Canavan Disease: Task 07 - Supplement
From Bioinformatikpedia
HGMD
be found in <xr id="misnon"> Table </xr>. <figtable id="misnon">
| Missense and Nonsense Mutations | ||||
|---|---|---|---|---|
| Type | ID | Mutation | Position | |
| Missense | CM100918 | ATG-ACG | Met-Thr | 1 |
| CM063852 | GTT-GGT | Val-Gly | 14 | |
| CM960084 | ATC-ACC | Ile-Thr | 16 | |
| CM067343 | tGGA-AGA | Gly-Arg | 18 | |
| CM001608 | CAT-CCT | His-Pro | 21 | |
| CM023602 | GAG-GGG | Glu-Gly | 24 | |
| CM960085 | cGGA-AGA | Gly-Arg | 27 | |
| CM001609 | aGCA-ACA | Ala-Thr | 57 | |
| CM023603 | GAC-GCC | Asp-Ala | 68 | |
| CM100919 | AAT-AGT | Asn-Ser | 70 | |
| CM060201 | CGC-CAC | Arg-His | 71 | |
| CM960086 | GACc-GAA | Asp-Glu | 114 | |
| CM023014 | tGAC-TAC | Asp-Tyr | 114 | |
| CM063846 | AAC-ATC | Asn-Ile | 121 | |
| CM960087 | GGG-GAG | Gly-Glu | 123 | |
| CM980125 | ATT-ACT | Ile-Thr | 143 | |
| CM063849 | cATT-TTT | Ile-Phe | 143 | |
| CM950102 | cTGC-CGC | Cys-Arg | 152 | |
| CM960088 | TGC-TAC | Cys-Tyr | 152 | |
| CM023604 | TGCt-TGG | Cys-Trp | 152 | |
| CM063847 | ACC-ATC | Thr-Ile | 166 | |
| CM001610 | CGT-CAT | Arg-His | 168 | |
| CM960089 | tCGT-TGT | Arg-Cys | 168 | |
| CM063850 | CCT-CTT | Pro-Leu | 181 | |
| CM001611 | tCCT-ACT | Pro-Thr | 181 | |
| CM990193 | CCT-CAT | Pro-His | 183 | |
| CM990194 | gGTT-TTT | Val-Phe | 186 | |
| CM990195 | ATG-AGG | Met-Arg | 195 | |
| CM055097 | aAAA-GAA | Lys-Glu | 213 | |
| CM086530 | ATA-ACA | Ile-Thr | 226 | |
| CM994594 | TAC-TGC | Tyr-Cys | 231 | |
| CM023607 | CAT-CGT | His-Arg | 244 | |
| CM063848 | CAT-CTT | His-Leu | 244 | |
| CM023015 | GAT-GTT | Asp-Val | 249 | |
| CM063851 | CTG-CCG | Leu-Pro | 272 | |
| CM950104 | cGGA-AGA | Gly-Arg | 274 | |
| CM990196 | CCC-CTC | Pro-Leu | 280 | |
| CM990197 | cCCC-TCC | Pro-Ser | 280 | |
| CM930046 | GAG-GCG | Glu-Ala | 285 | |
| CM990198 | cGCA-ACA | Ala-Thr | 287 | |
| CM034717 | TAT-TGT | Tyr-Cys | 288 | |
| CM950105 | TTT-TCT | Phe-Ser | 295 | |
| CM940124 | GCA-GAA | Ala-Glu | 305 | |
| CM023608 | TAG-TGG | Term-Trp | 314 | |
| Nonsense | CM990192 | TATg-TAG | Tyr-Term | 109 |
| CM023605 | tCAA-TAA | Gln-Term | 184 | |
| CM023606 | aGAA-TAA | Glu-Term | 214 | |
| CM950103 | TGCg-TGA | Cys-Term | 218 | |
| CM940123 | TACc-TAA | Tyr-Term | 231 | |
</figtable>
be found in <xr id="dbsnp"> Table </xr>. <figtable id="dbsnp">
| Missense and Nonsense Mutations | ||||
|---|---|---|---|---|
| ID | Mutation | Position | ||
| rs145616193 | ACC-ACT | Tyr-Tyr | 26 | |
| rs144639820 | GCT-GCC | Ala-Ala | 93 | |
| rs141755746 | TAC-TAT | Tyr-Tyr | 153 | |
| rs369805590 | CAT-CAC | His-His | 207 | |
| rs=149189911 | AAT-AAC | Asn-Asn | 236 | |
| rs=373410075 | GAC-GAT | Asp-Asp | 251 | |
| rs=78677072 | ACC-ACT | Thr-Thr | 277 | |
| rs=148081446 | CCC-CCT | Pro-Pro | 280 | |
| rs=370915844 | AAT-AAC | Asn-Asn | 284 | |
| rs=138062143 | GCC-GCT | Ala-Ala | 286 | |
| rs=375736464 | TAC-TAT | Tyr-Tyr | 289 | |
| rs=371394875 | ACG-ACA | Thr-Thr | 302 | |
</figtable>
