ID   ALD_HUMAN      STANDARD;      PRT;   745 AA.
AC   P33897;
DT   01-FEB-1994 (Rel. 28, Created)
DT   01-FEB-1994 (Rel. 28, Last sequence update)
DT   15-JUN-2004 (Rel. 44, Last annotation update)
DE   Adrenoleukodystrophy protein (ALDP).
GN   ABCD1 OR ALD.
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   SEQUENCE FROM N.A.
RX   MEDLINE=93180910; PubMed=8441467;
RA   Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H.,
RA   Poustka A.-M., Mandel J.-L., Aubourg P.;
RT   "Putative X-linked adrenoleukodystrophy gene shares unexpected
RT   homology with ABC transporters.";
RL   Nature 361:726-730(1993).
RN   [2]
RP   SEQUENCE FROM N.A.
RA   Platzer M., Bauer D., Brenner V., Drescher B., Nyakatura G.,
RA   Reichwald K., Sandoval N., Coy J., Kioschis P., Korn B.,
RA   Poustka A.-M., Rosenthal A.;
RL   Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   SUBUNITS, AND CHARACTERIZATION OF VARIANTS X-ALD HIS-389; GLN-401;
RP   ARG-484 AND GLN-591.
RX   MEDLINE=20020240; PubMed=10551832;
RA   Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R.,
RA   Aubourg P.;
RT   "Homo- and heterodimerization of peroxisomal ATP-binding cassette
RT   half-transporters.";
RL   J. Biol. Chem. 274:32738-32743(1999).
RN   [4]
RP   FUNCTION, AND CHARACTERIZATION OF VARIANTS X-ALD SER-512 AND LEU-606.
RX   MEDLINE=21145507; PubMed=11248239;
RA   Roerig P., Mayerhofer P., Holzinger A., Gaertner J.;
RT   "Characterization and functional analysis of the nucleotide binding
RT   fold in human peroxisomal ATP binding cassette transporters.";
RL   FEBS Lett. 492:66-72(2001).
RN   [5]
RP   REVIEW.
RX   MEDLINE=93283453; PubMed=8507690;
RA   Aubourg P., Mosser J., Douar A.-M., Sarde C.-O., Lopez J.,
RA   Mandel J.-L.;
RT   "Adrenoleukodystrophy gene: unexpected homology to a protein involved
RT   in peroxisome biogenesis.";
RL   Biochimie 75:293-302(1993).
RN   [6]
RP   REVIEW ON VARIANTS.
RX   MEDLINE=97338663; PubMed=9195223;
RA   Dodd A., Rowland S.A., Hawkes S.L.J., Kennedy M.A., Love D.R.;
RT   "Mutations in the adrenoleukodystrophy gene.";
RL   Hum. Mutat. 9:500-511(1997).
RN   [7]
RP   REVIEW ON VARIANTS.
RX   MEDLINE=21614879; PubMed=11748843;
RA   Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D.,
RA   Raymond G.V., Cutting G.R., Wanders R.J.A., Moser H.W.;
RT   "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation
RT   database: role in diagnosis and clinical correlations.";
RL   Hum. Mutat. 18:499-515(2001).
RN   [8]
RP   VARIANT X-ALD LYS-291.
RX   MEDLINE=94108454; PubMed=7904210;
RA   Cartier N., Sarde C.-O., Douar A.-M., Mosser J., Mandel J.-L.,
RA   Aubourg P.;
RT   "Abnormal messenger RNA expression and a missense mutation in
RT   patients with X-linked adrenoleukodystrophy.";
RL   Hum. Mol. Genet. 2:1949-1951(1993).
RN   [9]
RP   VARIANTS X-ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND
RP   PHE-515.
RX   MEDLINE=95152524; PubMed=7849723;
RA   Fuchs S., Sarde C.-O., Wedemann H., Schwinger E., Mandel J.-L.,
RA   Gal A.;
RT   "Missense mutations are frequent in the gene for X-chromosomal
RT   adrenoleukodystrophy (ALD).";
RL   Hum. Mol. Genet. 3:1903-1905(1994).
RN   [10]
RP   VARIANTS X-ALD TRP-518; LEU-606; CYS-617 AND HIS-617.
RX   MEDLINE=94314951; PubMed=8040304;
RA   Fanen P., Guidoux S., Sarde C.-O., Mandel J.-L., Goossens M.,
RA   Aubourg P.;
RT   "Identification of mutations in the putative ATP-binding domain of
RT   the adrenoleukodystrophy gene.";
RL   J. Clin. Invest. 94:516-520(1994).
