| blob | f388a216c98c6025a6c00b55a47720646ea5a9db |
1 ID ALD_HUMAN STANDARD; PRT; 745 AA.
2 AC P33897;
3 DT 01-FEB-1994 (Rel. 28, Created)
4 DT 01-FEB-1994 (Rel. 28, Last sequence update)
5 DT 15-JUN-2004 (Rel. 44, Last annotation update)
6 DE Adrenoleukodystrophy protein (ALDP).
7 GN ABCD1 OR ALD.
8 OS Homo sapiens (Human).
9 OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
10 OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
11 OX NCBI_TaxID=9606;
12 RN [1]
13 RP SEQUENCE FROM N.A.
14 RX MEDLINE=93180910; PubMed=8441467;
15 RA Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H.,
16 RA Poustka A.-M., Mandel J.-L., Aubourg P.;
17 RT "Putative X-linked adrenoleukodystrophy gene shares unexpected
18 RT homology with ABC transporters.";
19 RL Nature 361:726-730(1993).
20 RN [2]
21 RP SEQUENCE FROM N.A.
22 RA Platzer M., Bauer D., Brenner V., Drescher B., Nyakatura G.,
23 RA Reichwald K., Sandoval N., Coy J., Kioschis P., Korn B.,
24 RA Poustka A.-M., Rosenthal A.;
25 RL Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
26 RN [3]
27 RP SUBUNITS, AND CHARACTERIZATION OF VARIANTS X-ALD HIS-389; GLN-401;
28 RP ARG-484 AND GLN-591.
29 RX MEDLINE=20020240; PubMed=10551832;
30 RA Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R.,
31 RA Aubourg P.;
32 RT "Homo- and heterodimerization of peroxisomal ATP-binding cassette
33 RT half-transporters.";
34 RL J. Biol. Chem. 274:32738-32743(1999).
35 RN [4]
36 RP FUNCTION, AND CHARACTERIZATION OF VARIANTS X-ALD SER-512 AND LEU-606.
37 RX MEDLINE=21145507; PubMed=11248239;
38 RA Roerig P., Mayerhofer P., Holzinger A., Gaertner J.;
39 RT "Characterization and functional analysis of the nucleotide binding
40 RT fold in human peroxisomal ATP binding cassette transporters.";
41 RL FEBS Lett. 492:66-72(2001).
42 RN [5]
43 RP REVIEW.
44 RX MEDLINE=93283453; PubMed=8507690;
45 RA Aubourg P., Mosser J., Douar A.-M., Sarde C.-O., Lopez J.,
46 RA Mandel J.-L.;
47 RT "Adrenoleukodystrophy gene: unexpected homology to a protein involved
48 RT in peroxisome biogenesis.";
49 RL Biochimie 75:293-302(1993).
50 RN [6]
51 RP REVIEW ON VARIANTS.
52 RX MEDLINE=97338663; PubMed=9195223;
53 RA Dodd A., Rowland S.A., Hawkes S.L.J., Kennedy M.A., Love D.R.;
54 RT "Mutations in the adrenoleukodystrophy gene.";
55 RL Hum. Mutat. 9:500-511(1997).
56 RN [7]
57 RP REVIEW ON VARIANTS.
58 RX MEDLINE=21614879; PubMed=11748843;
59 RA Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D.,
60 RA Raymond G.V., Cutting G.R., Wanders R.J.A., Moser H.W.;
61 RT "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation
62 RT database: role in diagnosis and clinical correlations.";
63 RL Hum. Mutat. 18:499-515(2001).
64 RN [8]
65 RP VARIANT X-ALD LYS-291.
66 RX MEDLINE=94108454; PubMed=7904210;
67 RA Cartier N., Sarde C.-O., Douar A.-M., Mosser J., Mandel J.-L.,
68 RA Aubourg P.;
69 RT "Abnormal messenger RNA expression and a missense mutation in
