breseq

diff extern/bioperl-live/t/data/P33897 @ 322:15615aa5e212

updating output and docs
author Jeffrey Barrick
date Wed Oct 06 13:42:25 2010 -0400 (2010-10-06)
parents
children
line diff
     1.1 --- /dev/null	Thu Jan 01 00:00:00 1970 +0000
     1.2 +++ b/extern/bioperl-live/t/data/P33897	Wed Oct 06 13:42:25 2010 -0400
     1.3 @@ -0,0 +1,562 @@
     1.4 +ID   ALD_HUMAN      STANDARD;      PRT;   745 AA.
     1.5 +AC   P33897;
     1.6 +DT   01-FEB-1994 (Rel. 28, Created)
     1.7 +DT   01-FEB-1994 (Rel. 28, Last sequence update)
     1.8 +DT   15-JUN-2004 (Rel. 44, Last annotation update)
     1.9 +DE   Adrenoleukodystrophy protein (ALDP).
    1.10 +GN   ABCD1 OR ALD.
    1.11 +OS   Homo sapiens (Human).
    1.12 +OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
    1.13 +OC   Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
    1.14 +OX   NCBI_TaxID=9606;
    1.15 +RN   [1]
    1.16 +RP   SEQUENCE FROM N.A.
    1.17 +RX   MEDLINE=93180910; PubMed=8441467;
    1.18 +RA   Mosser J., Douar A.-M., Sarde C.-O., Kioschis P., Feil R., Moser H.,
    1.19 +RA   Poustka A.-M., Mandel J.-L., Aubourg P.;
    1.20 +RT   "Putative X-linked adrenoleukodystrophy gene shares unexpected
    1.21 +RT   homology with ABC transporters.";
    1.22 +RL   Nature 361:726-730(1993).
    1.23 +RN   [2]
    1.24 +RP   SEQUENCE FROM N.A.
    1.25 +RA   Platzer M., Bauer D., Brenner V., Drescher B., Nyakatura G.,
    1.26 +RA   Reichwald K., Sandoval N., Coy J., Kioschis P., Korn B.,
    1.27 +RA   Poustka A.-M., Rosenthal A.;
    1.28 +RL   Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
    1.29 +RN   [3]
    1.30 +RP   SUBUNITS, AND CHARACTERIZATION OF VARIANTS X-ALD HIS-389; GLN-401;
    1.31 +RP   ARG-484 AND GLN-591.
    1.32 +RX   MEDLINE=20020240; PubMed=10551832;
    1.33 +RA   Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R.,
    1.34 +RA   Aubourg P.;
    1.35 +RT   "Homo- and heterodimerization of peroxisomal ATP-binding cassette
    1.36 +RT   half-transporters.";
    1.37 +RL   J. Biol. Chem. 274:32738-32743(1999).
    1.38 +RN   [4]
    1.39 +RP   FUNCTION, AND CHARACTERIZATION OF VARIANTS X-ALD SER-512 AND LEU-606.
    1.40 +RX   MEDLINE=21145507; PubMed=11248239;
    1.41 +RA   Roerig P., Mayerhofer P., Holzinger A., Gaertner J.;
    1.42 +RT   "Characterization and functional analysis of the nucleotide binding
    1.43 +RT   fold in human peroxisomal ATP binding cassette transporters.";
    1.44 +RL   FEBS Lett. 492:66-72(2001).
    1.45 +RN   [5]
    1.46 +RP   REVIEW.
    1.47 +RX   MEDLINE=93283453; PubMed=8507690;
    1.48 +RA   Aubourg P., Mosser J., Douar A.-M., Sarde C.-O., Lopez J.,
    1.49 +RA   Mandel J.-L.;
    1.50 +RT   "Adrenoleukodystrophy gene: unexpected homology to a protein involved
    1.51 +RT   in peroxisome biogenesis.";
    1.52 +RL   Biochimie 75:293-302(1993).
    1.53 +RN   [6]
    1.54 +RP   REVIEW ON VARIANTS.
