Canavan Disease: Task 07 - Journal

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>