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Description of the mutations of TP53 (NM_000546) Mutants
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Reference:
95 Driver mutations in TP53 are ubiquitous in high grade serous carcinoma of the ovary
J. Pathol. 2010; 221: 49-56
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Exon/Intron | Affected Codon# | Affected NT# | Description | Effect | Affected Protein Domain |
| RC400001 | N258-D13 | 4-exon | 86 | c.258 | del13 | Frame Shift | proline-rich |
| RC400002 | N292-D1 | 4-exon | 98 | c.292 | del4 | Frame Shift | N/A |
| RC400003 | N542-D24 | 5-exon | 181 | c.542 | del24 | Frame Shift | DNA binding |
| RC400004 | N683-D4 | 7-exon | 228 | c.683 | del4 | Frame Shift | DNA binding |
| RC400005 | N715-D7 | 7-exon | 239 | c.715 | del7 | Frame Shift | DNA binding |
| RC400006 | N764-D25I1 | 7-exon | 255 | c.764 | del25ins1 | Frame Shift | DNA binding |
| RC400007 | N783-D15 | 7-exon/Int | 261 | c.783-12 | del15 | Frame Shift | DNA binding |
| RC400008 | N868-D1 | 8-exon | 290 | c.868 | del4 | Frame Shift | DNA binding |
| RC400009 | N1024-D10 | 10-exon | 342 | c.1024 | del10 | Frame Shift | oligomerisation |
| RC400010 | N322-D6 | 4-exon | 108 | c.322 | del6 | other | DNA binding |
| RC400011 | N478-I6 | 5-exon | 160 | c.478 | ins6 | other | DNA binding |
| RC400012 | N206-D1 | 4-exon | 69 | c.206 | del1 | Frame Shift | proline-rich |
| RC400013 | N268_D2 | 4-exon | 90 | c.268 | del2 | Frame Shift | proline-rich |
| RC400014 | N286-D1 | 4-exon | 96 | c.286 | del1 | Frame Shift | proline-rich |
| RC400015 | N342-I2 | 4-exon | 114 | c.342 | ins1 | Frame Shift | DNA binding |
| RC400016 | N365-D2 | 4-exon | 122 | c.365 | del2 | Frame Shift | DNA binding |
| RC400017 | N393-D1 | 5-exon | 131 | c.393 | del1 | Frame Shift | DNA binding |
| RC400018 | N439-D1 | 5-exon | 147 | c.439 | del1 | Frame Shift | DNA binding |
| RC400019 | N443-D2 | 5-exon | 148 | c.443 | del2 | Frame Shift | DNA binding |
| RC400020 | N590-D1 | 6-exon | 197 | c.590 | del1 | Frame Shift | DNA binding |
| RC400021 | N610-D1 | 6-exon | 204 | c.610 | del1 | Frame Shift | DNA binding |
| RC400022 | N634-D1 | 6-exon | 212 | c.636 | del1 | Frame Shift | DNA binding |
| RC400023 | N747-D1 | 7-exon | 249 | c.747 | del1 | Frame Shift | DNA binding |
| RC400024 | N887-D1 | 8-exon | 296 | c.887 | del1 | Frame Shift | N/A |
| RC400025 | N1039-D1 | 10-exon | 347 | c.1039 | del1 | Frame Shift | oligomerisation |
| RC400026 | N887-D12I1 | 8-exon | 296 | c.887 | del2ins1 | Frame Shift | N/A |
| RC400027 | Y107D | 4-exon | 107 | c.319 | T to G | missense | DNA binding |
| RC400028 | C124X | 4-exon | 124 | c.371 | GC to AA | nonsense | DNA binding |
| RC400029 | S127P | 5-exon | 127 | c.379 | T to C | missense | DNA binding |
| RC400030 | L130H | 5-exon | 130 | c.389 | T to A | missense | DNA binding |
| RC400031 | C141Y | 5-exon | 141 | c.422 | G to A | missense | DNA binding |
| RC400032 | P151S | 5-exon | 151 | c.451 | C to T | missense | DNA binding |
| RC400033 | P151H | 5-exon | 151 | c.452 | C to A | missense | DNA binding |
| RC400034 | V157F | 5-exon | 157 | c.469 | G to T | missense | DNA binding |
| RC400035 | Y163H | 5-exon | 163 | c.487 | T to C | missense | DNA binding |
| RC400036 | Y163D | 5-exon | 163 | c.487 | T to G | missense | DNA binding |
| RC400037 | Y163C | 5-exon | 163 | c.488 | A to G | missense | DNA binding |
| RC400038 | H168P | 5-exon | 168 | c.503 | A to C | missense | DNA binding |
| RC400039 | V173M | 5-exon | 173 | c.517 | G to A | missense | DNA binding |
| RC400040 | R175H | 5-exon | 175 | c.524 | G to A | missense | DNA binding |
| RC400041 | H178P | 5-exon | 178 | c.533 | A to C | missense | DNA binding |
| RC400042 | H179R | 5-exon | 179 | c.536 | A to G | missense | DNA binding |
| RC400043 | H179Q | 5-exon | 179 | c.537 | T to A | missense | DNA binding |
| RC400044 | H193R | 6-exon | 193 | c.578 | A to G | missense | DNA binding |