70 RT patients with X-linked adrenoleukodystrophy.";
71 RL Hum. Mol. Genet. 2:1949-1951(1993).
72 RN [9]
73 RP VARIANTS X-ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND
74 RP PHE-515.
75 RX MEDLINE=95152524; PubMed=7849723;
76 RA Fuchs S., Sarde C.-O., Wedemann H., Schwinger E., Mandel J.-L.,
77 RA Gal A.;
78 RT "Missense mutations are frequent in the gene for X-chromosomal
79 RT adrenoleukodystrophy (ALD).";
80 RL Hum. Mol. Genet. 3:1903-1905(1994).
81 RN [10]
82 RP VARIANTS X-ALD TRP-518; LEU-606; CYS-617 AND HIS-617.
83 RX MEDLINE=94314951; PubMed=8040304;
84 RA Fanen P., Guidoux S., Sarde C.-O., Mandel J.-L., Goossens M.,
85 RA Aubourg P.;
86 RT "Identification of mutations in the putative ATP-binding domain of
87 RT the adrenoleukodystrophy gene.";
88 RL J. Clin. Invest. 94:516-520(1994).
89 RN [11]
90 RP VARIANTS X-ALD.
91 RX MEDLINE=95126139; PubMed=7825602;
92 RA Ligtenberg M.J.L., Kemp S., Sarde C.-O., van Geel B.M., Kleijer W.J.,
93 RA Barth P.G., Mandel J.-L., van Oost B.A., Bolhuis P.A.;
94 RT "Spectrum of mutations in the gene encoding the adrenoleukodystrophy
95 RT protein.";
96 RL Am. J. Hum. Genet. 56:44-50(1995).
97 RN [12]
98 RP VARIANTS X-ALD HIS-104; GLU-178; LEU-560 AND GLY-528 DEL.
99 RX MEDLINE=95233433; PubMed=7717396;
100 RA Braun A., Ambach H., Kammerer S., Rolinski B., Stoeckler S., Rabl W.,
101 RA Gaertner J., Zierz S., Roscher A.A.;
102 RT "Mutations in the gene for X-linked adrenoleukodystrophy in patients
103 RT with different clinical phenotypes.";
104 RL Am. J. Hum. Genet. 56:854-861(1995).
105 RN [13]
106 RP VARIANTS X-ALD.
107 RX MEDLINE=96047143; PubMed=7581394;
108 RA Kok F., Neumann S., Sarde C.-O., Zheng S., Wu K.-H., Wei H.-M.,
109 RA Bergin J., Watkins P.A., Gould S., Sack G., Moser H., Mandel J.-L.,
110 RA Smith K.D.;
111 RT "Mutational analysis of patients with X-linked adrenoleukodystrophy.";
112 RL Hum. Mutat. 6:104-115(1995).
113 RN [14]
114 RP VARIANTS X-ALD.
115 RX MEDLINE=96213748; PubMed=8651290;
116 RA Feigenbaum V., Lombard-Platet G., Guidoux S., Sarde C.-O.,
117 RA Mandel J.-L., Aubourg P.;
118 RT "Mutational and protein analysis of patients and heterozygous women
119 RT with X-linked adrenoleukodystrophy.";
120 RL Am. J. Hum. Genet. 58:1135-1144(1996).
121 RN [15]
122 RP VARIANTS X-ALD.
123 RX MEDLINE=96163493; PubMed=8566952;
124 RA Krasemann E.W., Meier V., Korenke G.C., Hunneman D.H., Hanefeld F.;
125 RT "Identification of mutations in the ALD-gene of 20 families with
126 RT adrenoleukodystrophy/adrenomyeloneuropathy.";
127 RL Hum. Genet. 97:194-197(1996).
128 RN [16]
129 RP VARIANT X-ALD ARG-679.
130 RX MEDLINE=98112466; PubMed=9452087;
131 RA Korenke G.C., Krasemann E., Meier V., Beuche W., Hunneman D.H.,
132 RA Hanefeld F.;
133 RT "First missense mutation (W679R) in exon 10 of the
134 RT adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.";
135 RL Hum. Mutat. Suppl. 1:S204-S206(1998).
136 RN [17]
