; DC, disease causing; D.r., Danio rerio; M, male; X.t., Xenopus tropicalis; S.c., Saccharomyces cerevisiae; F, female; ND, no data; FGGS, focal global glomerulosclerosis; M.m., mus musculus; PM, polymorphism.