    1.55 +RX   MEDLINE=97338663; PubMed=9195223;
    1.56 +RA   Dodd A., Rowland S.A., Hawkes S.L.J., Kennedy M.A., Love D.R.;
    1.57 +RT   "Mutations in the adrenoleukodystrophy gene.";
    1.58 +RL   Hum. Mutat. 9:500-511(1997).
    1.59 +RN   [7]
    1.60 +RP   REVIEW ON VARIANTS.
    1.61 +RX   MEDLINE=21614879; PubMed=11748843;
    1.62 +RA   Kemp S., Pujol A., Waterham H.R., van Geel B.M., Boehm C.D.,
    1.63 +RA   Raymond G.V., Cutting G.R., Wanders R.J.A., Moser H.W.;
    1.64 +RT   "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation
    1.65 +RT   database: role in diagnosis and clinical correlations.";
    1.66 +RL   Hum. Mutat. 18:499-515(2001).
    1.67 +RN   [8]
    1.68 +RP   VARIANT X-ALD LYS-291.
    1.69 +RX   MEDLINE=94108454; PubMed=7904210;
    1.70 +RA   Cartier N., Sarde C.-O., Douar A.-M., Mosser J., Mandel J.-L.,
    1.71 +RA   Aubourg P.;
    1.72 +RT   "Abnormal messenger RNA expression and a missense mutation in
    1.73 +RT   patients with X-linked adrenoleukodystrophy.";
    1.74 +RL   Hum. Mol. Genet. 2:1949-1951(1993).
    1.75 +RN   [9]
    1.76 +RP   VARIANTS X-ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND
    1.77 +RP   PHE-515.
    1.78 +RX   MEDLINE=95152524; PubMed=7849723;
    1.79 +RA   Fuchs S., Sarde C.-O., Wedemann H., Schwinger E., Mandel J.-L.,
    1.80 +RA   Gal A.;
    1.81 +RT   "Missense mutations are frequent in the gene for X-chromosomal
    1.82 +RT   adrenoleukodystrophy (ALD).";
    1.83 +RL   Hum. Mol. Genet. 3:1903-1905(1994).
    1.84 +RN   [10]
    1.85 +RP   VARIANTS X-ALD TRP-518; LEU-606; CYS-617 AND HIS-617.
    1.86 +RX   MEDLINE=94314951; PubMed=8040304;
    1.87 +RA   Fanen P., Guidoux S., Sarde C.-O., Mandel J.-L., Goossens M.,
    1.88 +RA   Aubourg P.;
    1.89 +RT   "Identification of mutations in the putative ATP-binding domain of
    1.90 +RT   the adrenoleukodystrophy gene.";
    1.91 +RL   J. Clin. Invest. 94:516-520(1994).
    1.92 +RN   [11]
    1.93 +RP   VARIANTS X-ALD.
    1.94 +RX   MEDLINE=95126139; PubMed=7825602;
    1.95 +RA   Ligtenberg M.J.L., Kemp S., Sarde C.-O., van Geel B.M., Kleijer W.J.,
    1.96 +RA   Barth P.G., Mandel J.-L., van Oost B.A., Bolhuis P.A.;
    1.97 +RT   "Spectrum of mutations in the gene encoding the adrenoleukodystrophy
    1.98 +RT   protein.";
    1.99 +RL   Am. J. Hum. Genet. 56:44-50(1995).
   1.100 +RN   [12]
   1.101 +RP   VARIANTS X-ALD HIS-104; GLU-178; LEU-560 AND GLY-528 DEL.
   1.102 +RX   MEDLINE=95233433; PubMed=7717396;
   1.103 +RA   Braun A., Ambach H., Kammerer S., Rolinski B., Stoeckler S., Rabl W.,
   1.104 +RA   Gaertner J., Zierz S., Roscher A.A.;
   1.105 +RT   "Mutations in the gene for X-linked adrenoleukodystrophy in patients
   1.106 +RT   with different clinical phenotypes.";
   1.107 +RL   Am. J. Hum. Genet. 56:854-861(1995).
   1.108 +RN   [13]
   1.109 +RP   VARIANTS X-ALD.