137 RP VARIANTS X-ALD.
138 RX MEDLINE=99408241; PubMed=10480364;
139 RA Wichers M., Kohler W., Brennemann W., Boese V., Sokolowski P.,
140 RA Bidlingmaier F., Ludwig M.;
141 RT "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene
142 RT mutations: no correlation between type of mutation and age of onset.";
143 RL Hum. Genet. 105:116-119(1999).
144 RN [18]
145 RP VARIANTS X-ALD LEU-108 AND SER-143.
146 RX MEDLINE=99299442; PubMed=10369742;
147 RA Perusi C., Gomez-Lira M., Mottes M., Pignatti P.F., Bertini E.,
148 RA Cappa M., Vigliani M.C., Schiffer D., Rizzuto N., Salviati A.;
149 RT "Two novel missense mutations causing adrenoleukodystrophy in Italian
150 RT patients.";
151 RL Mol. Cell. Probes 13:179-182(1999).
152 RN [19]
153 RP VARIANTS X-ALD.
154 RX MEDLINE=20202141; PubMed=10737980;
155 RA Lachtermacher M.B., Seuanez H.N., Moser A.B., Moser H.W., Smith K.D.;
156 RT "Determination of 30 X-linked adrenoleukodystrophy mutations,
157 RT including 15 not previously described.";
158 RL Hum. Mutat. 15:348-353(2000).
159 RN [20]
160 RP VARIANTS X-ALD GLN-401; TRP-418; LEU-543 AND ARG-556.
161 RX MEDLINE=20438355; PubMed=10980539;
162 RA Lira M.G., Mottes M., Pignatti P.F., Medica I., Uziel G., Cappa M.,
163 RA Bertini E., Rizzuto N., Salviati A.;
164 RT "Detection of mutations in the ALD gene (ABCD1) in seven Italian
165 RT families: description of four novel mutations.";
166 RL Hum. Mutat. 16:271-271(2000).
167 RN [21]
168 RP VARIANTS X-ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND
169 RP PRO-660, AND VARIANT THR-13.
170 RX MEDLINE=21331689; PubMed=11438993;
171 RA Dvorakova L., Storkanova G., Unterrainer G., Hujova J., Kmoch S.,
172 RA Zeman J., Hrebicek M., Berger J.;
173 RT "Eight novel ABCD1 gene mutations and three polymorphisms in patients
174 RT with X-linked adrenoleukodystrophy: the first polymorphism causing an
175 RT amino acid exchange.";
176 RL Hum. Mutat. 18:52-60(2001).
177 RN [22]
178 RP VARIANT X-ALD VAL-GLY-GLN-300 INS.
179 RX MEDLINE=21668186; PubMed=11810273; DOI=10.1007/s00439-001-0632-z;
180 RA Guimaraes C.P., Lemos M., Menezes I., Coelho T., Sa-Miranda C.,
181 RA Azevedo J.E.;
182 RT "Characterisation of two mutations in the ABCD1 gene leading to low
183 RT levels of normal ALDP.";
184 RL Hum. Genet. 109:616-622(2001).
185 RN [23]
186 RP INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME.
187 RX PubMed=11992258;
188 RA Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F.,
189 RA Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D.,
190 RA Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J.;
191 RT "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1)
192 RT and DXS1357E: a novel neonatal phenotype similar to peroxisomal
193 RT biogenesis disorders.";
194 RL Am. J. Hum. Genet. 70:1520-1531(2002).
195 CC -!- FUNCTION: Probable transporter. The nucleotide-binding fold acts
196 CC as an ATP-binding subunit with ATPase activity.
