Canavan Disease: Task 07 - Supplement

Link back to Task 07: Researching SNPs

HGMD

All mutations found in HGMD are listed in the following <xr id="misnon"></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

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</figtable>

DBSNP

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

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</figtable>

OMIM

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

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</figtable>

SNPdbe

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

SNPdbe: Mutations for ASPA
ID	Mutation	Position	Canavan
rs142041344	Cys-Arg	4
N/A	Ile-Thr	16	*
N/A	His-Pro	21	*
rs104894551	Glu-Gly	24	*
N/A	Gly-Arg	27	*
rs138158568	His-Arg	33
rs17850703	Thr-Ala	53
N/A	Ala-Thr	57	*
N/A	Asp-Ala	68	*
N/A	Arg-Lys	71
rs104894553	Arg-His	71
rs80099330	Met-Thr	82
rs181347986	Ile-Val	111
N/A	Asp-Glu	114	*
N/A	Asp-Tyr	114	*
rs148451498	Asn-Asp	121
N/A	Gly-Glu	123	*
N/A	Ile-Thr	143	*
N/A	Ile-Val	143
N/A	Cys-Trp	152	*
N/A	Cys-Tyr	152	*
rs104894548	Cys-Arg	152	*
rs2228435	Val-Ile	154
rs140357187	Ile-Thr	157
N/A	Tyr-Phe	164
N/A	Arg-Lys	168
N/A	Arg-Cys	168	*
N/A	Arg-His	168	*
rs144321760	Ile-Thr	170
N/A	Glu-Ala	178
N/A	Pro-Thr	181	*
N/A	Pro-His	183	*
N/A	Val-Phe	186	*
N/A	Met-Arg	195	*
rs147763700	Ala-Ser	202
rs139053885	Ile-Thr	220
rs104894550	Tyr-Cys	231	*
rs149842031	Glu-Lys	235
rs145085349	Ile-Thr	239
N/A	His-Arg	244	*
rs104894552	Asp-Val	249	*
N/A	Ile-Thr	270
N/A	Gly-Arg	274	*
rs140581464	Val-Met	278
rs145717248	Tyr-His	279
N/A	Pro-Leu	280	*
N/A	Pro-Ser	280	*
rs141858640	Val-Met	281
N/A	Glu-Asp	285
rs28940279	Glu-Ala	285	*
N/A	Ala-Thr	287	*
N/A	Tyr-Phe	288
N/A	Phe-Ser	295	*
rs28940574	Ala-Glu	305	*
N/A	Cys-Gly	310

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</figtable>

SNPedia

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

SNPedia: Mutations
ID	Mutation	Position	Canavan
rs104894551	Glu-Gly	24
rs104894553	Arg-His	71	*
rs104894548	Cys-Arg	152
rs104894549	Cys-Term	218
rs104894550	Tyr-Cys	231
rs12948217	Tyr-X	231	*
rs104894552	Asp-Val	249
rs28940279	Glu-Ala	285	*
rs28940574	Ala-Glu	305	*
rs923375

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</figtable>