RN   [11]
RP   VARIANTS X-ALD.
RX   MEDLINE=95126139; PubMed=7825602;
RA   Ligtenberg M.J.L., Kemp S., Sarde C.-O., van Geel B.M., Kleijer W.J.,
RA   Barth P.G., Mandel J.-L., van Oost B.A., Bolhuis P.A.;
RT   "Spectrum of mutations in the gene encoding the adrenoleukodystrophy
RT   protein.";
RL   Am. J. Hum. Genet. 56:44-50(1995).
RN   [12]
RP   VARIANTS X-ALD HIS-104; GLU-178; LEU-560 AND GLY-528 DEL.
RX   MEDLINE=95233433; PubMed=7717396;
RA   Braun A., Ambach H., Kammerer S., Rolinski B., Stoeckler S., Rabl W.,
RA   Gaertner J., Zierz S., Roscher A.A.;
RT   "Mutations in the gene for X-linked adrenoleukodystrophy in patients
RT   with different clinical phenotypes.";
RL   Am. J. Hum. Genet. 56:854-861(1995).
RN   [13]
RP   VARIANTS X-ALD.
RX   MEDLINE=96047143; PubMed=7581394;
RA   Kok F., Neumann S., Sarde C.-O., Zheng S., Wu K.-H., Wei H.-M.,
RA   Bergin J., Watkins P.A., Gould S., Sack G., Moser H., Mandel J.-L.,
RA   Smith K.D.;
RT   "Mutational analysis of patients with X-linked adrenoleukodystrophy.";
RL   Hum. Mutat. 6:104-115(1995).
RN   [14]
RP   VARIANTS X-ALD.
RX   MEDLINE=96213748; PubMed=8651290;
RA   Feigenbaum V., Lombard-Platet G., Guidoux S., Sarde C.-O.,
RA   Mandel J.-L., Aubourg P.;
RT   "Mutational and protein analysis of patients and heterozygous women
RT   with X-linked adrenoleukodystrophy.";
RL   Am. J. Hum. Genet. 58:1135-1144(1996).
RN   [15]
RP   VARIANTS X-ALD.
RX   MEDLINE=96163493; PubMed=8566952;
RA   Krasemann E.W., Meier V., Korenke G.C., Hunneman D.H., Hanefeld F.;
RT   "Identification of mutations in the ALD-gene of 20 families with
RT   adrenoleukodystrophy/adrenomyeloneuropathy.";
RL   Hum. Genet. 97:194-197(1996).
RN   [16]
RP   VARIANT X-ALD ARG-679.
RX   MEDLINE=98112466; PubMed=9452087;
RA   Korenke G.C., Krasemann E., Meier V., Beuche W., Hunneman D.H.,
RA   Hanefeld F.;
RT   "First missense mutation (W679R) in exon 10 of the
RT   adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.";
RL   Hum. Mutat. Suppl. 1:S204-S206(1998).
RN   [17]
RP   VARIANTS X-ALD.
RX   MEDLINE=99408241; PubMed=10480364;
RA   Wichers M., Kohler W., Brennemann W., Boese V., Sokolowski P.,
RA   Bidlingmaier F., Ludwig M.;
RT   "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene
RT   mutations: no correlation between type of mutation and age of onset.";
RL   Hum. Genet. 105:116-119(1999).
RN   [18]
RP   VARIANTS X-ALD LEU-108 AND SER-143.
RX   MEDLINE=99299442; PubMed=10369742;
RA   Perusi C., Gomez-Lira M., Mottes M., Pignatti P.F., Bertini E.,
RA   Cappa M., Vigliani M.C., Schiffer D., Rizzuto N., Salviati A.;
RT   "Two novel missense mutations causing adrenoleukodystrophy in Italian
RT   patients.";
RL   Mol. Cell. Probes 13:179-182(1999).
RN   [19]
RP   VARIANTS X-ALD.
RX   MEDLINE=20202141; PubMed=10737980;
RA   Lachtermacher M.B., Seuanez H.N., Moser A.B., Moser H.W., Smith K.D.;
RT   "Determination of 30 X-linked adrenoleukodystrophy mutations,
RT   including 15 not previously described.";
RL   Hum. Mutat. 15:348-353(2000).
