t/data/mutations.xml

   1 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+4G&gt;A" trivname="E2K">
   2     <DNA number="1" start="4" end="4" length="1" isMutation="1">
   3         <label>point</label>
   4         <label>transition</label>
   5         <proof>computed</proof>
   6         <upFlank>gaagattcagccaagctcaaggatg</upFlank>
   7         <allele_ori>g</allele_ori>
   8         <allele_mut>a</allele_mut>
   9         <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
  10         <restriction_changes>-BccI</restriction_changes>
  11     </DNA>
  12     <RNA number="1" start="4" end="4" length="1" isMutation="1">
  13         <label>missense</label>
  14         <proof>experimental</proof>
  15         <upFlank>gaagattcagccaagctcaaggatg</upFlank>
  16         <allele_ori>g</allele_ori>
  17         <allele_mut>a</allele_mut>
  18         <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
  19         <codon codon_ori="gaa" codon_mut="aaa" codon_pos="1"></codon>
  20         <restriction_changes>-BccI</restriction_changes>
  21         <region>coding</region>
  22     </RNA>
  23     <AA number="1" start="2" end="2" length="1" isMutation="1">
  24         <label>substitution</label>
  25         <label>conservative</label>
  26         <proof>computed</proof>
  27         <allele_ori>E</allele_ori>
  28         <allele_mut>K</allele_mut>
  29     </AA>
  30 </seqDiff>
  31 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+14T&gt;A" trivname="L5X">
  32     <DNA number="1" start="14" end="14" length="1" isMutation="1">
  33         <label>point</label>
  34         <label>transversion</label>
  35         <proof>computed</proof>
  36         <upFlank>ccaagctcaaggatggaagtgcagt</upFlank>
  37         <allele_ori>t</allele_ori>
  38         <allele_mut>a</allele_mut>
  39         <dnFlank>agggctgggaagggtctaccctcgg</dnFlank>
  40     </DNA>
  41     <RNA number="1" start="14" end="14" length="1" isMutation="1">
  42         <label>nonsense</label>
  43         <proof>experimental</proof>
  44         <upFlank>ccaagctcaaggatggaagtgcagt</upFlank>
  45         <allele_ori>t</allele_ori>
  46         <allele_mut>a</allele_mut>
  47         <dnFlank>agggctgggaagggtctaccctcgg</dnFlank>
  48         <codon codon_ori="tta" codon_mut="taa" codon_pos="2"></codon>
  49         <region>coding</region>
  50     </RNA>
  51     <AA number="1" start="5" end="5" length="1" isMutation="1">
  52         <label>truncation</label>
  53         <proof>computed</proof>
  54         <allele_ori>L</allele_ori>
  55         <allele_mut>*</allele_mut>
  56     </AA>
  57 </seqDiff>
  58 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+4G&gt;A" trivname="E2K">
  59     <DNA number="1" start="4" end="4" length="1" isMutation="1">
  60         <label>point</label>
  61         <label>transition</label>
  62         <proof>computed</proof>
  63         <upFlank>gaagattcagccaagctcaaggatg</upFlank>
  64         <allele_ori>g</allele_ori>
  65         <allele_mut>a</allele_mut>
  66         <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
  67         <restriction_changes>-BccI</restriction_changes>
  68     </DNA>
  69     <RNA number="1" start="4" end="4" length="1" isMutation="1">
  70         <label>missense</label>
  71         <proof>experimental</proof>
  72         <upFlank>gaagattcagccaagctcaaggatg</upFlank>
  73         <allele_ori>g</allele_ori>
  74         <allele_mut>a</allele_mut>
  75         <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
  76         <codon codon_ori="gaa" codon_mut="aaa" codon_pos="1"></codon>
  77         <restriction_changes>-BccI</restriction_changes>
  78         <region>coding</region>
  79     </RNA>
  80     <AA number="1" start="2" end="2" length="1" isMutation="1">
  81         <label>substitution</label>
  82         <label>conservative</label>
