Table 1 Primer sequences and in silico analysis of the identified variants
A) Primer sequences using for GJB2, PDE6C and PDZD7 genes in Sanger sequencing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Exon number | Forward primer (5´ to 3´) | Reverse primer (5´ to 3´) | ||||||||
GJB2 | 2 | CTCCCTGTTCTGTCCTAGCT | CTCATCCCTCTCATGCTGTC | ||||||||
PDE6C | 13 | CTGTGGCTCTGCTTCACTGA | GACTCATCTGCAGCGGAGAG | ||||||||
PDZD7 | 3 | CAACCTAGCCTTTGCAGGC | CACTGCTGCCTTCCTCCAC | ||||||||
B) In silico analysis of identified variants | |||||||||||
Gene | Genomic location (hg19/GRCh37) | Exon number | cDNA change | amino acid change | 1000 Genome MAF | ExAC MAF | CAAD score | Mutation Taster | PROVEAN | PolyPhen | ACMG Classification |
PDZD7 | Chr10: 102,783,801 | 3 | c.T251C | p. Ile84Thr | NA | NA | 25.5 | Disease causing | Damaging | Possibly damaging | PM2, PP2, PP3, PP4, PP5 Likely pathogenic |
PDE6C | Chr10: 95,400,221 | 13 | c.G1644A | p.Trp548Ter | NA | NA | 44 | Disease causing | - | - | PVS1, PM2, PP3 Pathogenic |