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. 2020 Jul 6;58(7):453–464. doi: 10.1136/jmedgenet-2019-106805

Table 1.

Mutations in DLG5 in five individuals from four families with congenital anomalies and/or SRNS

Family (individual) Phenotype Nucleotide change Amino acid change Exon (zygosity) PPH2 score CADD score SIFT MT Species of amino acid conservation gnomAD Sex Ethnic origin
III 2–1 SRNS c.497G>A p.Arg166His Exon 3 (Cmp) 0.956 23.6 Del DC Pt, Mm, Xt, Dr 0/5/245918 Female European
I 2–1 CAKUT, CHD, LA c.745C>T p.Arg249Trp Exon 5 (DN) 1 27 Del DC Pt, Mm, Xt, Dr 0/3/242960 Male European
IV 2–1 CFD, HC, LA c.2461C>T p.Arg821Ter Exon 15 (Hom) NA 40 NA NA NA NP Male European
III 2–1 SRNS c.3214C>T p.Arg1072Cys Exon 15 (Cmp) 0.818 29.9 Del DC Pt, Mm, Dr 0/154/277032 Female European
II 1–1 CAKUT c.4526AG>TT p.Gln1509Leu Exon 24 (Het) 0.179 23.6 Del DC Pt, Mm, Dr NP Male European
II 2–1 CAKUT c.4526AG>TT p.Gln1509Leu Exon 24 (Het) 0.179 23.6 Del DC Pt, Mm, Dr NP Male European

CADD, combined annotation-dependent depletion; CAKUT, congenital anomalies of the kidney and urinary tract; CFD, craniofacial defects; DC, disease causing; DLG5, discs large 5; Dr, Danio rerio; gnomAD, Genome Aggregation Database; HC, hydrocephalus; Het, heterozygous; Hom, homozygous; LA, limb abnormalities; Mm, mus musculus; MT, Mutation Taster (prediction software); NA, not applicable; NP, not present; PPH2, PolyPhen-2 (prediction software); Pt, pan troglodytes; SIFT, Sorting Intolerant From Tolerant (prediction software); SRNS, steroid-resistant nephrotic syndrome; Xt, Xenopus tropicalis.