Canavan Disease: Task 07 - Journal

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Revision as of 16:07, 7 August 2013 by Boehma (talk | contribs) (HGMD)

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
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.

</figtable>