Table 2.
Summary of individual mutations and associated protein coding change in non-synonymous mut homolog genes, USH2A, and EIF1AX among all ATC tissue samples assayed
| Case | Gene | Location | Mutation (AA) | Position (AA/total AA) | P-value | Nucleotide position | Nucleotide change | PolyPhen2 score |
|---|---|---|---|---|---|---|---|---|
| T2 | MLH1 | Chr3 | I19M | 19/756 | 1.16E−31 | 37 010 099 | C>G | 1 |
| T3 | MLH1 | Chr3 | I68M | 68/756 | 2.63E−21 | 37 013 201 | C>G | 1 |
| T4 | MLH1 | Chr3 | Q60X | 60/756 | 8.23E−18 | 37 013 175 | C>T | Truncating |
| T11 | MLH3 | Chr14 | L264V | 264/1429 | 5.10E−08 | 74 585 322 | G>C | 0.968 |
| T12 | MSH5 | Chr6 | A199V | 199/822 | 4.43E−06 | 31 819 953 | C>T | 0.999 |
| T10 | MSH6 | Chr2 | D736H | 736/1360 | 9.08E−06 | 47 880 832 | G>C | 1 |
| T5 | USH2A | Chr1 | I2189V | 2189/5202 | 2.18E−22 | 214 238 944 | T>C | 0 |
| T11 | USH2A | Chr1 | D798V | 798/5202 | 2.79E−05 | 214 486 966 | T>A | 0.921 |
| T21 | USH2A | Chr1 | E4571K | 4571/5202 | 6.33E−13 | 213 914 165 | C>T | 0.549 |
| T22 | USH2A | Chr1 | L1727F | 1727/5202 | 2.08E−34 | 214 323 540 | G>A | 0.961 |
| T9 | EIF1AX | ChrX | Ex-in boundary | 1 bp upstream of exon 6 | 1.14E−88 | 20 058 647 | C>G | Splice site |
| T13 | EIF1AX | ChrX | G9R | 9/144 | 1.40E−15 | 20 066 653 | C>G | 0.996 |
| T21 | EIF1AX | ChrX | P2R | 2/144 | 2.57E−12 | 20 069 675 | G>C | 0.028 |
AA, amino acid.