  83         <proof>computed</proof>
  84         <allele_ori>E</allele_ori>
  85         <allele_mut>K</allele_mut>
  86     </AA>
  87 </seqDiff>
  88 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+100delATCCAG" trivname="I34del-2">
  89     <DNA number="1" start="100" end="105" length="6" isMutation="1">
  90         <label>deletion</label>
  91         <proof>computed</proof>
  92         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
  93         <allele_ori>atccag</allele_ori>
  94         <allele_mut></allele_mut>
  95         <dnFlank>aacccgggccccaggcacccagagg</dnFlank>
  96         <restriction_changes>-BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV</restriction_changes>
  97     </DNA>
  98     <RNA number="1" start="100" end="105" length="6" isMutation="1">
  99         <label>inframe</label>
 100         <label>deletion</label>
 101         <proof>experimental</proof>
 102         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
 103         <allele_ori>atccag</allele_ori>
 104         <allele_mut></allele_mut>
 105         <dnFlank>aacccgggccccaggcacccagagg</dnFlank>
 106         <codon codon_ori="atc" codon_pos="1"></codon>
 107         <restriction_changes>-BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV</restriction_changes>
 108         <region>coding</region>
 109     </RNA>
 110     <AA number="1" start="34" end="35" length="2" isMutation="1">
 111         <label>deletion</label>
 112         <proof>computed</proof>
 113         <allele_ori>IQ</allele_ori>
 114         <allele_mut></allele_mut>
 115     </AA>
 116 </seqDiff>
 117 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+101delT" trivname="I34delX172">
 118     <DNA number="1" start="101" end="101" length="1" isMutation="1">
 119         <label>deletion</label>
 120         <proof>computed</proof>
 121         <upFlank>ctgttccagagcgtgcgcgaagtga</upFlank>
 122         <allele_ori>t</allele_ori>
 123         <allele_mut></allele_mut>
 124         <dnFlank>ccagaacccgggccccaggcaccca</dnFlank>
 125         <restriction_changes>-BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I</restriction_changes>
 126     </DNA>
 127     <RNA number="1" start="101" end="101" length="1" isMutation="1">
 128         <label>frameshift</label>
 129         <label>deletion</label>
 130         <proof>experimental</proof>
 131         <upFlank>ctgttccagagcgtgcgcgaagtga</upFlank>
 132         <allele_ori>t</allele_ori>
 133         <allele_mut></allele_mut>
 134         <dnFlank>ccagaacccgggccccaggcaccca</dnFlank>
 135         <codon codon_ori="atc" codon_pos="2"></codon>
 136         <restriction_changes>-BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I</restriction_changes>
 137         <region>coding</region>
 138     </RNA>
 139     <AA number="1" start="34" end="34" length="1" isMutation="1">
 140         <label>out-of-frame translation</label>
 141         <label>truncation</label>
 142         <proof>computed</proof>
 143         <allele_ori>I</allele_ori>
 144         <allele_mut>TRTRAPGTQRPRAQHLPAPVCCCCSSSSSSSSSSSSSSSSSSSSKRLAPGSSSSSRVRMVLPKPIVEAPQATWSWMRNSNLHSRSRPWSATPREVASQSLEPPWPPARGCRSSCQHLRTRMTQLPHPRCPCWAPLSPA*</allele_mut>
 145     </AA>
 146 </seqDiff>
 147 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+101insGGGCCC" trivname="I34ins+2">
 148     <DNA number="1" start="101" end="101" length="0" isMutation="1">
 149         <label>insertion</label>
 150         <proof>computed</proof>
 151         <upFlank>ctgttccagagcgtgcgcgaagtga</upFlank>
 152         <allele_ori></allele_ori>
 153         <allele_mut>gggccc</allele_mut>
 154         <dnFlank>tccagaacccgggccccaggcaccc</dnFlank>
 155         <restriction_changes>+ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI, +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV, +SduI</restriction_changes>