197 CC -!- SUBUNIT: Can form homo- and heterodimers with ABCD2/ALDR and
198 CC ABCD3/PMP70. Dimerization is necessary to form an active
199 CC transporter.
200 CC -!- SUBCELLULAR LOCATION: Integral membrane protein. Peroxisomal.
201 CC -!- DISEASE: Defects in ABCD1 are the cause of recessive X-linked
202 CC adrenoleukodystrophy (X-ALD) [MIM:300100]. X-ALD is a rare
203 CC peroxisomal metabolic disorder that occurs in boys and is
204 CC characterized by progressive multifocal demyelination of the
205 CC central nervous system and by adrenocortical insufficiency. It
206 CC produces mental deterioration, corticospinal tract dysfunction,
207 CC and cortical blindness. There is laboratory evidence of adrenal
208 CC cortical dysfunction. Different clinical manifestations exist
209 CC like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD),
210 CC adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO)
211 CC phenotype.
212 CC -!- DISEASE: Microdeletions in ABCD1 are involved in the contiguous
213 CC ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients
214 CC manifest profound neonatal hypotonia, subsequent failure to
215 CC thrive, and cholestatic liver disease.
216 CC -!- SIMILARITY: Belongs to the ABC transporter family. ALD subfamily.
217 CC -!- DATABASE: NAME=X-ALD gene mutation database;
218 CC WWW="http://www.x-ald.nl/".
219 CC --------------------------------------------------------------------------
220 CC This SWISS-PROT entry is copyright. It is produced through a collaboration
221 CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
222 CC the European Bioinformatics Institute. There are no restrictions on its
223 CC use by non-profit institutions as long as its content is in no way
224 CC modified and this statement is not removed. Usage by and for commercial
225 CC entities requires a license agreement (See http://www.isb-sib.ch/announce/
226 CC or send an email to license@isb-sib.ch).
227 CC --------------------------------------------------------------------------
228 DR EMBL; Z21876; CAA79922.1; -.
229 DR EMBL; Z31348; CAA83230.1; -.
230 DR EMBL; Z31006; CAA83230.1; JOINED.
231 DR EMBL; Z31007; CAA83230.1; JOINED.
232 DR EMBL; Z31008; CAA83230.1; JOINED.
233 DR EMBL; Z31009; CAA83230.1; JOINED.
234 DR EMBL; Z31010; CAA83230.1; JOINED.
235 DR EMBL; U52111; -; NOT_ANNOTATED_CDS.
236 DR PIR; G02500; G02500.
237 DR Genew; HGNC:61; ABCD1.
238 DR MIM; 300371; -.
239 DR MIM; 300100; -.
240 DR MIM; 300475; -.
241 DR GO; GO:0005779; C:integral to peroxisomal membrane; NAS.
242 DR GO; GO:0004009; F:ATP-binding cassette (ABC) transporter acti...; NAS.
243 DR GO; GO:0005215; F:transporter activity; NAS.
244 DR GO; GO:0015919; P:peroxisomal membrane transport; NAS.
245 DR GO; GO:0007031; P:peroxisome organization and biogenesis; NAS.
246 DR InterPro; IPR003593; AAA_ATPase.
247 DR InterPro; IPR003439; ABC_transporter.
248 DR InterPro; IPR005283; FA_transporter.
