Table 4.
Mutational analysis of all study subjects
| S. No. | Mutations | Cytogenetic location | Codon no. | Variant | Variant type | Site |
|---|---|---|---|---|---|---|
| 1 | TP53 | 17p13.1 | Codon 72 |
c.215C>G (Pro72Arg) |
Mis-sense Transversion |
Buccal mucosa |
| 2 | TP53 | 17p13.1 | Codon 72 |
c.215C>G (Pro72Arg) |
Mis-sense Transversion |
Buccal mucosa |
| 3 | TP53 | 17p13.1 | Codon 72 |
c.215C>G (Pro72Arg) |
Mis-sense Transversion |
Tongue |
| 4 | TP53 | 17p13.1 | Codon 72 |
c.215C>G (Pro72Arg) |
Mis-sense Transversion |
Tongue |
| 5 | TP53 | 17p13.1 | Codon 72 |
c.215C>G (Pro72Arg) |
Mis-sense Transversion |
Buccal mucosa |
| 6 | TP53 | 17p13.1 | Codon 152 |
c.455C>T (Pro152Leu) |
Mis-sense Transition |
Lower alveolus |
| 7 | TP53 | 17p13.1 | Codon 158 |
c.472C>T (Arg158Cys) |
Mis-sense Transition |
Tongue |
| 8 | TP53 | 17p13.1 | Codon 165 |
c.493C>T (Gln165Ter) |
Non-sense | Tongue |
| 9 | TP53 | 17p13.1 | Codon 173 |
c.517G>A (Val173Met) |
Mis-sense Transition |
Tongue |
| 10 | TP53 | 17p13.1 | Codon 175 |
c.524G>A (Arg175His) |
Mis-sense Transition |
Buccal mucosa |
| 11 | TP53 | 17p13.1 | Codon 204 |
c.610G>T (Glu204Ter) |
Non-sense | Buccal mucosa |
| 12 | TP53 | 17p13.1 | Codon 213 |
c.638G>A (Arg213Gln) |
Mis-sense Transition |
Buccal mucosa |
| 13 | TP53 | 17p13.1 | Codon 241 |
c.722C>T (Ser241Phe) |
Mis-sense Transition |
Lower alveolus |
| 14 | TP53 | 17p13.1 | Codon 244 |
c.731G>C (Gly244Ala) |
Mis-sense Transversion |
Buccal mucosa |
| 15 | TP53 | 17p13.1 | Codon 248 |
c.742C>T (Arg248Trp) |
Mis-sense Transition |
Buccal mucosa |
| 16 | TP53 | 17p13.1 | Codon 248 |
c.742C>T (Arg248Trp) |
Mis-sense Transition |
Tongue |
| 17 | TP53 | 17p13.1 | Codon 248 |
c.743G>A (Arg248Gln) |
Mis-sense Transition |
Buccal mucosa |
| 18 | TP53 | 17p13.1 | Codon 267 |
c.799C>T (Arg267Tryp) |
Mis-sense Transition |
Tongue |
| 19 | TP53 | 17p13.1 | Codon 274 |
c.820G>T (Val274Phe) |
Mis-sense Tranversion |
Lower alveolus |
| 20 | TP53 | 17p13.1 | Codon 274 |
c.821T>G (Val274Gly) |
Mis-sense Transversion |
Buccal mucosa |
| 21 | TP53 | 17p13.1 | Codon 301 | c.902delC (pro301Glnfs) | Deletion (frameshift) | Tongue |
| 22 | TP53 | 17p13.1 | Codon 306 |
c.916C>T (Arg306Ter) |
Non-sense | Buccal mucosa |
| 23 | TP53 | 17p13.1 | Codon 306 |
c.916C>T (Arg306Ter) |
Non-sense | Upper alveolus |
| 24 | TP53 | 17p13.1 | - |
c.376-1G>A unknown |
Intron variant (splice site) |
Buccal mucosa |
| 25 | CDKN2A | 9p21.3 | Codon78 |
c.233-234delTC (Leu78fs) |
Deletion (frameshift) |
Buccal mucosa |
| 26 | CDKN2A | 9p21.3 | Codon 80 |
c.238 C>T (Arg80Ter) |