RN   [20]
RP   VARIANTS X-ALD GLN-401; TRP-418; LEU-543 AND ARG-556.
RX   MEDLINE=20438355; PubMed=10980539;
RA   Lira M.G., Mottes M., Pignatti P.F., Medica I., Uziel G., Cappa M.,
RA   Bertini E., Rizzuto N., Salviati A.;
RT   "Detection of mutations in the ALD gene (ABCD1) in seven Italian
RT   families: description of four novel mutations.";
RL   Hum. Mutat. 16:271-271(2000).
RN   [21]
RP   VARIANTS X-ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND
RP   PRO-660, AND VARIANT THR-13.
RX   MEDLINE=21331689; PubMed=11438993;
RA   Dvorakova L., Storkanova G., Unterrainer G., Hujova J., Kmoch S.,
RA   Zeman J., Hrebicek M., Berger J.;
RT   "Eight novel ABCD1 gene mutations and three polymorphisms in patients
RT   with X-linked adrenoleukodystrophy: the first polymorphism causing an
RT   amino acid exchange.";
RL   Hum. Mutat. 18:52-60(2001).
RN   [22]
RP   VARIANT X-ALD VAL-GLY-GLN-300 INS.
RX   MEDLINE=21668186; PubMed=11810273; DOI=10.1007/s00439-001-0632-z;
RA   Guimaraes C.P., Lemos M., Menezes I., Coelho T., Sa-Miranda C.,
RA   Azevedo J.E.;
RT   "Characterisation of two mutations in the ABCD1 gene leading to low
RT   levels of normal ALDP.";
RL   Hum. Genet. 109:616-622(2001).
RN   [23]
RP   INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME.
RX   PubMed=11992258;
RA   Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F.,
RA   Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D.,
RA   Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J.;
RT   "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1)
RT   and DXS1357E: a novel neonatal phenotype similar to peroxisomal
RT   biogenesis disorders.";
RL   Am. J. Hum. Genet. 70:1520-1531(2002).
CC   -!- FUNCTION: Probable transporter. The nucleotide-binding fold acts
CC       as an ATP-binding subunit with ATPase activity.
CC   -!- SUBUNIT: Can form homo- and heterodimers with ABCD2/ALDR and
CC       ABCD3/PMP70. Dimerization is necessary to form an active
CC       transporter.
CC   -!- SUBCELLULAR LOCATION: Integral membrane protein. Peroxisomal.
CC   -!- DISEASE: Defects in ABCD1 are the cause of recessive X-linked
CC       adrenoleukodystrophy (X-ALD) [MIM:300100]. X-ALD is a rare
CC       peroxisomal metabolic disorder that occurs in boys and is
CC       characterized by progressive multifocal demyelination of the
CC       central nervous system and by adrenocortical insufficiency. It
CC       produces mental deterioration, corticospinal tract dysfunction,
CC       and cortical blindness. There is laboratory evidence of adrenal
CC       cortical dysfunction. Different clinical manifestations exist
CC       like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD),
CC       adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO)
CC       phenotype.
CC   -!- DISEASE: Microdeletions in ABCD1 are involved in the contiguous
CC       ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients
CC       manifest profound neonatal hypotonia, subsequent failure to
CC       thrive, and cholestatic liver disease.
CC   -!- SIMILARITY: Belongs to the ABC transporter family. ALD subfamily.
CC   -!- DATABASE: NAME=X-ALD gene mutation database;
CC       WWW="http://www.x-ald.nl/".
CC   --------------------------------------------------------------------------
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DR   EMBL; Z21876; CAA79922.1; -.
DR   EMBL; Z31348; CAA83230.1; -.
DR   EMBL; Z31006; CAA83230.1; JOINED.
DR   EMBL; Z31007; CAA83230.1; JOINED.
DR   EMBL; Z31008; CAA83230.1; JOINED.
DR   EMBL; Z31009; CAA83230.1; JOINED.
DR   EMBL; Z31010; CAA83230.1; JOINED.
DR   EMBL; U52111; -; NOT_ANNOTATED_CDS.
DR   PIR; G02500; G02500.
DR   Genew; HGNC:61; ABCD1.
DR   MIM; 300371; -.
DR   MIM; 300100; -.
DR   MIM; 300475; -.
DR   GO; GO:0005779; C:integral to peroxisomal membrane; NAS.
DR   GO; GO:0004009; F:ATP-binding cassette (ABC) transporter acti...; NAS.