249 DR Pfam; PF00005; ABC_tran; 1.
250 DR Pfam; PF06472; Ald_N; 1.
251 DR ProDom; PD000006; ABC_transporter; 1.
252 DR TIGRFAMs; TIGR00954; 3a01203; 1.
253 DR PROSITE; PS50929; ABC_TM1F; 1.
254 DR PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
255 DR PROSITE; PS50893; ABC_TRANSPORTER_2; 1.
256 KW ATP-binding; Glycoprotein; Transmembrane; Transport; Peroxisome;
257 KW Disease mutation; Polymorphism.
258 FT TRANSMEM 92 112 Potential.
259 FT TRANSMEM 131 151 Potential.
260 FT TRANSMEM 238 258 Potential.
261 FT TRANSMEM 333 353 Potential.
262 FT TRANSMEM 473 493 Potential.
263 FT NP_BIND 507 514 ATP (By similarity).
264 FT VARIANT 13 13 N -> T (very rare polymorphism; does not
265 FT affect ALDP function).
266 FT /FTId=VAR_013340.
267 FT VARIANT 90 90 E -> K (in X-ALD).
268 FT /FTId=VAR_009349.
269 FT VARIANT 98 98 S -> L (in X-ALD; CALD type).
270 FT /FTId=VAR_000024.
271 FT VARIANT 99 99 A -> D (in X-ALD; AMN-type).
272 FT /FTId=VAR_013341.
273 FT VARIANT 103 103 S -> R (in X-ALD).
274 FT /FTId=VAR_009350.
275 FT VARIANT 104 104 R -> C (in X-ALD).
276 FT /FTId=VAR_000025.
277 FT VARIANT 104 104 R -> H (in X-ALD; ADO-type).
278 FT /FTId=VAR_000026.
279 FT VARIANT 105 105 T -> I (in X-ALD; ADO-type).
280 FT /FTId=VAR_000027.
281 FT VARIANT 105 105 T -> P (in X-ALD).
282 FT /FTId=VAR_009351.
283 FT VARIANT 107 107 L -> P (in X-ALD; ALD/AMN/ADO-types and
284 FT asymptomatic).
285 FT /FTId=VAR_000028.
286 FT VARIANT 108 108 S -> L (in X-ALD).
287 FT /FTId=VAR_009352.
288 FT VARIANT 108 108 S -> W (in X-ALD; CALD and AMN-types).
289 FT /FTId=VAR_000029.
290 FT VARIANT 113 113 R -> C (in X-ALD).
291 FT /FTId=VAR_009353.
292 FT VARIANT 113 113 R -> P (in X-ALD).
293 FT /FTId=VAR_013342.
294 FT VARIANT 116 116 G -> R (in X-ALD; CALD-type).
295 FT /FTId=VAR_000030.
296 FT VARIANT 123 123 A -> V.
297 FT /FTId=VAR_000031.
298 FT VARIANT 138 141 Missing (in X-ALD; ALD-type).
299 FT /FTId=VAR_000032.
300 FT VARIANT 141 141 A -> T (in X-ALD).
301 FT /FTId=VAR_000033.
302 FT VARIANT 143 143 P -> S (in X-ALD).
303 FT /FTId=VAR_009354.
304 FT VARIANT 148 148 N -> S (in X-ALD; ADO-type).
305 FT /FTId=VAR_000034.
306 FT VARIANT 149 149 S -> N (in X-ALD).
307 FT /FTId=VAR_000035.
308 FT VARIANT 152 152 R -> C (in X-ALD; ADO-type).
309 FT /FTId=VAR_000036.
310 FT VARIANT 152 152 R -> L (in X-ALD).
311 FT /FTId=VAR_009355.
312 FT VARIANT 152 152 R -> P (in X-ALD).
313 FT /FTId=VAR_000037.
314 FT VARIANT 152 152 R -> S (in X-ALD).
315 FT /FTId=VAR_009356.
316 FT VARIANT 161 161 S -> P (in X-ALD).
317 FT /FTId=VAR_009357.
318 FT VARIANT 163 163 R -> H (in X-ALD).
319 FT /FTId=VAR_000038.
320 FT VARIANT 163 163 R -> P (in X-ALD).
321 FT /FTId=VAR_009358.
322 FT VARIANT 174 174 Y -> C (in X-ALD).
323 FT /FTId=VAR_009359.
324 FT VARIANT 174 174 Y -> D (in X-ALD; ALD-type).
325 FT /FTId=VAR_000039.
326 FT VARIANT 174 174 Y -> S (in X-ALD; CALD-type).
327 FT /FTId=VAR_000040.