   1.110 +RX   MEDLINE=96047143; PubMed=7581394;
   1.111 +RA   Kok F., Neumann S., Sarde C.-O., Zheng S., Wu K.-H., Wei H.-M.,
   1.112 +RA   Bergin J., Watkins P.A., Gould S., Sack G., Moser H., Mandel J.-L.,
   1.113 +RA   Smith K.D.;
   1.114 +RT   "Mutational analysis of patients with X-linked adrenoleukodystrophy.";
   1.115 +RL   Hum. Mutat. 6:104-115(1995).
   1.116 +RN   [14]
   1.117 +RP   VARIANTS X-ALD.
   1.118 +RX   MEDLINE=96213748; PubMed=8651290;
   1.119 +RA   Feigenbaum V., Lombard-Platet G., Guidoux S., Sarde C.-O.,
   1.120 +RA   Mandel J.-L., Aubourg P.;
   1.121 +RT   "Mutational and protein analysis of patients and heterozygous women
   1.122 +RT   with X-linked adrenoleukodystrophy.";
   1.123 +RL   Am. J. Hum. Genet. 58:1135-1144(1996).
   1.124 +RN   [15]
   1.125 +RP   VARIANTS X-ALD.
   1.126 +RX   MEDLINE=96163493; PubMed=8566952;
   1.127 +RA   Krasemann E.W., Meier V., Korenke G.C., Hunneman D.H., Hanefeld F.;
   1.128 +RT   "Identification of mutations in the ALD-gene of 20 families with
   1.129 +RT   adrenoleukodystrophy/adrenomyeloneuropathy.";
   1.130 +RL   Hum. Genet. 97:194-197(1996).
   1.131 +RN   [16]
   1.132 +RP   VARIANT X-ALD ARG-679.
   1.133 +RX   MEDLINE=98112466; PubMed=9452087;
   1.134 +RA   Korenke G.C., Krasemann E., Meier V., Beuche W., Hunneman D.H.,
   1.135 +RA   Hanefeld F.;
   1.136 +RT   "First missense mutation (W679R) in exon 10 of the
   1.137 +RT   adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.";
   1.138 +RL   Hum. Mutat. Suppl. 1:S204-S206(1998).
   1.139 +RN   [17]
   1.140 +RP   VARIANTS X-ALD.
   1.141 +RX   MEDLINE=99408241; PubMed=10480364;
   1.142 +RA   Wichers M., Kohler W., Brennemann W., Boese V., Sokolowski P.,
   1.143 +RA   Bidlingmaier F., Ludwig M.;
   1.144 +RT   "X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene
   1.145 +RT   mutations: no correlation between type of mutation and age of onset.";
   1.146 +RL   Hum. Genet. 105:116-119(1999).
   1.147 +RN   [18]
   1.148 +RP   VARIANTS X-ALD LEU-108 AND SER-143.
   1.149 +RX   MEDLINE=99299442; PubMed=10369742;
   1.150 +RA   Perusi C., Gomez-Lira M., Mottes M., Pignatti P.F., Bertini E.,
   1.151 +RA   Cappa M., Vigliani M.C., Schiffer D., Rizzuto N., Salviati A.;
   1.152 +RT   "Two novel missense mutations causing adrenoleukodystrophy in Italian
   1.153 +RT   patients.";
   1.154 +RL   Mol. Cell. Probes 13:179-182(1999).
   1.155 +RN   [19]
   1.156 +RP   VARIANTS X-ALD.
   1.157 +RX   MEDLINE=20202141; PubMed=10737980;
   1.158 +RA   Lachtermacher M.B., Seuanez H.N., Moser A.B., Moser H.W., Smith K.D.;
   1.159 +RT   "Determination of 30 X-linked adrenoleukodystrophy mutations,
   1.160 +RT   including 15 not previously described.";
   1.161 +RL   Hum. Mutat. 15:348-353(2000).
   1.162 +RN   [20]
   1.163 +RP   VARIANTS X-ALD GLN-401; TRP-418; LEU-543 AND ARG-556.
   1.164 +RX   MEDLINE=20438355; PubMed=10980539;
   1.165 +RA   Lira M.G., Mottes M., Pignatti P.F., Medica I., Uziel G., Cappa M.,
   1.166 +RA   Bertini E., Rizzuto N., Salviati A.;
   1.167 +RT   "Detection of mutations in the ALD gene (ABCD1) in seven Italian
   1.168 +RT   families: description of four novel mutations.";
   1.169 +RL   Hum. Mutat. 16:271-271(2000).
