Table 2.
Summary of the SNPs/variants detected in the LATS1 gene.
| Consensus position | The variant/SNP genomic position | Position of the SNP/variants | SNP/variant type | Novelty | Corresponding amino acid change | Tissue samples with the SNP/variant |
|---|---|---|---|---|---|---|
| 32 | 150039361 | 5′UTR (exon 1) | G > C | Previously identified | − | CC1, CC2, CC3, and NC1 |
| 100 | 150039293 | 5′UTR (exon 1) | A > G | Previously identified | − | NC1 |
| 245 | 150039148 | 5′UTR (exon 1) | C > T | Previously identified | − | UN1*, UN2, and CC1, CC2***, CC3, NC1** |
| 342 | 150039051 | 5′UTR (exon 1) | T > A | Novel | − | CC2 |
| 439 | 150038954 | 5′UTR (exon 1) | T > A | Novel | − | CC1, CC2, CC3 |
| 450 | 150038943 | 5′UTR (exon 1) | T > A | Novel | − | CC2 |
| 515 | 150038878 | 5′UTR (exon 1) | T > A | Novel | − | UN1, UN2, UN3 |
| 15908 | 150023485 | Intron 1 | C > A | Novel | − | UN2 |
| 15943 | 150023450 | Intron 1 | T > A | Novel | − | UN2, UN3 |
| 16045 | 150023348 | 5′UTR (exon 2) | G > C | Previously identified | − | UC1****, UC9, UC11, UC13, UC15, UC19, UC20, UC23, and NC1 |
| 16283 | 150023110 | Exon 2, coding region | G > A | Novel | Glu51Glu | NC1 |
| 22891 | 150016502 | Intron 2 | T > C | Previously identified | − | NC1 |
| 22899 | 150016494 | Intron 2 | G > C | Novel | − | CC2, CC3, and NC1 |
| 34614 | 150004779 | Exon 4, coding region | T > C | Previously identified | Ser482Ser | UC1, UC4, UC5, UC9, UC11, UC15, UC16, UC21, UC23, and UN1, UN2 |
| 35366 | 150004027 | Intron 4 | T > G | Previously identified | − | UC1, UC4, UC8, UC12, UC13, UC14, UC15, UC20, UC21, UC23, and UN1 |
| 38335 | 150001058 | Exon 5, coding region | T > A | Novel | Leu849His (Serine/Threonine catalytic domain) | UN1 |
| 41346 | 149998047 | Intron 6 | G > A | Novel | − | CC1, CC2, CC3 |
| 41625 | 149997768 | Exon 6, coding region | G > A | Novel | Arg900His (Serine/Threonine catalytic domain) | UC1, UC4, UC5, UC8, UC9, UC12, UC16, UC17, UC18, UC23, UC24 |
| 41736 | 149997657 | Intron 6 | A > G | Previously identified | − | UC1, UC4, UC5, UC7, UC8, UC9, UC10, UC11, UC12, UC13, UC15, UC16, UC17, UC20, UC21, UC23, UC24, and UN2, UN3 |
| 42029 | 149997364 | Intron 6 | T > A | Novel | − | UC5, UC8, UC10, UC12, UC13, UC15, UC21, UC23, UC24 |
| 56152 | 149983241 | Exon 8, coding region | C > T | Novel | Ala1006Val (Serine/Threonine catalytic domain) | UN2, UN3 |
| 56164 | 149983229 | Exon 8, coding region | T > C | Novel | Phe1010Ser (Serine/Threonine catalytic domain) | UN2, UN3 |
| 56177 | 149983216 | Exon 8, coding region | C > T | Previously identified | Asp1014Asp | UC1, UC8, UC9, UC11, UC15, UC21, UC23, and UN1, UN3, NC1 |
| 56976 | 149982417 | Exon 8, 3′UTR | T > C | Previously identified | − | NC1 |
| 57142 | 149982251 | Exon 8, 3′UTR | A > C | Previously identified | − | CC1, CC2, CC3, and NC1 |
| 57149 | 149982244 | Exon 8, 3′UTR | G > C | Novel | − | CC1, CC2, CC3, and NC1 |
| 57154 | 149982239 | Exon 8, 3′UTR | A > C | Novel | − | NC1 |
| 57155 | 149982238 | Exon 8, 3′UTR | T > A | Novel | − | CC1, CC2, CC3, and NC1 |
| 57160 | 149982233 | Exon 8, 3′UTR | T > A | Novel | − | NC1 |
*
UN, peritumoral urinary bladder tissue;
**
NC, peritumoral colon tissue;
***
CC, colon cancer tissue;
****
UC, urinary bladder cancer tissue.