328 FT VARIANT 178 178 Q -> E (in X-ALD; AMN-type).
329 FT /FTId=VAR_000041.
330 FT VARIANT 181 181 Y -> C (in X-ALD; ALMD-type).
331 FT /FTId=VAR_000042.
332 FT VARIANT 182 182 R -> P (in X-ALD).
333 FT /FTId=VAR_000043.
334 FT VARIANT 189 189 R -> W (in X-ALD).
335 FT /FTId=VAR_009360.
336 FT VARIANT 190 190 L -> P (in X-ALD).
337 FT /FTId=VAR_009361.
338 FT VARIANT 194 194 D -> H (in X-ALD).
339 FT /FTId=VAR_000044.
340 FT VARIANT 198 198 T -> K (in X-ALD).
341 FT /FTId=VAR_009362.
342 FT VARIANT 200 200 D -> N (in X-ALD).
343 FT /FTId=VAR_009363.
344 FT VARIANT 200 200 D -> V (in X-ALD; CALD-type).
345 FT /FTId=VAR_000045.
346 FT VARIANT 207 207 S -> SAAS (in X-ALD).
347 FT /FTId=VAR_013343.
348 FT VARIANT 211 211 L -> P (in X-ALD).
349 FT /FTId=VAR_000046.
350 FT VARIANT 213 213 S -> C (in X-ALD).
351 FT /FTId=VAR_009364.
352 FT VARIANT 214 214 N -> D (in X-ALD).
353 FT /FTId=VAR_009365.
354 FT VARIANT 217 217 K -> E (in X-ALD).
355 FT /FTId=VAR_013344.
356 FT VARIANT 218 218 P -> T (in X-ALD).
357 FT /FTId=VAR_009366.
358 FT VARIANT 220 220 L -> P (in X-ALD).
359 FT /FTId=VAR_000047.
360 FT VARIANT 221 221 D -> G (in X-ALD; CALD and AMN-types).
361 FT /FTId=VAR_000048.
362 FT VARIANT 224 224 V -> E (in X-ALD).
363 FT /FTId=VAR_013345.
364 FT VARIANT 229 229 L -> P (in X-ALD).
365 FT /FTId=VAR_009367.
366 FT VARIANT 254 254 T -> M (in X-ALD; AMN-type).
367 FT /FTId=VAR_000049.
368 FT VARIANT 254 254 T -> P (in X-ALD; AMN-type).
369 FT /FTId=VAR_000050.
370 FT VARIANT 263 263 P -> L (in X-ALD; CALD, AMN and AD-
371 FT typeS).
372 FT /FTId=VAR_000051.
373 FT VARIANT 266 266 G -> R (in X-ALD).
374 FT /FTId=VAR_000052.
375 FT VARIANT 271 271 E -> K (in X-ALD).
376 FT /FTId=VAR_009368.
377 FT VARIANT 274 274 R -> W (in X-ALD).
378 FT /FTId=VAR_013346.
379 FT VARIANT 276 276 K -> E (in X-ALD; CALD-type).
380 FT /FTId=VAR_000053.
381 FT VARIANT 277 277 G -> R (in X-ALD; AMN-type).
382 FT /FTId=VAR_000054.
383 FT VARIANT 277 277 G -> GN (in X-ALD; ADO-type).
384 FT /FTId=VAR_000055.
385 FT VARIANT 277 277 G -> W (in X-ALD).
386 FT /FTId=VAR_000056.
387 FT VARIANT 280 280 R -> C (in X-ALD).
388 FT /FTId=VAR_013347.
389 FT VARIANT 285 285 R -> P (in X-ALD).
390 FT /FTId=VAR_009369.
391 FT VARIANT 291 291 E -> D (in X-ALD; ACALD and CALD-types).
392 FT /FTId=VAR_000057.
393 FT VARIANT 291 291 E -> K (in X-ALD).
394 FT /FTId=VAR_000058.
395 FT VARIANT 291 291 Missing (in X-ALD; ALD-type).
396 FT /FTId=VAR_000059.
397 FT VARIANT 294 294 A -> T (in X-ALD; AMN-type).
398 FT /FTId=VAR_000060.
399 FT VARIANT 296 296 Y -> C (in X-ALD).
400 FT /FTId=VAR_009370.
401 FT VARIANT 298 298 G -> D (in X-ALD).
402 FT /FTId=VAR_009371.
403 FT VARIANT 300 300 E -> EVGQ (in X-ALD).
404 FT /FTId=VAR_013348.
405 FT VARIANT 302 302 E -> K (in X-ALD).
406 FT /FTId=VAR_009372.
407 FT VARIANT 322 322 L -> P (in X-ALD).
408 FT /FTId=VAR_009373.
409 FT VARIANT 336 336 K -> M (in X-ALD).
410 FT /FTId=VAR_009374.