   1.170 +RN   [21]
   1.171 +RP   VARIANTS X-ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND
   1.172 +RP   PRO-660, AND VARIANT THR-13.
   1.173 +RX   MEDLINE=21331689; PubMed=11438993;
   1.174 +RA   Dvorakova L., Storkanova G., Unterrainer G., Hujova J., Kmoch S.,
   1.175 +RA   Zeman J., Hrebicek M., Berger J.;
   1.176 +RT   "Eight novel ABCD1 gene mutations and three polymorphisms in patients
   1.177 +RT   with X-linked adrenoleukodystrophy: the first polymorphism causing an
   1.178 +RT   amino acid exchange.";
   1.179 +RL   Hum. Mutat. 18:52-60(2001).
   1.180 +RN   [22]
   1.181 +RP   VARIANT X-ALD VAL-GLY-GLN-300 INS.
   1.182 +RX   MEDLINE=21668186; PubMed=11810273; DOI=10.1007/s00439-001-0632-z;
   1.183 +RA   Guimaraes C.P., Lemos M., Menezes I., Coelho T., Sa-Miranda C.,
   1.184 +RA   Azevedo J.E.;
   1.185 +RT   "Characterisation of two mutations in the ABCD1 gene leading to low
   1.186 +RT   levels of normal ALDP.";
   1.187 +RL   Hum. Genet. 109:616-622(2001).
   1.188 +RN   [23]
   1.189 +RP   INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME.
   1.190 +RX   PubMed=11992258;
   1.191 +RA   Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F.,
   1.192 +RA   Casey R., Zeiss C., Tyson H., Cutting G.R., Raymond G.V., Smith K.D.,
   1.193 +RA   Watkins P.A., Moser A.B., Moser H.W., Steinberg S.J.;
   1.194 +RT   "Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1)
   1.195 +RT   and DXS1357E: a novel neonatal phenotype similar to peroxisomal
   1.196 +RT   biogenesis disorders.";
   1.197 +RL   Am. J. Hum. Genet. 70:1520-1531(2002).
   1.198 +CC   -!- FUNCTION: Probable transporter. The nucleotide-binding fold acts
   1.199 +CC       as an ATP-binding subunit with ATPase activity.
   1.200 +CC   -!- SUBUNIT: Can form homo- and heterodimers with ABCD2/ALDR and
   1.201 +CC       ABCD3/PMP70. Dimerization is necessary to form an active
   1.202 +CC       transporter.
   1.203 +CC   -!- SUBCELLULAR LOCATION: Integral membrane protein. Peroxisomal.
   1.204 +CC   -!- DISEASE: Defects in ABCD1 are the cause of recessive X-linked
   1.205 +CC       adrenoleukodystrophy (X-ALD) [MIM:300100]. X-ALD is a rare
   1.206 +CC       peroxisomal metabolic disorder that occurs in boys and is
   1.207 +CC       characterized by progressive multifocal demyelination of the
   1.208 +CC       central nervous system and by adrenocortical insufficiency. It
   1.209 +CC       produces mental deterioration, corticospinal tract dysfunction,
   1.210 +CC       and cortical blindness. There is laboratory evidence of adrenal
   1.211 +CC       cortical dysfunction. Different clinical manifestations exist
   1.212 +CC       like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD),
   1.213 +CC       adrenomyeloneuropathy (AMN) and "Addison disease only" (ADO)
   1.214 +CC       phenotype.
   1.215 +CC   -!- DISEASE: Microdeletions in ABCD1 are involved in the contiguous
   1.216 +CC       ABCD1/DXS1375E deletion syndrome (CADDS) [MIM:300475]. Patients
   1.217 +CC       manifest profound neonatal hypotonia, subsequent failure to
   1.218 +CC       thrive, and cholestatic liver disease.
   1.219 +CC   -!- SIMILARITY: Belongs to the ABC transporter family. ALD subfamily.
