Difference between revisions of "Canavan Disease: Task 07 - Journal"
From Bioinformatikpedia
(Replaced content with "Researching SNPs == HGMD == ...") |
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== HGMD == |
== HGMD == |
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| + | ... |
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| − | be found in '''<xr id="misnon"> Table </xr>'''. |
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| − | <figtable id="misnon"> |
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| − | {| border="1" cellpadding="5" cellspacing="0" align="center" |
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| − | |- |
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| − | ! colspan="5" style="background:#87CEFA;" | Missense and Nonsense Mutations |
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| − | |- |
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| − | ! style="background:#BFBFBF;" align="center" | Type |
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| − | ! style="background:#BFBFBF;" align="center" | ID |
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| − | ! colspan="2" style="background:#BFBFBF;" align="center" | Mutation |
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| − | ! style="background:#BFBFBF;" align="center" | Position |
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| − | |- |
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| − | ! rowspan="44" | '''Missense''' |
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| − | | CM100918 |
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| − | || ATG-ACG || Met-Thr || 1 |
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| − | |- |
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| − | | CM063852 |
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| − | || GTT-GGT || Val-Gly || 14 |
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| − | |- |
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| − | | CM960084 |
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| − | || ATC-ACC || Ile-Thr || 16 |
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| − | |- |
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| − | | CM067343 |
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| − | || tGGA-AGA || Gly-Arg || 18 |
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| − | |- |
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| − | | CM001608 |
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| − | || CAT-CCT || His-Pro || 21 |
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| − | |- |
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| − | | CM023602 |
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| − | || GAG-GGG || Glu-Gly || 24 |
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| − | |- |
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| − | | CM960085 |
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| − | || cGGA-AGA || Gly-Arg || 27 |
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| − | |- |
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| − | | CM001609 |
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| − | || aGCA-ACA || Ala-Thr || 57 |
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| − | |- |
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| − | | CM023603 |
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| − | || GAC-GCC || Asp-Ala || 68 |
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| − | |- |
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| − | | CM100919 |
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| − | || AAT-AGT || Asn-Ser || 70 |
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| − | |- |
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| − | | CM060201 |
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| − | || CGC-CAC || Arg-His || 71 |
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| − | |- |
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| − | | CM960086 |
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| − | || GACc-GAA || Asp-Glu || 114 |
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| − | |- |
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| − | | CM023014 |
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| − | || tGAC-TAC || Asp-Tyr || 114 |
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| − | |- |
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| − | | CM063846 |
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| − | || AAC-ATC || Asn-Ile || 121 |
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| − | |- |
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| − | | CM960087 |
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| − | || GGG-GAG || Gly-Glu || 123 |
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| − | |- |
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| − | | CM980125 |
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| − | || ATT-ACT || Ile-Thr || 143 |
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| − | |- |
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| − | | CM063849 |
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| − | || cATT-TTT || Ile-Phe || 143 |
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| − | |- |
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| − | | CM950102 |
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| − | || cTGC-CGC || Cys-Arg || 152 |
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| − | |- |
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| − | | CM960088 |
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| − | || TGC-TAC || Cys-Tyr || 152 |
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| − | |- |
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| − | | CM023604 |
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| − | || TGCt-TGG || Cys-Trp || 152 |
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| − | |- |
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| − | | CM063847 |
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| − | || ACC-ATC || Thr-Ile || 166 |
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| − | |- |
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| − | | CM001610 |
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| − | || CGT-CAT || Arg-His || 168 |
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| − | |- |
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| − | | CM960089 |
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| − | || tCGT-TGT || Arg-Cys || 168 |
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| − | |- |
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| − | | CM063850 |
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| − | || CCT-CTT || Pro-Leu || 181 |
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| − | |- |
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| − | | CM001611 |
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| − | || tCCT-ACT || Pro-Thr || 181 |
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| − | |- |
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| − | | CM990193 |
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| − | || CCT-CAT || Pro-His || 183 |
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| − | |- |
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| − | | CM990194 |
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| − | || gGTT-TTT || Val-Phe || 186 |
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| − | |- |
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| − | | CM990195 |
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| − | || ATG-AGG || Met-Arg || 195 |
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| − | |- |
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| − | | CM055097 |
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| − | || aAAA-GAA || Lys-Glu || 213 |
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| − | |- |
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| − | | CM086530 |
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| − | || ATA-ACA || Ile-Thr || 226 |
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| − | |- |
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| − | | CM994594 |
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| − | || TAC-TGC || Tyr-Cys || 231 |
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| − | |- |
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| − | | CM023607 |
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| − | || CAT-CGT || His-Arg || 244 |
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| − | |- |
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| − | | CM063848 |
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| − | || CAT-CTT || His-Leu || 244 |
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| − | |- |
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| − | | CM023015 |
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| − | || GAT-GTT || Asp-Val || 249 |
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| − | |- |
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| − | | CM063851 |
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| − | || CTG-CCG || Leu-Pro || 272 |
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| − | |- |
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| − | | CM950104 |
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| − | || cGGA-AGA || Gly-Arg || 274 |
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| − | |- |
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| − | | CM990196 |
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| − | || CCC-CTC || Pro-Leu || 280 |
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| − | |- |
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| − | | CM990197 |
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| − | || cCCC-TCC || Pro-Ser || 280 |
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| − | |- |
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| − | | CM930046 |
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| − | || GAG-GCG || Glu-Ala || 285 |
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| − | |- |
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| − | | CM990198 |
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| − | || cGCA-ACA || Ala-Thr || 287 |
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| − | |- |
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| − | | CM034717 |
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| − | || TAT-TGT || Tyr-Cys || 288 |
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| − | |- |
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| − | | CM950105 |
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| − | || TTT-TCT || Phe-Ser || 295 |
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| − | |- |
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| − | | CM940124 |
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| − | || GCA-GAA || Ala-Glu || 305 |
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| − | |- |
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| − | | CM023608 |
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| − | || TAG-TGG || Term-Trp || 314 |
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| − | |- |
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| − | ! rowspan="5" | '''Nonsense''' |
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| − | | CM990192 |
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| − | || TATg-TAG || Tyr-Term || 109 |
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| − | |- |
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| − | | CM023605 |
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| − | || tCAA-TAA || Gln-Term || 184 |
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| − | |- |
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| − | | CM023606 |
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| − | || aGAA-TAA || Glu-Term || 214 |
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| − | |- |
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| − | | CM950103 |
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| − | || TGCg-TGA || Cys-Term || 218 |
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| − | |- |
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| − | | CM940123 |
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| − | || TACc-TAA || Tyr-Term || 231 |
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| − | |- |
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| − | |} |
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| − | <center><small>'''<caption>''' Overview of the dataset composition for Task 04, containing a brief description of the the chosen structures. Sequence identity and CATH classification similarities with respect to reference sequence 2I3C.</caption></small></center> |
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| − | </figtable> |
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