411 FT VARIANT 339 339 W -> R (in X-ALD).
412 FT /FTId=VAR_013349.
413 FT VARIANT 342 342 S -> P (in X-ALD; AMN-type).
414 FT /FTId=VAR_000061.
415 FT VARIANT 343 343 G -> D (in X-ALD).
416 FT /FTId=VAR_013350.
417 FT VARIANT 389 389 R -> G (in X-ALD; AMN-type).
418 FT /FTId=VAR_000062.
419 FT VARIANT 389 389 R -> H (in X-ALD; does not affect protein
420 FT stability, homo- and heterodimerization
421 FT with ALDR and PMP70).
422 FT /FTId=VAR_000063.
423 FT VARIANT 401 401 R -> Q (in X-ALD; ALD and AMN-types; does
424 FT not affect protein stability, homo- and
425 FT heterodimerization with ALDR and PMP70).
426 FT /FTId=VAR_000064.
427 FT VARIANT 401 401 R -> W (in X-ALD).
428 FT /FTId=VAR_009375.
429 FT VARIANT 418 418 R -> W (in X-ALD; AMN-type).
430 FT /FTId=VAR_000065.
431 FT VARIANT 427 427 Missing (in X-ALD).
432 FT /FTId=VAR_013351.
433 FT VARIANT 484 484 P -> R (in X-ALD; CALD, AMN and ADO-
434 FT types; significantly decreases
435 FT homodimerization and abolishes
436 FT heterodimerization with ALDR and PMP70).
437 FT /FTId=VAR_000066.
438 FT VARIANT 507 507 G -> V (in X-ALD; CALD-types).
439 FT /FTId=VAR_000067.
440 FT VARIANT 512 512 G -> S (in X-ALD; CALD and AS-types;
441 FT reduced ATPase activity).
442 FT /FTId=VAR_000068.
443 FT VARIANT 515 515 S -> F (in X-ALD).
444 FT /FTId=VAR_000069.
445 FT VARIANT 518 518 R -> Q (in X-ALD; CALD-type).
446 FT /FTId=VAR_000070.
447 FT VARIANT 518 518 R -> W (in X-ALD; CALD-type).
448 FT /FTId=VAR_000071.
449 FT VARIANT 522 522 G -> W (in X-ALD; AD-type).
450 FT /FTId=VAR_000072.
451 FT VARIANT 528 528 Missing (in X-ALD; CALD-type).
452 FT /FTId=VAR_000073.
453 FT VARIANT 529 529 G -> S (in X-ALD).
454 FT /FTId=VAR_009376.
455 FT VARIANT 534 534 P -> L (in X-ALD; CALD-type).
456 FT /FTId=VAR_000074.
457 FT VARIANT 540 540 F -> S (in X-ALD).
458 FT /FTId=VAR_009377.
459 FT VARIANT 543 543 P -> L (in X-ALD).
460 FT /FTId=VAR_009378.
461 FT VARIANT 544 544 Q -> R (in X-ALD).
462 FT /FTId=VAR_009379.
463 FT VARIANT 552 552 S -> P (in X-ALD).
464 FT /FTId=VAR_009380.
465 FT VARIANT 554 554 R -> H (in X-ALD).
466 FT /FTId=VAR_009381.
467 FT VARIANT 556 556 Q -> R (in X-ALD; ACALD type).
468 FT /FTId=VAR_013352.
469 FT VARIANT 560 560 P -> L (in X-ALD; CALD-type).
470 FT /FTId=VAR_000075.
471 FT VARIANT 560 560 P -> R (in X-ALD; AMN and ALMD-types).
472 FT /FTId=VAR_000076.
473 FT VARIANT 560 560 P -> S (in X-ALD).
474 FT /FTId=VAR_013353.
475 FT VARIANT 566 566 M -> K (in X-ALD).
476 FT /FTId=VAR_000077.
477 FT VARIANT 591 591 R -> P (in X-ALD).
478 FT /FTId=VAR_013354.
479 FT VARIANT 591 591 R -> Q (in X-ALD; AMN-type; significantly
480 FT decreases homodimerization and abolishes
481 FT heterodimerization with ALDR and PMP70).
482 FT /FTId=VAR_000078.
483 FT VARIANT 591 591 R -> W (in X-ALD).
484 FT /FTId=VAR_009382.
485 FT VARIANT 606 606 S -> L (in X-ALD; decreased ATP-binding
486 FT affinity).
487 FT /FTId=VAR_000079.