Non-sense | Buccal mucosa |
| 27 | CDKN2A | 9p21.3 | Codon 80 |
c.238 C>T (Arg80Ter) |
Non-sense | Buccal mucosa |
| 28 | CDKN2A | 9p21.3 | Codon 80 |
c.238C>T (Arg80Ter) |
Non-sense | Buccal mucosa |
| 29 | CDKN2A | 9p21.3 | Codon 80 |
c.238C>T (Arg80Ter) |
Non-sense | Tongue |
| 30 | CDKN2A | 9p21.3 | Codon 80 |
c.238C>T (Arg80Ter) |
Non-sense | Lower alveolus |
| 31 | CDKN2A | 9p21.3 | Codon 80 |
c.238C>T (Arg80Ter) |
Non-sense | Tongue |
| 32 | CDKN2A | 9p21.3 | Codon 110 |
c.330G>A (Trp110Ter) |
Non-sense | Buccal mucosa |
| 33 | CDKN2A | 9p21.3 | Codon 110 |
c.330G>A (Trp110Ter) |
Non-sense | Buccal mucosa |
| 34 | CDKN2A | 9p21.3 | Codon 110 |
c.330G>A (Trp110Ter) |
Non-sense | Upper alveolus |
| 35 | HRAS | 11p15.5 | Codon 12 |
c.34G>A (Gly12Ser) |
Mis-sense Transition |
Buccal mucosa |
| 36 | HRAS | 11p15.5 | Codon 12 |
c.34G>A (Gly12Ser) |
Mis-sense Transition |
Buccal mucosa |
| 37 | HRAS | 11p15.5 | Codon 12 |
c.34G>A (Gly12Ser) |
Mis-sense Transition |
Buccal mucosa |
| 38 | HRAS | 11p15.5 | Codon 12 |
c.35G>A (Gly12Asp) |
Mis-sense Transition |
Lower lip |
| 39 | HRAS | 11p15.5 | Codon 13 |
c.37G>C (Gly13Arg) |
Mis-sense Transversion |
Lower lip |
| 40 | HRAS | 11p15.5 | Codon 13 |
c.38G>T (Gly13Val) |
Mis-sense Transversion |
Buccal mucosa |
| 41 | HRAS | 11p15.5 | Codon 61 |
c.181C>A (Gln61Lys) |
Mis-sense Transversion |
Tongue |
| 42 | HRAS | 11p15.5 | Codon 61 |
c.182A>T (Gln61Leu) |
Mis-sense Transversion |
Tongue |
| 43 | PIK3CA | 3q26.32 | Codon 542 |
c.1625A>C (Glu542Ala) |
Mis-sense Transversion |
Lower alveolus |
| 44 | PIK3CA | 3q26.3 | Codon 542 |
c.1624G>A (Glu542Lys) |
Mis-sense Transition |
Lower alveolus |
| 45 | PIK3CA | 3q26.3 | Codon 1047 |
c.3140 A>G (His1047Arg) |
Mis-sense Transition |
Buccal mucosa |
| 46 | SMARCB1 | 22q11.23 | - |
c.1146-41G>A unknown |
Intron variant | Buccal mucosa |
| 47 | SMARCB1 | 22q11.23 | - | c.1146-41G>A | Intron variant | Buccal mucosa |
| 48 | KIT | 4q12 | Codon 541 |
c.1621A>C (Met541Leu) |
Mis-sense Transversion |
Buccal mucosa |
| 49 | BRAF | 7q34 | Codon 466 |
c.1397G>C (Gly466Ala) |
Mis-sense Transversion |
Lower alveolus |
| 50 | STK11 | 19p13.3 | Codon 357 |
c.1071G>T (Glu357Asp) |
Mis-sense Transversion |
Lower alveolus |
| 51 | ABL1 | 9q34.12 | Codon 274 |
c.764A>T (Glu274Val) |
Mis-sense Transversion |
Tongue |
| Codon 415 |
c.1187A>G (His415Pro) |
Mis-sense Transition |
||||
| 52 | EGFR | 7p11.2 | Codon 746 | c.2234delAGG (Glu746del) |
Deletion (in frame Deletion) |
Tongue |
| 53 | RB1 | 13q14.2 | Codon 680 |
c.2039T>C (Ile680Thr) |
Mis-sense Transition |
Tongue |