DR   GO; GO:0005215; F:transporter activity; NAS.
DR   GO; GO:0015919; P:peroxisomal membrane transport; NAS.
DR   GO; GO:0007031; P:peroxisome organization and biogenesis; NAS.
DR   InterPro; IPR003593; AAA_ATPase.
DR   InterPro; IPR003439; ABC_transporter.
DR   InterPro; IPR005283; FA_transporter.
DR   Pfam; PF00005; ABC_tran; 1.
DR   Pfam; PF06472; Ald_N; 1.
DR   ProDom; PD000006; ABC_transporter; 1.
DR   TIGRFAMs; TIGR00954; 3a01203; 1.
DR   PROSITE; PS50929; ABC_TM1F; 1.
DR   PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
DR   PROSITE; PS50893; ABC_TRANSPORTER_2; 1.
KW   ATP-binding; Glycoprotein; Transmembrane; Transport; Peroxisome;
KW   Disease mutation; Polymorphism.
FT   TRANSMEM     92    112       Potential.
FT   TRANSMEM    131    151       Potential.
FT   TRANSMEM    238    258       Potential.
FT   TRANSMEM    333    353       Potential.
FT   TRANSMEM    473    493       Potential.
FT   NP_BIND     507    514       ATP (By similarity).
FT   VARIANT      13     13       N -> T (very rare polymorphism; does not
FT                                affect ALDP function).
FT                                /FTId=VAR_013340.
FT   VARIANT      90     90       E -> K (in X-ALD).
FT                                /FTId=VAR_009349.
FT   VARIANT      98     98       S -> L (in X-ALD; CALD type).
FT                                /FTId=VAR_000024.
FT   VARIANT      99     99       A -> D (in X-ALD; AMN-type).
FT                                /FTId=VAR_013341.
FT   VARIANT     103    103       S -> R (in X-ALD).
FT                                /FTId=VAR_009350.
FT   VARIANT     104    104       R -> C (in X-ALD).
FT                                /FTId=VAR_000025.
FT   VARIANT     104    104       R -> H (in X-ALD; ADO-type).
FT                                /FTId=VAR_000026.
FT   VARIANT     105    105       T -> I (in X-ALD; ADO-type).
FT                                /FTId=VAR_000027.
FT   VARIANT     105    105       T -> P (in X-ALD).
FT                                /FTId=VAR_009351.
FT   VARIANT     107    107       L -> P (in X-ALD; ALD/AMN/ADO-types and
FT                                asymptomatic).
FT                                /FTId=VAR_000028.
FT   VARIANT     108    108       S -> L (in X-ALD).
FT                                /FTId=VAR_009352.
FT   VARIANT     108    108       S -> W (in X-ALD; CALD and AMN-types).
FT                                /FTId=VAR_000029.
FT   VARIANT     113    113       R -> C (in X-ALD).
FT                                /FTId=VAR_009353.
FT   VARIANT     113    113       R -> P (in X-ALD).
FT                                /FTId=VAR_013342.
FT   VARIANT     116    116       G -> R (in X-ALD; CALD-type).
FT                                /FTId=VAR_000030.
FT   VARIANT     123    123       A -> V.
FT                                /FTId=VAR_000031.
FT   VARIANT     138    141       Missing (in X-ALD; ALD-type).
FT                                /FTId=VAR_000032.
FT   VARIANT     141    141       A -> T (in X-ALD).
FT                                /FTId=VAR_000033.
FT   VARIANT     143    143       P -> S (in X-ALD).
FT                                /FTId=VAR_009354.
FT   VARIANT     148    148       N -> S (in X-ALD; ADO-type).
FT                                /FTId=VAR_000034.
FT   VARIANT     149    149       S -> N (in X-ALD).
FT                                /FTId=VAR_000035.
FT   VARIANT     152    152       R -> C (in X-ALD; ADO-type).
FT                                /FTId=VAR_000036.
FT   VARIANT     152    152       R -> L (in X-ALD).
FT                                /FTId=VAR_009355.
FT   VARIANT     152    152       R -> P (in X-ALD).
FT                                /FTId=VAR_000037.
FT   VARIANT     152    152       R -> S (in X-ALD).
FT                                /FTId=VAR_009356.
FT   VARIANT     161    161       S -> P (in X-ALD).
FT                                /FTId=VAR_009357.
FT   VARIANT     163    163       R -> H (in X-ALD).
FT                                /FTId=VAR_000038.