   1.220 +CC   -!- DATABASE: NAME=X-ALD gene mutation database;
   1.221 +CC       WWW="http://www.x-ald.nl/".
   1.222 +CC   --------------------------------------------------------------------------
   1.223 +CC   This SWISS-PROT entry is copyright. It is produced through a collaboration
   1.224 +CC   between  the Swiss Institute of Bioinformatics  and the  EMBL outstation -
   1.225 +CC   the European Bioinformatics Institute.  There are no  restrictions on  its
   1.226 +CC   use  by  non-profit  institutions as long  as its content  is  in  no  way
   1.227 +CC   modified and this statement is not removed.  Usage  by  and for commercial
   1.228 +CC   entities requires a license agreement (See http://www.isb-sib.ch/announce/
   1.229 +CC   or send an email to license@isb-sib.ch).
   1.230 +CC   --------------------------------------------------------------------------
   1.231 +DR   EMBL; Z21876; CAA79922.1; -.
   1.232 +DR   EMBL; Z31348; CAA83230.1; -.
   1.233 +DR   EMBL; Z31006; CAA83230.1; JOINED.
   1.234 +DR   EMBL; Z31007; CAA83230.1; JOINED.
   1.235 +DR   EMBL; Z31008; CAA83230.1; JOINED.
   1.236 +DR   EMBL; Z31009; CAA83230.1; JOINED.
   1.237 +DR   EMBL; Z31010; CAA83230.1; JOINED.
   1.238 +DR   EMBL; U52111; -; NOT_ANNOTATED_CDS.
   1.239 +DR   PIR; G02500; G02500.
   1.240 +DR   Genew; HGNC:61; ABCD1.
   1.241 +DR   MIM; 300371; -.
   1.242 +DR   MIM; 300100; -.
   1.243 +DR   MIM; 300475; -.
   1.244 +DR   GO; GO:0005779; C:integral to peroxisomal membrane; NAS.
   1.245 +DR   GO; GO:0004009; F:ATP-binding cassette (ABC) transporter acti...; NAS.
   1.246 +DR   GO; GO:0005215; F:transporter activity; NAS.
   1.247 +DR   GO; GO:0015919; P:peroxisomal membrane transport; NAS.
   1.248 +DR   GO; GO:0007031; P:peroxisome organization and biogenesis; NAS.
   1.249 +DR   InterPro; IPR003593; AAA_ATPase.
   1.250 +DR   InterPro; IPR003439; ABC_transporter.
   1.251 +DR   InterPro; IPR005283; FA_transporter.
   1.252 +DR   Pfam; PF00005; ABC_tran; 1.
   1.253 +DR   Pfam; PF06472; Ald_N; 1.
   1.254 +DR   ProDom; PD000006; ABC_transporter; 1.
   1.255 +DR   TIGRFAMs; TIGR00954; 3a01203; 1.
   1.256 +DR   PROSITE; PS50929; ABC_TM1F; 1.
   1.257 +DR   PROSITE; PS00211; ABC_TRANSPORTER_1; 1.
   1.258 +DR   PROSITE; PS50893; ABC_TRANSPORTER_2; 1.
   1.259 +KW   ATP-binding; Glycoprotein; Transmembrane; Transport; Peroxisome;
   1.260 +KW   Disease mutation; Polymorphism.
   1.261 +FT   TRANSMEM     92    112       Potential.
   1.262 +FT   TRANSMEM    131    151       Potential.
   1.263 +FT   TRANSMEM    238    258       Potential.
   1.264 +FT   TRANSMEM    333    353       Potential.
   1.265 +FT   TRANSMEM    473    493       Potential.
   1.266 +FT   NP_BIND     507    514       ATP (By similarity).
   1.267 +FT   VARIANT      13     13       N -> T (very rare polymorphism; does not
   1.268 +FT                                affect ALDP function).
   1.269 +FT                                /FTId=VAR_013340.
   1.270 +FT   VARIANT      90     90       E -> K (in X-ALD).
   1.271 +FT                                /FTId=VAR_009349.
   1.272 +FT   VARIANT      98     98       S -> L (in X-ALD; CALD type).
   1.273 +FT                                /FTId=VAR_000024.
