Table 1.
Summary of results for substitution mutations
| Numbers of 1-, 2-, 3-, 4-, 5-base substitutions: 6013, 169, 12, 2, 2 | ||||
| 1-base substitutions: | ||||
| Types | Observed | At pos1 | At pos2 | At pos3 |
| Synonymous | 489 | 20 | 0 | 469 |
| Missense | 4555 | 1951 | 2262 | 342 |
| Nonsense | 964 | 672 | 132 | 160 |
| No-stop | 5 | 0 | 3 | 2 |
| Total | 6013 | 2643 | 2397 | 973 |
| Most | c→t (1267) | c→t (713) | g→a (457) | g→a (189) |
| frequent | g→a (1239) | g→a (593) | c→t (375) | c→t (179) |
| base | g→t (697) | g→t (399) | a→g (320) | |
| changes | g→t (204) | |||
| Numbers of WT bases undergoing substitution: g(2288), c(1906), a(979), t(835) | ||||
| Numbers of mutant bases after substitution : g(1041), c(897), a(1820), t(2250) | ||||
| Amino acids undergoing the most substitutions: | ||||
| Synonymous G(65), L(60) | ||||
| Nonsense R(208), Q(206), E(191) | ||||
| Missense G(654) undergoes most mutations; C(294), K(262), N(211) generated in | ||||
| significant numbers; interesting mutations: P(239)→S(91),L(86); | ||||
| A(296)→T(108),V(94); Y(136)→C(69); E(286)→K(153) | ||||
| Most frequently occurring single-base substitutions: | ||||
| cga_R→tga_TER, 194; cag_Q→tag_TER, 158; gag_E→tag_TER, 102; gaa_E→taa_TER, 89; gag_E→aag_K, 87; ggt_G→gat_D, 75; gaa_E→aaa_K, 66; ggc_G→gac_D, 63; ggc_G→agc_S, 60; cgg_R→tgg_W, 59; tct_S→ttt_F, 58; tgg_W→tga_TER, 57; gtg_V→atg_M, 52 | ||||
| 2-base substitutions: | ||||
| WT bases substituted most frequently : gg (39), cc (31), tg (22), gc (16) | ||||
| Mutant bases observed most frequently: tt (51), aa (29), at (21), ct (13) | ||||
| Most frequently observed substitutions : cc→tt (28), gg→aa (13), gg→tt (10) | ||||
| Amino acid mutations resulting from 2- and 3-base substitutions: | ||||
| G → F6, V6, D5, L3, Y3, N3, E3, S2, P2(3-base), I2, K1; L → P6, R4, S2, K1, W1; P → L6, H2, F1; V → E5, D4, K2, R2, G1, C1, A1; Q → R5, L2; W → Ter5, K2(3-base), A1; R → P4(3-base), F1, L1, V1; D → F3, I2; S → Ter3, L2, N2, Q1, F1; A → F2, L2(3-base), V2, I1, N1, G1; K → L2, S1(3-base), P1(3-base); F → K1(3-base); I → K1, D1, C1; M → P1, T1, N1; T → I1, E1; Y → V1; E → M1, V1 | ||||
| To approximately how many mutant codons does a WT codon mutate, in cancer? | ||||
| 61 WT → six or more mutant | ||||
| 44 WT → 8–11 mutant | ||||
| 13 WT → 6–7 mutant | ||||
| 4 WT → 15–19 mutant (ctg_L → 15; ggc_G → 15; gtg_V → 16; ggt_G → 19) | ||||
| 1 WT TER codon → three non-TER mutant (no-stop mutations) | ||||