FT   VARIANT     163    163       R -> P (in X-ALD).
FT                                /FTId=VAR_009358.
FT   VARIANT     174    174       Y -> C (in X-ALD).
FT                                /FTId=VAR_009359.
FT   VARIANT     174    174       Y -> D (in X-ALD; ALD-type).
FT                                /FTId=VAR_000039.
FT   VARIANT     174    174       Y -> S (in X-ALD; CALD-type).
FT                                /FTId=VAR_000040.
FT   VARIANT     178    178       Q -> E (in X-ALD; AMN-type).
FT                                /FTId=VAR_000041.
FT   VARIANT     181    181       Y -> C (in X-ALD; ALMD-type).
FT                                /FTId=VAR_000042.
FT   VARIANT     182    182       R -> P (in X-ALD).
FT                                /FTId=VAR_000043.
FT   VARIANT     189    189       R -> W (in X-ALD).
FT                                /FTId=VAR_009360.
FT   VARIANT     190    190       L -> P (in X-ALD).
FT                                /FTId=VAR_009361.
FT   VARIANT     194    194       D -> H (in X-ALD).
FT                                /FTId=VAR_000044.
FT   VARIANT     198    198       T -> K (in X-ALD).
FT                                /FTId=VAR_009362.
FT   VARIANT     200    200       D -> N (in X-ALD).
FT                                /FTId=VAR_009363.
FT   VARIANT     200    200       D -> V (in X-ALD; CALD-type).
FT                                /FTId=VAR_000045.
FT   VARIANT     207    207       S -> SAAS (in X-ALD).
FT                                /FTId=VAR_013343.
FT   VARIANT     211    211       L -> P (in X-ALD).
FT                                /FTId=VAR_000046.
FT   VARIANT     213    213       S -> C (in X-ALD).
FT                                /FTId=VAR_009364.
FT   VARIANT     214    214       N -> D (in X-ALD).
FT                                /FTId=VAR_009365.
FT   VARIANT     217    217       K -> E (in X-ALD).
FT                                /FTId=VAR_013344.
FT   VARIANT     218    218       P -> T (in X-ALD).
FT                                /FTId=VAR_009366.
FT   VARIANT     220    220       L -> P (in X-ALD).
FT                                /FTId=VAR_000047.
FT   VARIANT     221    221       D -> G (in X-ALD; CALD and AMN-types).
FT                                /FTId=VAR_000048.
FT   VARIANT     224    224       V -> E (in X-ALD).
FT                                /FTId=VAR_013345.
FT   VARIANT     229    229       L -> P (in X-ALD).
FT                                /FTId=VAR_009367.
FT   VARIANT     254    254       T -> M (in X-ALD; AMN-type).
FT                                /FTId=VAR_000049.
FT   VARIANT     254    254       T -> P (in X-ALD; AMN-type).
FT                                /FTId=VAR_000050.
FT   VARIANT     263    263       P -> L (in X-ALD; CALD, AMN and AD-
FT                                typeS).
FT                                /FTId=VAR_000051.
FT   VARIANT     266    266       G -> R (in X-ALD).
FT                                /FTId=VAR_000052.
FT   VARIANT     271    271       E -> K (in X-ALD).
FT                                /FTId=VAR_009368.
FT   VARIANT     274    274       R -> W (in X-ALD).
FT                                /FTId=VAR_013346.
FT   VARIANT     276    276       K -> E (in X-ALD; CALD-type).
FT                                /FTId=VAR_000053.
FT   VARIANT     277    277       G -> R (in X-ALD; AMN-type).
FT                                /FTId=VAR_000054.
FT   VARIANT     277    277       G -> GN (in X-ALD; ADO-type).
FT                                /FTId=VAR_000055.
FT   VARIANT     277    277       G -> W (in X-ALD).
FT                                /FTId=VAR_000056.
FT   VARIANT     280    280       R -> C (in X-ALD).
FT                                /FTId=VAR_013347.
FT   VARIANT     285    285       R -> P (in X-ALD).
FT                                /FTId=VAR_009369.
FT   VARIANT     291    291       E -> D (in X-ALD; ACALD and CALD-types).
FT                                /FTId=VAR_000057.
FT   VARIANT     291    291       E -> K (in X-ALD).
FT                                /FTId=VAR_000058.
FT   VARIANT     291    291       Missing (in X-ALD; ALD-type).
FT                                /FTId=VAR_000059.