| RC400045 | I195N | 6-exon | 195 | c.584 | T to A | missense | DNA binding |
| RC400046 | I195T | 6-exon | 195 | c.584 | T to C | missense | DNA binding |
| RC400047 | Y205C | 6-exon | 205 | c.614 | A to G | missense | DNA binding |
| RC400048 | S215I | 6-exon | 215 | c.644 | G to T | missense | DNA binding |
| RC400049 | S215R | 6-exon | 215 | c.645 | T to G | missense | DNA binding |
| RC400050 | V218G | 6-exon | 218 | c.653 | T to G | missense | DNA binding |
| RC400051 | Y220H | 6-exon | 220 | c.658 | T to C | missense | DNA binding |
| RC400052 | Y220C | 6-exon | 220 | c.659 | A to G | missense | DNA binding |
| RC400053 | Y234C | 7-exon | 234 | c.701 | A to G | missense | DNA binding |
| RC400054 | C238G | 7-exon | 238 | c.712 | T to G | missense | DNA binding |
| RC400055 | C238Y | 7-exon | 238 | c.713 | G to A | missense | DNA binding |
| RC400056 | S241Y | 7-exon | 241 | c.722 | C to A | missense | DNA binding |
| RC400057 | S241F | 7-exon | 241 | c.722 | C to T | missense | DNA binding |
| RC400058 | G245S | 7-exon | 245 | c.733 | G to A | missense | DNA binding |
| RC400059 | G245D | 7-exon | 245 | c.734 | G to A | missense | DNA binding |
| RC400060 | G245V | 7-exon | 245 | c.734 | G to T | missense | DNA binding |
| RC400061 | M246V | 7-exon | 246 | c.736 | A to G | missense | DNA binding |
| RC400062 | R248G | 7-exon | 248 | c.742 | C to G | missense | DNA binding |
| RC400063 | R248W | 7-exon | 248 | c.742 | C to T | missense | DNA binding |
| RC400064 | R248Q | 7-exon | 248 | c.743 | G to A | missense | DNA binding |
| RC400065 | R249G | 7-exon | 249 | c.745 | A to G | missense | DNA binding |
| RC400066 | R249M | 7-exon | 249 | c.746 | G to T | missense | DNA binding |
| RC400067 | L257Q | 7-exon | 257 | c.770 | T to A | missense | DNA binding |
| RC400068 | L257P | 7-exon | 257 | c.770 | T to C | missense | DNA binding |
| RC400069 | E258K | 7-exon | 258 | c.772 | G to A | missense | DNA binding |
| RC400070 | D259Y | 7-exon | 259 | c.775 | G to T | missense | DNA binding |
| RC400071 | V272M | 8-exon | 272 | c.814 | G to A | missense | DNA binding |
| RC400072 | R273C | 8-exon | 273 | c.817 | C to T | missense | DNA binding |
| RC400073 | R273H | 8-exon | 273 | c.818 | G to A | missense | DNA binding |
| RC400074 | R273L | 8-exon | 273 | c.818 | G to T | missense | DNA binding |
| RC400075 | V274F | 8-exon | 274 | c.820 | G to T | missense | DNA binding |
| RC400076 | C275Y | 8-exon | 275 | c.824 | G to A | missense | DNA binding |
| RC400077 | P278S | 8-exon | 278 | c.832 | C to T | missense | DNA binding |
| RC400078 | R280G | 8-exon | 280 | c.838 | A to G | missense | DNA binding |
| RC400079 | D281G | 8-exon | 281 | c.842 | A to G | missense | DNA binding |
| RC400080 | R282W | 8-exon | 282 | c.844 | C to T | missense | DNA binding |
| RC400081 | E286K | 8-exon | 286 | c.856 | G to A | missense | DNA binding |
| RC400082 | C141X | 5-exon | 141 | c.423 | C to A | nonsense | DNA binding |
| RC400083 | Q165X | 5-exon | 165 | c.493 | C to T | nonsense | DNA binding |
| RC400084 | Q167X | 5-exon | 167 | c.499 | C to T | nonsense | DNA binding |
| RC400085 | Q192X | 6-exon | 192 | c.574 | C to T | nonsense | DNA binding |
| RC400086 | R213X | 6-exon | 213 | c.637 | C to T | nonsense | DNA binding |
| RC400087 | K291X | 8-exon | 291 | c.871 | A to T | nonsense | DNA binding |
| RC400088 | K292X | 8-exon | 292 | c.874 | A to T | nonsense | DNA binding |
| RC400089 | R306X | 8-exon | 306 | c.916 | C to T | nonsense | N/A |
| RC400090 | R342X | 10-exon | 342 | c.1024 | C to T | nonsense | oligomerisation |
| RC400091 | E343X | 10-exon | 343 | c.1027 | G to T | nonsense | oligomerisation |
| RC400092 | E349X | 10-exon | 349 | c.1045 | G to T | nonsense | oligomerisation |
| RC400093 | N681-I1 | 7-exon | 227 | c.681 | ins1 | Frame Shift | DNA binding |
| RC400094 | N731-D1 | 7-exon | 244 | c.731 | del1 | Frame Shift | DNA binding |
| RC400095 | N536-D13I1 | 5-exon | 180 | c.538 | del3ins1 | Frame Shift | DNA binding |


