Arylsulfatase A Database

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Region		Base Change	Amino Acid Change	ASA Activity	Phenotype	Ethnicity
	0	gene deletion		0	Infantile
	0	gene deletion		0	Infantile
E1	7	del.G		0	Late Infantile
E1	85	G>A	asp 29 --> asn	0	Infantile	Czech or Slovak
E1	94	G>A	gly 32 --> ser	slight		Spanish
E1	103	del.8 295 nt		0
E1	129	C>A	ser 43 --> arg		Adult
E1	203	T>C	leu 68 --> pro	0		Spanish
E1	205	del.TG	Frame shift	0	Infantile	East Indian
I1	217	A>G	see remarks	slight	Juvenile
E2	376	T>C	leu 76 --> pro	normal?	Juvenile
E2	386	C>T	gly 79 --> gly	normal
E2	387	del.C	Frame shift	0
E2	394	C>T	pro 82 --> leu	0 (inferred)
E2	399	C>T	arg 84 --> trp	slight		Spanish
E2	400	G>A	arg 84 --> gln	slight	Late Onset
E2	406	G>A	gly 86 --> asp	0		Muslim Arab
E2	407	del.C	Frame shift	0
E2	429	C>G	pro 94 --> ala			Spanish
E2	433	G>A	ser 95 --> asn
E2	435	inv. TC-->CT	ser 96 --> leu	0		Muslim Arab
E2	436	C>T	ser 96 --> phe	0	Late Infantile
E2	445	G>T	gly 99 --> val	0		Spanish
E2	445	G>A	gly 99 --> asp	0	Late Infantile-Adult	Japanese
E2	447	del.C	Frame shift	0	Late Infantile
E2	504	G>A	gly 119 --> arg
E2	513	G>A	gly 122 --> ser	slight	Adult	Japanese, Caucasian
E2	520	G>A	tyr 124 --> term	0
E2	541	del.12 nt	131-135 --> val	0
E2	553	T>C	leu 135 --> pro	0	Adult	Italian
E2	555	C>T	pro 136 --> ser	0		Spanish, Jewish
E2	559	C>T	pro 136 --> leu	0	Late Infantile	Ashkenazi Jewish
E2	561	ins.C	Frame shift	0	Late Infantile	Greek, Portuguese
E2	576	C>G	arg 143 --> gly	0-5%	Juvenile, Adult	Vietnamese
E2	592	C>T	pro 148 --> leu	slight?	Juvenile
E2	602	C>T	his 151 --> his	normal		German, Italian, Greek
E2	603	G>A	asp 152 --> tyr
E2	608	G>C	gln 153 --> his	0	Late Infantile	Japanese
I2	609	G>A	splice aggt --> agat	0	Late Infantile	Various
E3	723	G>A	gly 154 --> asp
E3	727	C>G	pro 155 --> arg			Lebanese
E3	727	C>T	pro 155 --> leu		Juvenile	American (?)
E3	728	T>C	cys 156 --> arg	50%	Adult	Czech or Slovak
E3	752	del.7 nt	Frame shift	0
E3	762	C>G	pro 167 --> arg			Caucasian
E3	767	G>A	asp 169 --> asn			Polynesian
E3	777	G>A	cys 172 --> tyr	slight
E3	799	T>G	ile 179 --> ser	slight	Juvenile	Italian
E3	805	T>A	leu 181 --> gln
E3	833	G>C	gln 190 --> his	0		Muslim Arab
E3	834	C>A	pro 191 --> thr	0?	Juvenile
E3	841	G>A	trp 193 --> term	0		Spanish
E3	842	G>T	trp 193 --> cys	lowered
E3	865	A>G	tyr 201 --> cys	slight
E3	893	C>T	ala 210 --> ala	normal		Spanish
E3	898	C>T	ala 212 --> val	0 or slight	Adult	Caucasian
E3	918	T>G	phe 219 --> val	<1%	Adult	Tamil
E3	934	C>T	ala 224 --> val	slight	Adult-type	Caucasian
I3	939	A>G			Late Infantile	Thai
I3	942	G>A	splice acgt --> agat	0
E4	1016	C>T	his 227 --> tyr			Spanish
E4	1028	C>A	pro 231 --> thr
E4	1067	C>T	arg 244 --> cys	slight		Caucasian
E4	1068	G>A	arg 244 --> his
E4	1070	G>A	gly 245 --> arg	0	Juvenile	Japanese
E4	1077	T>C	phe 247 --> ser		Juvenile	Ukranian
E4	1086	C>A	ser 250 --> tyr
E4	1094	G>A	glu 253 --> lys	0	Late Infantile
E4	1100	G>C	asp 255 --> his	0	Late Infantile	Belgian