FT   VARIANT     294    294       A -> T (in X-ALD; AMN-type).
FT                                /FTId=VAR_000060.
FT   VARIANT     296    296       Y -> C (in X-ALD).
FT                                /FTId=VAR_009370.
FT   VARIANT     298    298       G -> D (in X-ALD).
FT                                /FTId=VAR_009371.
FT   VARIANT     300    300       E -> EVGQ (in X-ALD).
FT                                /FTId=VAR_013348.
FT   VARIANT     302    302       E -> K (in X-ALD).
FT                                /FTId=VAR_009372.
FT   VARIANT     322    322       L -> P (in X-ALD).
FT                                /FTId=VAR_009373.
FT   VARIANT     336    336       K -> M (in X-ALD).
FT                                /FTId=VAR_009374.
FT   VARIANT     339    339       W -> R (in X-ALD).
FT                                /FTId=VAR_013349.
FT   VARIANT     342    342       S -> P (in X-ALD; AMN-type).
FT                                /FTId=VAR_000061.
FT   VARIANT     343    343       G -> D (in X-ALD).
FT                                /FTId=VAR_013350.
FT   VARIANT     389    389       R -> G (in X-ALD; AMN-type).
FT                                /FTId=VAR_000062.
FT   VARIANT     389    389       R -> H (in X-ALD; does not affect protein
FT                                stability, homo- and heterodimerization
FT                                with ALDR and PMP70).
FT                                /FTId=VAR_000063.
FT   VARIANT     401    401       R -> Q (in X-ALD; ALD and AMN-types; does
FT                                not affect protein stability, homo- and
FT                                heterodimerization with ALDR and PMP70).
FT                                /FTId=VAR_000064.
FT   VARIANT     401    401       R -> W (in X-ALD).
FT                                /FTId=VAR_009375.
FT   VARIANT     418    418       R -> W (in X-ALD; AMN-type).
FT                                /FTId=VAR_000065.
FT   VARIANT     427    427       Missing (in X-ALD).
FT                                /FTId=VAR_013351.
FT   VARIANT     484    484       P -> R (in X-ALD; CALD, AMN and ADO-
FT                                types; significantly decreases
FT                                homodimerization and abolishes
FT                                heterodimerization with ALDR and PMP70).
FT                                /FTId=VAR_000066.
FT   VARIANT     507    507       G -> V (in X-ALD; CALD-types).
FT                                /FTId=VAR_000067.
FT   VARIANT     512    512       G -> S (in X-ALD; CALD and AS-types;
FT                                reduced ATPase activity).
FT                                /FTId=VAR_000068.
FT   VARIANT     515    515       S -> F (in X-ALD).
FT                                /FTId=VAR_000069.
FT   VARIANT     518    518       R -> Q (in X-ALD; CALD-type).
FT                                /FTId=VAR_000070.
FT   VARIANT     518    518       R -> W (in X-ALD; CALD-type).
FT                                /FTId=VAR_000071.
FT   VARIANT     522    522       G -> W (in X-ALD; AD-type).
FT                                /FTId=VAR_000072.
FT   VARIANT     528    528       Missing (in X-ALD; CALD-type).
FT                                /FTId=VAR_000073.
FT   VARIANT     529    529       G -> S (in X-ALD).
FT                                /FTId=VAR_009376.
FT   VARIANT     534    534       P -> L (in X-ALD; CALD-type).
FT                                /FTId=VAR_000074.
FT   VARIANT     540    540       F -> S (in X-ALD).
FT                                /FTId=VAR_009377.
FT   VARIANT     543    543       P -> L (in X-ALD).
FT                                /FTId=VAR_009378.
FT   VARIANT     544    544       Q -> R (in X-ALD).
FT                                /FTId=VAR_009379.
FT   VARIANT     552    552       S -> P (in X-ALD).
FT                                /FTId=VAR_009380.
FT   VARIANT     554    554       R -> H (in X-ALD).
FT                                /FTId=VAR_009381.
FT   VARIANT     556    556       Q -> R (in X-ALD; ACALD type).
FT                                /FTId=VAR_013352.
FT   VARIANT     560    560       P -> L (in X-ALD; CALD-type).
FT                                /FTId=VAR_000075.
FT   VARIANT     560    560       P -> R (in X-ALD; AMN and ALMD-types).
FT                                /FTId=VAR_000076.
FT   VARIANT     560    560       P -> S (in X-ALD).