 156     </DNA>
 157     <RNA number="1" start="101" end="101" length="0" isMutation="1">
 158         <label>inframe</label>
 159         <label>insertion</label>
 160         <proof>experimental</proof>
 161         <upFlank>ctgttccagagcgtgcgcgaagtga</upFlank>
 162         <allele_ori></allele_ori>
 163         <allele_mut>gggccc</allele_mut>
 164         <dnFlank>tccagaacccgggccccaggcaccc</dnFlank>
 165         <codon codon_ori="atc" codon_pos="2"></codon>
 166         <restriction_changes>+ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI, +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV, +SduI</restriction_changes>
 167         <region>coding</region>
 168     </RNA>
 169     <AA number="1" start="34" end="34" length="1" isMutation="1">
 170         <label>insertion</label>
 171         <label>complex</label>
 172         <proof>computed</proof>
 173         <allele_ori>I</allele_ori>
 174         <allele_mut>RAL</allele_mut>
 175     </AA>
 176 </seqDiff>
 177 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+100insG" trivname="I34ins81X">
 178     <DNA number="1" start="100" end="100" length="0" isMutation="1">
 179         <label>insertion</label>
 180         <proof>computed</proof>
 181         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
 182         <allele_ori></allele_ori>
 183         <allele_mut>g</allele_mut>
 184         <dnFlank>atccagaacccgggccccaggcacc</dnFlank>
 185         <restriction_changes>+BamHI, +BinI, +NlaIV, +XhoII</restriction_changes>
 186     </DNA>
 187     <RNA number="1" start="100" end="100" length="0" isMutation="1">
 188         <label>frameshift</label>
 189         <label>insertion</label>
 190         <proof>experimental</proof>
 191         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
 192         <allele_ori></allele_ori>
 193         <allele_mut>g</allele_mut>
 194         <dnFlank>atccagaacccgggccccaggcacc</dnFlank>
 195         <codon codon_ori="atc" codon_pos="1"></codon>
 196         <restriction_changes>+BamHI, +BinI, +NlaIV, +XhoII</restriction_changes>
 197         <region>coding</region>
 198     </RNA>
 199     <AA number="1" start="34" end="34" length="1" isMutation="1">
 200         <label>out-of-frame translation</label>
 201         <label>truncation</label>
 202         <proof>computed</proof>
 203         <allele_ori>I</allele_ori>
 204         <allele_mut>DPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*</allele_mut>
 205     </AA>
 206 </seqDiff>
 207 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+100AT&gt;GGGCCC" trivname="I34ins82X">
 208     <DNA number="1" start="100" end="101" length="2" isMutation="1">
 209         <label>complex</label>
 210         <proof>computed</proof>
 211         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
 212         <allele_ori>at</allele_ori>
 213         <allele_mut>gggccc</allele_mut>
 214         <dnFlank>ccagaacccgggccccaggcaccca</dnFlank>
 215         <restriction_changes>+ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI, +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI</restriction_changes>
 216     </DNA>
 217     <RNA number="1" start="100" end="101" length="2" isMutation="1">
 218         <label>frameshift</label>
 219         <label>complex</label>
 220         <proof>experimental</proof>
 221         <upFlank>tctgttccagagcgtgcgcgaagtg</upFlank>
 222         <allele_ori>at</allele_ori>
 223         <allele_mut>gggccc</allele_mut>
 224         <dnFlank>ccagaacccgggccccaggcaccca</dnFlank>
 225         <codon codon_ori="atc" codon_pos="1"></codon>
 226         <restriction_changes>+ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI, +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI</restriction_changes>
 227         <region>coding</region>
 228     </RNA>
 229     <AA number="1" start="34" end="34" length="1" isMutation="1">
