From: Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance
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 |