Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases

<div>Diseases for each type of damaged PTM affected by nsSNVs in IPA. Threshold was chosen as <svg height="9.29899pt" id="M39" style="vertical-align:-0.7022505pt" version="1.1" viewbox="-0.0498162 -8.59674 45.6962 9.29899" width="45.6962pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M622 479C622 589 545 650 400 650H146L140 618C229 609 230 602 215 527L135 132C117 43 112 41 27 32L18 0H305L313 32C213 40 205 44 222 132L251 284L324 262H365C484 269 622 333 622 479ZM528 477C528 356 420 305 344 305C300 305 276 314 259 321L303 554C311 597 313 600 331 606C345 611 361 614 379 614C463 614 528 580 528 477Z" id="g50-81"></path><glyph.data ascent="3443" descent="-2856" horiz-adv-x="640" vert-adv-y="640"></glyph.data></g><g transform="matrix(.013,0,0,-0.013,11.766,0)"><path d="M530 -6V57L144 261V263L530 468V530L81 290V234L530 -6Z" id="g54-91"></path><glyph.data ascent="3443" descent="-2856" horiz-adv-x="611" vert-adv-y="611"></glyph.data></g><g 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transform="matrix(.013,0,0,-0.013,39.128,0)"><path d="M158 548H390L417 615L410 623H122L83 318C105 326 143 337 185 337C296 337 350 275 350 188C350 116 308 42 225 42C164 42 122 74 100 93C90 101 82 99 72 92C60 82 51 68 50 59C48 46 52 38 66 24C82 9 125 -12 172 -12C225 -11 292 15 346 59C408 108 437 166 437 226C437 309 371 397 242 397C214 397 170 382 133 369L158 548Z" id="g50-54"></path><glyph.data ascent="3443" descent="-2856" horiz-adv-x="487" vert-adv-y="487"></glyph.data></g></svg> for all the PTMs and data presented in the charts against <svg height="12.4894pt" id="M40" style="vertical-align:-3.3446pt" version="1.1" viewbox="-0.0498162 -9.1448 24.4877 12.4894" width="24.4877pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M556 236V289H56V236H556Z" id="g54-33"></path><glyph.data ascent="3443" descent="-2856" horiz-adv-x="611" vert-adv-y="611"></glyph.data></g><g transform="matrix(.013,0,0,-0.013,7.943,0)"><path d="M244 0V30C178 35 170 41 170 107V710C136 697 72 680 18 675V647C83 642 89 639 89 572V107C89 43 80 35 16 30V0H244Z" id="g58-106"></path><glyph.data ascent="1007" descent="-369" horiz-adv-x="260" vert-adv-y="260"></glyph.data></g><g transform="matrix(.013,0,0,-0.013,11.323,0)"><path d="M262 451C169 451 38 375 38 210C38 98 121 -12 261 -12C360 -12 481 64 481 227C481 351 386 451 262 451ZM249 414C337 414 385 320 385 204C385 70 333 25 272 25C189 25 134 117 134 241C134 355 189 414 249 414Z" id="g58-109"></path><glyph.data ascent="1007" descent="-369" horiz-adv-x="519" vert-adv-y="519"></glyph.data></g><g transform="matrix(.013,0,0,-0.013,18.07,0)"><path d="M472 439C432 432 382 428 334 425C303 442 271 451 236 451H235C158 451 54 398 54 285C54 216 97 171 140 152C124 133 93 105 53 90C52 81 55 63 64 48C77 27 102 5 137 -6C115 -22 77 -53 57 -73C40 -88 32 -107 32 -130C32 -189 96 -253 208 -253C340 -253 461 -159 461 -56C461 44 378 63 314 63C281 63 246 62 207 62C163 62 145 80 145 99C145 114 160 130 175 141C191 138 210 136 226 136C314 136 405 188 405 294C405 329 393 359 376 382L433 378C448 387 469 415 477 430L472 439ZM226 417C282 417 320 364 320 288S281 172 236 171C180 171 142 224 142 300S182 417 226 417ZM248 -9C291 -9 319 -11 346 -22S390 -57 390 -90C390 -151 339 -199 246 -199C171 -199 114 -159 114 -106C114 -79 132 -53 159 -30C178 -15 200 -9 248 -9Z" id="g58-101"></path><glyph.data ascent="1007" descent="-369" horiz-adv-x="479" vert-adv-y="479"></glyph.data></g></svg> of <svg height="8.64656pt" id="M41" style="vertical-align:-0.04981995pt" version="1.1" viewbox="-0.0498162 -8.59674 8.21594 8.64656" width="8.21594pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M622 479C622 589 545 650 400 650H146L140 618C229 609 230 602 215 527L135 132C117 43 112 41 27 32L18 0H305L313 32C213 40 205 44 222 132L251 284L324 262H365C484 269 622 333 622 479ZM528 477C528 356 420 305 344 305C300 305 276 314 259 321L303 554C311 597 313 600 331 606C345 611 361 614 379 614C463 614 528 580 528 477Z" id="g50-81"></path><glyph.data ascent="3443" descent="-2856" horiz-adv-x="640" vert-adv-y="640"></glyph.data></g></svg> values. Different PTMs are shown in different colors. Both (a) and (b) present nsSNVs on the range of ±2 amino acids around modified residues. (a) Diseases for each PTM affected by inherited-disease-related nsSNVs; (b) diseases for each PTM affected by cancer-related nsSNVs.</div>

Computational and Mathematical Methods in Medicine

fig3

Figure 3

Figure 3: Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases 