Difference between revisions of "Canavan Disease: Task 07 - Supplement"

From Bioinformatikpedia
(→‎HGMD)
(→‎HGMD)
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|rs371394875
  
|rs371394875
 
|| ACG-ACA || Thr-Thr || 302
  
|| ACG-ACA || Thr-Thr || 302
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|-
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|}
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<center><small>'''<caption>''' text.</caption></small></center>
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</figtable>
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  +
  +
  +
be found in '''<xr id="omim"> Table </xr>'''.
  +
<figtable id="omim">
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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;" | OMIM: Mutations associated with Canavan Disease
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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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! 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="9" | '''Mutation'''
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|rs104894551
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|| GLU-GLY || 24
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|-
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|rs104894553
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|| ARG-HIS || 71
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|-
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|rs104894548
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|| CYS-ARG || 152
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|-
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|rs104894549
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|| CYS-TER || 218
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|-
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|rs12948217
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|| TYR-TER || 231
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|-
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|rs104894550
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|| TYR-CYS || 231
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|-
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|rs104894552
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|| ASP-VAL || 249
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|-
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|rs28940279
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|| GLU-ALA || 285
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|-
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|rs28940574
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|| ALA-GLU || 305
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|-
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! rowspan="3" | other
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| 4-BP DEL
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|| AGAA || 876
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|-
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|1-BP DEL
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|| T || 32
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|-
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|EX4 DEL
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|| ||
 
|-
  
|-
 
|}
  
|}

Revision as of 12:34, 22 August 2013

Researching SNPs

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
text.

</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
text.

</figtable>


be found in <xr id="omim"> Table </xr>. <figtable id="omim">

OMIM: Mutations associated with Canavan Disease
Type ID Mutation Position
Mutation rs104894551 GLU-GLY 24
rs104894553 ARG-HIS 71
rs104894548 CYS-ARG 152
rs104894549 CYS-TER 218
rs12948217 TYR-TER 231
rs104894550 TYR-CYS 231
rs104894552 ASP-VAL 249
rs28940279 GLU-ALA 285
rs28940574 ALA-GLU 305
other 4-BP DEL AGAA 876
1-BP DEL T 32
EX4 DEL
text.

</figtable>

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