   1.274 +FT   VARIANT      99     99       A -> D (in X-ALD; AMN-type).
   1.275 +FT                                /FTId=VAR_013341.
   1.276 +FT   VARIANT     103    103       S -> R (in X-ALD).
   1.277 +FT                                /FTId=VAR_009350.
   1.278 +FT   VARIANT     104    104       R -> C (in X-ALD).
   1.279 +FT                                /FTId=VAR_000025.
   1.280 +FT   VARIANT     104    104       R -> H (in X-ALD; ADO-type).
   1.281 +FT                                /FTId=VAR_000026.
   1.282 +FT   VARIANT     105    105       T -> I (in X-ALD; ADO-type).
   1.283 +FT                                /FTId=VAR_000027.
   1.284 +FT   VARIANT     105    105       T -> P (in X-ALD).
   1.285 +FT                                /FTId=VAR_009351.
   1.286 +FT   VARIANT     107    107       L -> P (in X-ALD; ALD/AMN/ADO-types and
   1.287 +FT                                asymptomatic).
   1.288 +FT                                /FTId=VAR_000028.
   1.289 +FT   VARIANT     108    108       S -> L (in X-ALD).
   1.290 +FT                                /FTId=VAR_009352.
   1.291 +FT   VARIANT     108    108       S -> W (in X-ALD; CALD and AMN-types).
   1.292 +FT                                /FTId=VAR_000029.
   1.293 +FT   VARIANT     113    113       R -> C (in X-ALD).
   1.294 +FT                                /FTId=VAR_009353.
   1.295 +FT   VARIANT     113    113       R -> P (in X-ALD).
   1.296 +FT                                /FTId=VAR_013342.
   1.297 +FT   VARIANT     116    116       G -> R (in X-ALD; CALD-type).
   1.298 +FT                                /FTId=VAR_000030.
   1.299 +FT   VARIANT     123    123       A -> V.
   1.300 +FT                                /FTId=VAR_000031.
   1.301 +FT   VARIANT     138    141       Missing (in X-ALD; ALD-type).
   1.302 +FT                                /FTId=VAR_000032.
   1.303 +FT   VARIANT     141    141       A -> T (in X-ALD).
   1.304 +FT                                /FTId=VAR_000033.
   1.305 +FT   VARIANT     143    143       P -> S (in X-ALD).
   1.306 +FT                                /FTId=VAR_009354.
   1.307 +FT   VARIANT     148    148       N -> S (in X-ALD; ADO-type).
   1.308 +FT                                /FTId=VAR_000034.
   1.309 +FT   VARIANT     149    149       S -> N (in X-ALD).
   1.310 +FT                                /FTId=VAR_000035.
   1.311 +FT   VARIANT     152    152       R -> C (in X-ALD; ADO-type).
   1.312 +FT                                /FTId=VAR_000036.
   1.313 +FT   VARIANT     152    152       R -> L (in X-ALD).
   1.314 +FT                                /FTId=VAR_009355.
   1.315 +FT   VARIANT     152    152       R -> P (in X-ALD).
   1.316 +FT                                /FTId=VAR_000037.
   1.317 +FT   VARIANT     152    152       R -> S (in X-ALD).
   1.318 +FT                                /FTId=VAR_009356.
   1.319 +FT   VARIANT     161    161       S -> P (in X-ALD).
   1.320 +FT                                /FTId=VAR_009357.
   1.321 +FT   VARIANT     163    163       R -> H (in X-ALD).
   1.322 +FT                                /FTId=VAR_000038.
   1.323 +FT   VARIANT     163    163       R -> P (in X-ALD).
   1.324 +FT                                /FTId=VAR_009358.
   1.325 +FT   VARIANT     174    174       Y -> C (in X-ALD).
   1.326 +FT                                /FTId=VAR_009359.
   1.327 +FT   VARIANT     174    174       Y -> D (in X-ALD; ALD-type).
   1.328 +FT                                /FTId=VAR_000039.
   1.329 +FT   VARIANT     174    174       Y -> S (in X-ALD; CALD-type).
   1.330 +FT                                /FTId=VAR_000040.