FT                                /FTId=VAR_013353.
FT   VARIANT     566    566       M -> K (in X-ALD).
FT                                /FTId=VAR_000077.
FT   VARIANT     591    591       R -> P (in X-ALD).
FT                                /FTId=VAR_013354.
FT   VARIANT     591    591       R -> Q (in X-ALD; AMN-type; significantly
FT                                decreases homodimerization and abolishes
FT                                heterodimerization with ALDR and PMP70).
FT                                /FTId=VAR_000078.
FT   VARIANT     591    591       R -> W (in X-ALD).
FT                                /FTId=VAR_009382.
FT   VARIANT     606    606       S -> L (in X-ALD; decreased ATP-binding
FT                                affinity).
FT                                /FTId=VAR_000079.
FT   VARIANT     606    606       S -> P (in X-ALD; CALD, AMN and ALMD-
FT                                types).
FT                                /FTId=VAR_000080.
FT   VARIANT     608    608       G -> D (in X-ALD; CALD-type).
FT                                /FTId=VAR_013355.
FT   VARIANT     609    609       E -> G (in X-ALD).
FT                                /FTId=VAR_000081.
FT   VARIANT     609    609       E -> K (in X-ALD; AMN-type).
FT                                /FTId=VAR_000082.
FT   VARIANT     616    616       A -> V (in X-ALD).
FT                                /FTId=VAR_009383.
FT   VARIANT     617    617       R -> C (in X-ALD; ALD-type and
FT                                asymptomatic).
FT                                /FTId=VAR_000083.
FT   VARIANT     617    617       R -> G (in X-ALD; ADO and AMN-types with
FT                                cerebral involvement).
FT                                /FTId=VAR_000084.
FT   VARIANT     617    617       R -> H (in X-ALD).
FT                                /FTId=VAR_000085.
FT   VARIANT     626    626       A -> D (in X-ALD).
FT                                /FTId=VAR_013356.
FT   VARIANT     626    626       A -> T (in X-ALD; CALD and AMN-types).
FT                                /FTId=VAR_000086.
FT   VARIANT     629    629       D -> H (in X-ALD).
FT                                /FTId=VAR_000087.
FT   VARIANT     630    630       E -> G (in X-ALD).
FT                                /FTId=VAR_009384.
FT   VARIANT     631    631       C -> Y (in X-ALD).
FT                                /FTId=VAR_009385.
FT   VARIANT     632    632       T -> I (in X-ALD).
FT                                /FTId=VAR_013357.
FT   VARIANT     633    633       S -> I (in X-ALD; asymptomatic).
FT                                /FTId=VAR_013358.
FT   VARIANT     633    633       S -> R (in X-ALD).
FT                                /FTId=VAR_009386.
FT   VARIANT     635    635       V -> M (in X-ALD).
FT                                /FTId=VAR_013359.
FT   VARIANT     636    636       S -> I (in X-ALD).
FT                                /FTId=VAR_009387.
FT   VARIANT     638    638       D -> Y (in X-ALD).
FT                                /FTId=VAR_009388.
FT   VARIANT     646    646       A -> P (in X-ALD).
FT                                /FTId=VAR_009389.
FT   VARIANT     654    654       L -> P (in X-ALD).
FT                                /FTId=VAR_009390.
FT   VARIANT     657    657       Missing (in X-ALD; CALD-type).
FT                                /FTId=VAR_000088.
FT   VARIANT     660    660       R -> P (in X-ALD; CALD-type).
FT                                /FTId=VAR_013360.
FT   VARIANT     660    660       R -> W (in X-ALD; CALD, ALMD and AS-
FT                                types).
FT                                /FTId=VAR_000089.
FT   VARIANT     667    667       H -> D (in X-ALD).
FT                                /FTId=VAR_009391.
FT   VARIANT     668    668       T -> I (in X-ALD).
FT                                /FTId=VAR_009392.
FT   VARIANT     679    679       W -> R (in X-ALD; AMN-type).
FT                                /FTId=VAR_000090.
FT   VARIANT     693    693       T -> M (in X-ALD).
FT                                /FTId=VAR_009393.
SQ   SEQUENCE   745 AA;  82908 MW;  13A8EFDE9EB1E7FA CRC64;
     MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
     AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
     CIARKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
     YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
     AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
     VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
     DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
     EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
     IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
     YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
     WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
     PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
     GEAVAPAHVP APSPQGPGGL QGAST
//