 230         <label>out-of-frame translation</label>
 231         <label>truncation</label>
 232         <proof>computed</proof>
 233         <allele_ori>I</allele_ori>
 234         <allele_mut>GPPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*</allele_mut>
 235     </AA>
 236 </seqDiff>
 237 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.-1G&gt;A">
 238     <DNA number="1" start="-1" end="-1" length="1" isMutation="1">
 239         <label>point</label>
 240         <label>transition</label>
 241         <proof>computed</proof>
 242         <upFlank>ggtggaagattcagccaagctcaag</upFlank>
 243         <allele_ori>g</allele_ori>
 244         <allele_mut>a</allele_mut>
 245         <dnFlank>atggaagtgcagttagggctgggaa</dnFlank>
 246         <restriction_changes>-BccI, -FokI, +Hpy178III</restriction_changes>
 247     </DNA>
 248     <RNA number="1" start="-1" end="-1" length="1" isMutation="1">
 249         <label>unknown</label>
 250         <proof>experimental</proof>
 251         <upFlank>ggtggaagattcagccaagctcaag</upFlank>
 252         <allele_ori>g</allele_ori>
 253         <allele_mut>a</allele_mut>
 254         <dnFlank>atggaagtgcagttagggctgggaa</dnFlank>
 255         <restriction_changes>-BccI, -FokI, +Hpy178III</restriction_changes>
 256         <region>5'UTR</region>
 257     </RNA>
 258 </seqDiff>
 259 <seqDiff id="M20132" moltype="rna" offset="362" sysname="c.+2766T&gt;C">
 260     <DNA number="1" start="2766" end="2766" length="1" isMutation="1">
 261         <label>point</label>
 262         <label>transition</label>
 263         <proof>computed</proof>
 264         <upFlank>tctatttccacacccagtgaagcat</upFlank>
 265         <allele_ori>t</allele_ori>
 266         <allele_mut>c</allele_mut>
 267         <dnFlank>ggaaaccctatttccccaccccagc</dnFlank>
 268         <restriction_changes>+Hpy188I, +SfaNI, -XcmI</restriction_changes>
 269     </DNA>
 270     <RNA number="1" start="2766" end="2766" length="1" isMutation="1">
 271         <label>unknown</label>
 272         <proof>experimental</proof>
 273         <upFlank>tctatttccacacccagtgaagcat</upFlank>
 274         <allele_ori>t</allele_ori>
 275         <allele_mut>c</allele_mut>
 276         <dnFlank>ggaaaccctatttccccaccccagc</dnFlank>
 277         <restriction_changes>+Hpy188I, +SfaNI, -XcmI</restriction_changes>
 278         <region>3'UTR</region>
 279     </RNA>
 280 </seqDiff>
 281 <seqDiff id="J02933" moltype="dna" offset="521" sysname="g.+12165A&gt;G">
 282     <DNA number="1" start="12165" end="12165" length="1" isMutation="1">
 283         <label>point</label>
 284         <label>transition</label>
 285         <proof>experimental</proof>
 286         <upFlank>cgcacacctgtggtgcctgccaccc</upFlank>
 287         <allele_ori>a</allele_ori>
 288         <allele_mut>g</allele_mut>
 289         <dnFlank>ctgggttgcccatgattcatttttg</dnFlank>
 290         <restriction_changes>+AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I, -TspRI</restriction_changes>
 291         <region dist="1027">3'UTR</region>
 292     </DNA>
 293     <RNA number="1" start="2428" end="2428" length="1" isMutation="1">
 294         <label>unknown</label>
 295         <proof>computed</proof>
 296         <upFlank>cgcacacctgtggtgcctgccaccc</upFlank>
 297         <allele_ori>a</allele_ori>
 298         <allele_mut>g</allele_mut>
 299         <dnFlank>ctgggttgcccatgattcatttttg</dnFlank>
 300         <restriction_changes>+AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I, -TspRI</restriction_changes>
 301         <region dist="-1">3'UTR</region>
 302     </RNA>
 303 </seqDiff>
 304 <seqDiff id="J02933" moltype="dna" offset="521" sysname="g.+4G&gt;T" trivname="V2F">
 305     <DNA number="1" start="4" end="4" length="1" isMutation="1">
 306         <label>point</label>
 307         <label>transversion</label>
 308         <proof>computed</proof>