   1.331 +FT   VARIANT     178    178       Q -> E (in X-ALD; AMN-type).
   1.332 +FT                                /FTId=VAR_000041.
   1.333 +FT   VARIANT     181    181       Y -> C (in X-ALD; ALMD-type).
   1.334 +FT                                /FTId=VAR_000042.
   1.335 +FT   VARIANT     182    182       R -> P (in X-ALD).
   1.336 +FT                                /FTId=VAR_000043.
   1.337 +FT   VARIANT     189    189       R -> W (in X-ALD).
   1.338 +FT                                /FTId=VAR_009360.
   1.339 +FT   VARIANT     190    190       L -> P (in X-ALD).
   1.340 +FT                                /FTId=VAR_009361.
   1.341 +FT   VARIANT     194    194       D -> H (in X-ALD).
   1.342 +FT                                /FTId=VAR_000044.
   1.343 +FT   VARIANT     198    198       T -> K (in X-ALD).
   1.344 +FT                                /FTId=VAR_009362.
   1.345 +FT   VARIANT     200    200       D -> N (in X-ALD).
   1.346 +FT                                /FTId=VAR_009363.
   1.347 +FT   VARIANT     200    200       D -> V (in X-ALD; CALD-type).
   1.348 +FT                                /FTId=VAR_000045.
   1.349 +FT   VARIANT     207    207       S -> SAAS (in X-ALD).
   1.350 +FT                                /FTId=VAR_013343.
   1.351 +FT   VARIANT     211    211       L -> P (in X-ALD).
   1.352 +FT                                /FTId=VAR_000046.
   1.353 +FT   VARIANT     213    213       S -> C (in X-ALD).
   1.354 +FT                                /FTId=VAR_009364.
   1.355 +FT   VARIANT     214    214       N -> D (in X-ALD).
   1.356 +FT                                /FTId=VAR_009365.
   1.357 +FT   VARIANT     217    217       K -> E (in X-ALD).
   1.358 +FT                                /FTId=VAR_013344.
   1.359 +FT   VARIANT     218    218       P -> T (in X-ALD).
   1.360 +FT                                /FTId=VAR_009366.
   1.361 +FT   VARIANT     220    220       L -> P (in X-ALD).
   1.362 +FT                                /FTId=VAR_000047.
   1.363 +FT   VARIANT     221    221       D -> G (in X-ALD; CALD and AMN-types).
   1.364 +FT                                /FTId=VAR_000048.
   1.365 +FT   VARIANT     224    224       V -> E (in X-ALD).
   1.366 +FT                                /FTId=VAR_013345.
   1.367 +FT   VARIANT     229    229       L -> P (in X-ALD).
   1.368 +FT                                /FTId=VAR_009367.
   1.369 +FT   VARIANT     254    254       T -> M (in X-ALD; AMN-type).
   1.370 +FT                                /FTId=VAR_000049.
   1.371 +FT   VARIANT     254    254       T -> P (in X-ALD; AMN-type).
   1.372 +FT                                /FTId=VAR_000050.
   1.373 +FT   VARIANT     263    263       P -> L (in X-ALD; CALD, AMN and AD-
   1.374 +FT                                typeS).
   1.375 +FT                                /FTId=VAR_000051.
   1.376 +FT   VARIANT     266    266       G -> R (in X-ALD).
   1.377 +FT                                /FTId=VAR_000052.
   1.378 +FT   VARIANT     271    271       E -> K (in X-ALD).
   1.379 +FT                                /FTId=VAR_009368.
   1.380 +FT   VARIANT     274    274       R -> W (in X-ALD).
   1.381 +FT                                /FTId=VAR_013346.
   1.382 +FT   VARIANT     276    276       K -> E (in X-ALD; CALD-type).
   1.383 +FT                                /FTId=VAR_000053.
   1.384 +FT   VARIANT     277    277       G -> R (in X-ALD; AMN-type).
   1.385 +FT                                /FTId=VAR_000054.
   1.386 +FT   VARIANT     277    277       G -> GN (in X-ALD; ADO-type).
   1.387 +FT                                /FTId=VAR_000055.
   1.388 +FT   VARIANT     277    277       G -> W (in X-ALD).
