Difference between revisions of "Canavan Disease: Task 07 - Journal"
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(Replaced content with "Researching SNPs == HGMD == ...") |
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| + | [[Canavan_Disease:_Task_07_-_Researching_SNPs|Researching SNPs]] |
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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="4" 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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| − | | '''Missense''' || CM100918 || ATG-ACG || Met-Thr || 1 |
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| − | |- |
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| − | || CM063852 || GTT-GGT || Val-Gly || 14 |
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| − | |- |
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| − | || CM960084 || ATC-ACC || Ile-Thr || 16 |
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| − | |- |
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| − | || CM067343 || tGGA-AGA || Gly-Arg || 18 |
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| − | |- |
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| − | || CM001608 || CAT-CCT || His-Pro || 21 |
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| − | |- |
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| − | || CM023602 || GAG-GGG || Glu-Gly || 24 |
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| − | |- |
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| − | || CM960085 || cGGA-AGA || Gly-Arg || 27 |
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| − | |- |
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| − | || CM001609 || aGCA-ACA || Ala-Thr || 57 |
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| − | |- |
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| − | || CM023603 || GAC-GCC || Asp-Ala || 68 |
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| − | |- |
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| − | || CM100919 || AAT-AGT || Asn-Ser || 70 |
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| − | |- |
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| − | || CM060201 || CGC-CAC || Arg-His || 71 |
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| − | |- |
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| − | || CM960086 || GACc-GAA || Asp-Glu || 114 |
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| − | |- |
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| − | || CM023014 || tGAC-TAC || Asp-Tyr || 114 |
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| − | |- |
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| − | || CM063846 || AAC-ATC || Asn-Ile || 121 |
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| − | |- |
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| − | || CM960087 || GGG-GAG || Gly-Glu || 123 |
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| − | |- |
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| − | || CM980125 || ATT-ACT || Ile-Thr || 143 |
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| − | |- |
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| − | || CM063849 || cATT-TTT || Ile-Phe || 143 |
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| − | |- |
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| − | || CM950102 || cTGC-CGC || Cys-Arg || 152 |
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| − | |- |
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| − | || CM960088 || TGC-TAC || Cys-Tyr || 152 |
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| − | |- |
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| − | || CM023604 || TGCt-TGG || Cys-Trp || 152 |
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| − | |- |
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| − | || CM063847 || ACC-ATC || Thr-Ile || 166 |
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| − | |- |
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| − | || CM001610 || CGT-CAT || Arg-His || 168 |
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| − | |- |
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| − | || CM960089 || tCGT-TGT || Arg-Cys || 168 |
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| − | |- |
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| − | || CM063850 || CCT-CTT || Pro-Leu || 181 |
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| − | |- |
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| − | || CM001611 || tCCT-ACT || Pro-Thr || 181 |
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| − | |- |
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| − | || CM990193 || CCT-CAT || Pro-His || 183 |
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| − | |- |
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| − | || CM990194 || gGTT-TTT || Val-Phe || 186 |
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| − | |- |
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| − | || CM990195 || ATG-AGG || Met-Arg || 195 |
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| − | |- |
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| − | || CM055097 || aAAA-GAA || Lys-Glu || 213 |
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| − | |- |
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| − | || CM086530 || ATA-ACA || Ile-Thr || 226 |
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| − | |- |
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| − | || CM994594 || TAC-TGC || Tyr-Cys || 231 |
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| − | |- |
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| − | || CM023607 || CAT-CGT || His-Arg || 244 |
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| − | |- |
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| − | || CM063848 || CAT-CTT || His-Leu || 244 |
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| − | |- |
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| − | || CM023015 || GAT-GTT || Asp-Val || 249 |
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| − | |- |
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| − | || CM063851 || CTG-CCG || Leu-Pro || 272 |
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| − | |- |
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| − | || CM950104 || cGGA-AGA || Gly-Arg || 274 |
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| − | |- |
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| − | || CM990196 || CCC-CTC || Pro-Leu || 280 |
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| − | |- |
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| − | || CM990197 || cCCC-TCC || Pro-Ser || 280 |
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| − | |- |
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| − | || CM930046 || GAG-GCG || Glu-Ala || 285 |
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| − | |- |
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| − | || CM990198 || cGCA-ACA || Ala-Thr || 287 |
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| − | |- |
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| − | || CM034717 || TAT-TGT || Tyr-Cys || 288 |
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| − | |- |
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| − | || CM950105 || TTT-TCT || Phe-Ser || 295 |
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| − | |- |
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| − | || CM940124 || GCA-GAA || Ala-Glu || 305 |
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| − | |- |
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| − | || CM023608 || TAG-TGG || Term-Trp || 314 |
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| − | |- |
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| − | | '''Nonsense''' || CM990192 || TATg-TAG || Tyr-Term || 109 |
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| − | |- |
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| − | || CM023605 || tCAA-TAA || Gln-Term || 184 |
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| − | |- |
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| − | || CM023606 || aGAA-TAA || Glu-Term || 214 |
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| − | |- |
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| − | || CM950103 || TGCg-TGA || Cys-Term || 218 |
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| − | |- |
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| − | || CM940123 || 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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