 309         <upFlank>gcagcactgcagagatttcatcatg</upFlank>
 310         <allele_ori>g</allele_ori>
 311         <allele_mut>t</allele_mut>
 312         <dnFlank>tctcccaggccctcaggctcctctg</dnFlank>
 313         <restriction_changes>-BsmAI, -Eco31I</restriction_changes>
 314         <region value="1" dist="4">exon</region>
 315     </DNA>
 316     <RNA number="1" start="4" end="4" length="1" isMutation="1">
 317         <label>missense</label>
 318         <proof>experimental</proof>
 319         <upFlank>gcagcactgcagagatttcatcatg</upFlank>
 320         <allele_ori>g</allele_ori>
 321         <allele_mut>t</allele_mut>
 322         <dnFlank>tctcccaggccctcaggctcctctg</dnFlank>
 323         <codon codon_ori="gtc" codon_mut="ttc" codon_pos="1"></codon>
 324         <restriction_changes>-BsmAI, -Eco31I</restriction_changes>
 325         <region>coding</region>
 326     </RNA>
 327     <AA number="1" start="2" end="2" length="1" isMutation="1">
 328         <label>substitution</label>
 329         <label>nonconservative</label>
 330         <proof>computed</proof>
 331         <allele_ori>V</allele_ori>
 332         <allele_mut>F</allele_mut>
 333     </AA>
 334 </seqDiff>
 335 <seqDiff id="J02933" moltype="dna" offset="521" sysname="g.+1168G&gt;T" trivname="D34Y">
 336     <DNA number="1" start="1168" end="1168" length="1" isMutation="1">
 337         <label>point</label>
 338         <label>transversion</label>
 339         <proof>computed</proof>
 340         <upFlank>taaggcctcaggaggagaaacacgg</upFlank>
 341         <allele_ori>g</allele_ori>
 342         <allele_mut>t</allele_mut>
 343         <dnFlank>acatgccgtggaagccggggcctca</dnFlank>
 344         <restriction_changes>-BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I, +Tsp4CI</restriction_changes>
 345         <region value="1" dist="-29">exon</region>
 346     </DNA>
 347     <RNA number="1" start="100" end="100" length="1" isMutation="1">
 348         <label>missense</label>
 349         <proof>experimental</proof>
 350         <upFlank>taaggcctcaggaggagaaacacgg</upFlank>
 351         <allele_ori>g</allele_ori>
 352         <allele_mut>t</allele_mut>
 353         <dnFlank>acatgccgtggaagccggggcctca</dnFlank>
 354         <codon codon_ori="gac" codon_mut="tac" codon_pos="1"></codon>
 355         <restriction_changes>-BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I, +Tsp4CI</restriction_changes>
 356         <region>coding</region>
 357     </RNA>
 358     <AA number="1" start="34" end="34" length="1" isMutation="1">
 359         <label>substitution</label>
 360         <label>nonconservative</label>
 361         <proof>computed</proof>
 362         <allele_ori>D</allele_ori>
 363         <allele_mut>Y</allele_mut>
 364     </AA>
 365 </seqDiff>
 366 <seqDiff id="J02933" moltype="dna" offset="521" sysname="g.-4C&gt;G">
 367     <DNA number="1" start="-4" end="-4" length="1" isMutation="1">
 368         <label>point</label>
 369         <label>transversion</label>
 370         <proof>computed</proof>
 371         <upFlank>ggcaggggcagcactgcagagattt</upFlank>
 372         <allele_ori>c</allele_ori>
 373         <allele_mut>g</allele_mut>
 374         <dnFlank>atcatggtctcccaggccctcaggc</dnFlank>
 375         <restriction_changes>+BclI, +DpnI, +MboI</restriction_changes>
 376         <region dist="-4">5'UTR</region>
 377     </DNA>
 378     <RNA number="1" start="-4" end="-4" length="1" isMutation="1">
 379         <label>unknown</label>
 380         <proof>experimental</proof>
 381         <upFlank>ggcaggggcagcactgcagagattt</upFlank>
 382         <allele_ori>c</allele_ori>
 383         <allele_mut>g</allele_mut>
 384         <dnFlank>atcatggtctcccaggccctcaggc</dnFlank>
 385         <restriction_changes>+BclI, +DpnI, +MboI</restriction_changes>
 386         <region dist="31">5'UTR</region>
 387     </RNA>
 388 </seqDiff>