Difference between revisions of "Canavan Disease: Task 07 - Supplement"
From Bioinformatikpedia
(→HGMD) |
(→HGMD) |
||
| Line 7: | Line 7: | ||
{| border="1" cellpadding="5" cellspacing="0" align="center" |
{| border="1" cellpadding="5" cellspacing="0" align="center" |
||
|- |
|- |
||
| − | ! colspan="5" style="background:#87CEFA;" | Missense and Nonsense Mutations |
+ | ! colspan="5" style="background:#87CEFA;" | HGMD: Missense and Nonsense Mutations |
|- |
|- |
||
! style="background:#BFBFBF;" align="center" | Type |
! style="background:#BFBFBF;" align="center" | Type |
||
| Line 173: | Line 173: | ||
{| border="1" cellpadding="5" cellspacing="0" align="center" |
{| border="1" cellpadding="5" cellspacing="0" align="center" |
||
|- |
|- |
||
| − | ! colspan="5" style="background:#87CEFA;" | |
+ | ! colspan="5" style="background:#87CEFA;" | dbSNP: Silent Mutations |
|- |
|- |
||
! style="background:#BFBFBF;" align="center" | ID |
! style="background:#BFBFBF;" align="center" | ID |
||
| Line 191: | Line 191: | ||
|| CAT-CAC || His-His || 207 |
|| CAT-CAC || His-His || 207 |
||
|- |
|- |
||
| + | |rs149189911 |
||
| − | |rs=149189911 |
||
|| AAT-AAC || Asn-Asn || 236 |
|| AAT-AAC || Asn-Asn || 236 |
||
|- |
|- |
||
| + | |rs373410075 |
||
| − | |rs=373410075 |
||
|| GAC-GAT || Asp-Asp || 251 |
|| GAC-GAT || Asp-Asp || 251 |
||
|- |
|- |
||
| + | |rs78677072 |
||
| − | |rs=78677072 |
||
|| ACC-ACT || Thr-Thr || 277 |
|| ACC-ACT || Thr-Thr || 277 |
||
|- |
|- |
||
| + | |rs148081446 |
||
| − | |rs=148081446 |
||
|| CCC-CCT || Pro-Pro || 280 |
|| CCC-CCT || Pro-Pro || 280 |
||
|- |
|- |
||
| + | |rs370915844 |
||
| − | |rs=370915844 |
||
|| AAT-AAC || Asn-Asn || 284 |
|| AAT-AAC || Asn-Asn || 284 |
||
|- |
|- |
||
| + | |rs138062143 |
||
| − | |rs=138062143 |
||
|| GCC-GCT || Ala-Ala || 286 |
|| GCC-GCT || Ala-Ala || 286 |
||
|- |
|- |
||
| + | |rs375736464 |
||
| − | |rs=375736464 |
||
|| TAC-TAT || Tyr-Tyr || 289 |
|| TAC-TAT || Tyr-Tyr || 289 |
||
|- |
|- |
||
| + | |rs371394875 |
||
| − | |rs=371394875 |
||
|| ACG-ACA || Thr-Thr || 302 |
|| ACG-ACA || Thr-Thr || 302 |
||
|- |
|- |
||
Revision as of 12:15, 22 August 2013
HGMD
be found in <xr id="misnon"> Table </xr>. <figtable id="misnon">
| HGMD: 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">
| dbSNP: Silent 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 | |
| rs149189911 | AAT-AAC | Asn-Asn | 236 | |
| rs373410075 | GAC-GAT | Asp-Asp | 251 | |
| rs78677072 | ACC-ACT | Thr-Thr | 277 | |
| rs148081446 | CCC-CCT | Pro-Pro | 280 | |
| rs370915844 | AAT-AAC | Asn-Asn | 284 | |
| rs138062143 | GCC-GCT | Ala-Ala | 286 | |
| rs375736464 | TAC-TAT | Tyr-Tyr | 289 | |
| rs371394875 | ACG-ACA | Thr-Thr | 302 | |
</figtable>
