Table 3 of Khorram, Mol Vis 2015; 21:1017-1023.

Table 3. Non-synonymous mutations detected in nanophthalmos patient IV-3 of Pedigree 991-F.

Gene Mutation Co-inheritance with disease in pedigree SIFT Polyphen Blosum62
ZNF286A Pro87Ser No 0.01 (damaging) 0.001 (benign) −1
ZNF287 Cys48Arg No 0.07 (tolerated) 0.993 (probably damaging) −3
SLC47A1 Ile414Thr Yes 0 (damaging) 0.45 (benign) −1
TMEM98 His196Pro Yes 0 (damaging) 0.998 (probably damaging) −2

Exome sequencing identified four non-synonymous mutations in the chromosome 17 critical region. Mutations were evaluated for pathogenicity based on co-inheritance with nanophthalmos in pedigree 991-F and with three mutation analysis software packages.

Khorram, Mol Vis 2015; 21:1017-1023. http://www.molvis.org/molvis/v21/1017

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