E4	1158	C>T	thr 274 --> met	0-slight?	Late Infantile	Lebanese, Christian Arab
E4	1178	G>T	asp 281 --> tyr	0-slight	Adult
I4	1186	G>A	splice gggt --> ggat	0	Late Infantile	Navajo Indian, Caucasian
I4	1294	G>C		normal
I4	1386	A>G		normal
I4	1497	G>A	splice agac --> ggat	0
E5	1505	A>C	thr 286 --> pro	low	Adult onset	Asian Indian
E5	1511	C>T	arg 288 --> cys			Caucasian
E5	1512	G>A	arg 288 --> his	slight
E5	1526	G>A	gly 293 --> ser	0	Adult	Czech or Slovak
E5	1527	G>A	gly 293 --> asp	slight?	Very Late Onset	Italian
E5	1530	G>A	cys 294 --> tyr	0	Juvenile	Czech or Slovak
E5	1533	C>A	ser 295 --> tyr	0	Late Infantile	Saudi Arabian
E5	1542	T>C	leu 298 --> ser	0	Late Infantile	Japanese
E5	1544	C>T	arg 299 --> trp		Late Infantile	African American / Caucasian
E5	1548	G>T	cys 300 --> phe	<1%	Late Infantile	Portuguese
E5	1565	T>C	tyr 306 --> his
E5	1572	G>A	gly 308 --> asp	0
E5	1572	G>T	gly 308 --> val	0	Late Infantile	Japanese
E5	1574	G>A	gly 309 --> ser	0-slight	Late Infantile
E5	1580	C>T	arg 311 --> term	0
E5	1581	G>A	arg 311 --> gln	0-slight?
E5	1583	G>T	glu 312 --> asp	low
E5	1589	G>A	ala 314 --> thr
E5	1602	G>A	trp 318 --> term	0-slight?	Juvenile, Adult	Vietnamese
E5	1622	G>T	gly 325 --> cys			Indian
E5	1622	G>A	gly 325 --> ser
I5	1623	G>A	splice site
E6	1720	C>T	thr 327 --> ile	0		Spanish
E6	1724	G>A	glu 329 --> arg
E6	1743	A>T	asp 335 --> val	0	Late Infantile	Christian Arab
E6	1776	del.C	Frame shift	0
E6	1788	A>G	arg 350 --> ser	normal
E6	1840	G>T or C	lys 367 --> asn
I6	2033	C>T		normal		Spanish
I6	2059	C>T		normal		Spanish
I6	2079	C>G		0		Spanish
E7	2097	C>T	arg 370 --> trp	0		Christian Arab
E7	2098	G>A	arg 370 --> gln	0		Jewish
E7	2119	C>T	pro 377 --> leu	0	Late Infantile	Habbanite Jewish
E7	2132	C>G	asp 381 --> glu	0	Juvenile	Ukranian
E7	2133	G>A	glu 382 --> lys		Juvenile	Caucasian
E7	2133	G>C	glu 382 --> gln
E7	2139	C>T	arg 384 --> cys
E7	2157	C>T	arg 390 --> trp	0 (inferred)		Indian
E7	2158	G>A	arg 390 --> gln	0	Juvenile
E7	2161	C>G	thr 391 --> ser	normal+
E7	2178	C>T	his 397 --> tyr	slight
E7	2181	del.TTC	del. phe 398	0		Polynesian
I7	2195	G>A	splice gggt --> ggat	0
I7	2213	C>G		normal
E8	2320	del.9 nt		0	Late Infantile
E8	2324	del.AT	Frame shift	0	Late Infantile	Italian
E8	2327	C>T	thr 408 --> ile	slight	Adult	Spanish
E8	2330	C>T	thr 409 --> ile	some	Juvenile	Japanese
E8	2378	C>A	pro 425 --> thr	10-12%	Juvenile	Portuguese
E8	2381	C>T	pro 426 --> leu	slight
E8	2387	T>C	leu 428 --> pro	0	Late Infantile
E8	2390	A>C	tyr 429 --> ser
E8	2435	C>T	ala 464 --> val	low	Healthy
E8	2505	del.11 nt	deletion	0	Late Infantile
E8	2510	C>G	ala 469 --> gly	0?	Juvenile	Ukranian
E8	2560	C>T	gln 486 --> term	0		Caucasian
E8	2566	T>C	cys 488 --> arg	slight	Juvenile	French Canadian
E8	2569	T>G	cys 489 --> gly	slight?	Adult	Italian
E8	2587	duplic.	Frame shift
E8	2590	ins.4 nt	Frame shift	0.3%	Infantile	Greek
E8	2591	G>A	arg 496 --> his	normal	normal	African American
E8	2603	G>T	cys 500 --> phe
PA	2723	A>G	aataac --> agtaac	low

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