488 FT VARIANT 606 606 S -> P (in X-ALD; CALD, AMN and ALMD-
489 FT types).
490 FT /FTId=VAR_000080.
491 FT VARIANT 608 608 G -> D (in X-ALD; CALD-type).
492 FT /FTId=VAR_013355.
493 FT VARIANT 609 609 E -> G (in X-ALD).
494 FT /FTId=VAR_000081.
495 FT VARIANT 609 609 E -> K (in X-ALD; AMN-type).
496 FT /FTId=VAR_000082.
497 FT VARIANT 616 616 A -> V (in X-ALD).
498 FT /FTId=VAR_009383.
499 FT VARIANT 617 617 R -> C (in X-ALD; ALD-type and
500 FT asymptomatic).
501 FT /FTId=VAR_000083.
502 FT VARIANT 617 617 R -> G (in X-ALD; ADO and AMN-types with
503 FT cerebral involvement).
504 FT /FTId=VAR_000084.
505 FT VARIANT 617 617 R -> H (in X-ALD).
506 FT /FTId=VAR_000085.
507 FT VARIANT 626 626 A -> D (in X-ALD).
508 FT /FTId=VAR_013356.
509 FT VARIANT 626 626 A -> T (in X-ALD; CALD and AMN-types).
510 FT /FTId=VAR_000086.
511 FT VARIANT 629 629 D -> H (in X-ALD).
512 FT /FTId=VAR_000087.
513 FT VARIANT 630 630 E -> G (in X-ALD).
514 FT /FTId=VAR_009384.
515 FT VARIANT 631 631 C -> Y (in X-ALD).
516 FT /FTId=VAR_009385.
517 FT VARIANT 632 632 T -> I (in X-ALD).
518 FT /FTId=VAR_013357.
519 FT VARIANT 633 633 S -> I (in X-ALD; asymptomatic).
520 FT /FTId=VAR_013358.
521 FT VARIANT 633 633 S -> R (in X-ALD).
522 FT /FTId=VAR_009386.
523 FT VARIANT 635 635 V -> M (in X-ALD).
524 FT /FTId=VAR_013359.
525 FT VARIANT 636 636 S -> I (in X-ALD).
526 FT /FTId=VAR_009387.
527 FT VARIANT 638 638 D -> Y (in X-ALD).
528 FT /FTId=VAR_009388.
529 FT VARIANT 646 646 A -> P (in X-ALD).
530 FT /FTId=VAR_009389.
531 FT VARIANT 654 654 L -> P (in X-ALD).
532 FT /FTId=VAR_009390.
533 FT VARIANT 657 657 Missing (in X-ALD; CALD-type).
534 FT /FTId=VAR_000088.
535 FT VARIANT 660 660 R -> P (in X-ALD; CALD-type).
536 FT /FTId=VAR_013360.
537 FT VARIANT 660 660 R -> W (in X-ALD; CALD, ALMD and AS-
538 FT types).
539 FT /FTId=VAR_000089.
540 FT VARIANT 667 667 H -> D (in X-ALD).
541 FT /FTId=VAR_009391.
542 FT VARIANT 668 668 T -> I (in X-ALD).
543 FT /FTId=VAR_009392.
544 FT VARIANT 679 679 W -> R (in X-ALD; AMN-type).
545 FT /FTId=VAR_000090.
546 FT VARIANT 693 693 T -> M (in X-ALD).
547 FT /FTId=VAR_009393.
548 SQ SEQUENCE 745 AA; 82908 MW; 13A8EFDE9EB1E7FA CRC64;
549 MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
550 AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
551 CIARKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
552 YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
553 AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
554 VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
555 DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
556 EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
557 IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
558 YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
559 WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
560 PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
561 GEAVAPAHVP APSPQGPGGL QGAST
562 //