   1.389 +FT                                /FTId=VAR_000056.
   1.390 +FT   VARIANT     280    280       R -> C (in X-ALD).
   1.391 +FT                                /FTId=VAR_013347.
   1.392 +FT   VARIANT     285    285       R -> P (in X-ALD).
   1.393 +FT                                /FTId=VAR_009369.
   1.394 +FT   VARIANT     291    291       E -> D (in X-ALD; ACALD and CALD-types).
   1.395 +FT                                /FTId=VAR_000057.
   1.396 +FT   VARIANT     291    291       E -> K (in X-ALD).
   1.397 +FT                                /FTId=VAR_000058.
   1.398 +FT   VARIANT     291    291       Missing (in X-ALD; ALD-type).
   1.399 +FT                                /FTId=VAR_000059.
   1.400 +FT   VARIANT     294    294       A -> T (in X-ALD; AMN-type).
   1.401 +FT                                /FTId=VAR_000060.
   1.402 +FT   VARIANT     296    296       Y -> C (in X-ALD).
   1.403 +FT                                /FTId=VAR_009370.
   1.404 +FT   VARIANT     298    298       G -> D (in X-ALD).
   1.405 +FT                                /FTId=VAR_009371.
   1.406 +FT   VARIANT     300    300       E -> EVGQ (in X-ALD).
   1.407 +FT                                /FTId=VAR_013348.
   1.408 +FT   VARIANT     302    302       E -> K (in X-ALD).
   1.409 +FT                                /FTId=VAR_009372.
   1.410 +FT   VARIANT     322    322       L -> P (in X-ALD).
   1.411 +FT                                /FTId=VAR_009373.
   1.412 +FT   VARIANT     336    336       K -> M (in X-ALD).
   1.413 +FT                                /FTId=VAR_009374.
   1.414 +FT   VARIANT     339    339       W -> R (in X-ALD).
   1.415 +FT                                /FTId=VAR_013349.
   1.416 +FT   VARIANT     342    342       S -> P (in X-ALD; AMN-type).
   1.417 +FT                                /FTId=VAR_000061.
   1.418 +FT   VARIANT     343    343       G -> D (in X-ALD).
   1.419 +FT                                /FTId=VAR_013350.
   1.420 +FT   VARIANT     389    389       R -> G (in X-ALD; AMN-type).
   1.421 +FT                                /FTId=VAR_000062.
   1.422 +FT   VARIANT     389    389       R -> H (in X-ALD; does not affect protein
   1.423 +FT                                stability, homo- and heterodimerization
   1.424 +FT                                with ALDR and PMP70).
   1.425 +FT                                /FTId=VAR_000063.
   1.426 +FT   VARIANT     401    401       R -> Q (in X-ALD; ALD and AMN-types; does
   1.427 +FT                                not affect protein stability, homo- and
   1.428 +FT                                heterodimerization with ALDR and PMP70).
   1.429 +FT                                /FTId=VAR_000064.
   1.430 +FT   VARIANT     401    401       R -> W (in X-ALD).
   1.431 +FT                                /FTId=VAR_009375.
   1.432 +FT   VARIANT     418    418       R -> W (in X-ALD; AMN-type).
   1.433 +FT                                /FTId=VAR_000065.
   1.434 +FT   VARIANT     427    427       Missing (in X-ALD).
   1.435 +FT                                /FTId=VAR_013351.
   1.436 +FT   VARIANT     484    484       P -> R (in X-ALD; CALD, AMN and ADO-
   1.437 +FT                                types; significantly decreases
   1.438 +FT                                homodimerization and abolishes
   1.439 +FT                                heterodimerization with ALDR and PMP70).
   1.440 +FT                                /FTId=VAR_000066.
   1.441 +FT   VARIANT     507    507       G -> V (in X-ALD; CALD-types).
   1.442 +FT                                /FTId=VAR_000067.
   1.443 +FT   VARIANT     512    512       G -> S (in X-ALD; CALD and AS-types;
   1.444 +FT                                reduced ATPase activity).
   1.445 +FT                                /FTId=VAR_000068.
   1.446 +FT   VARIANT     515    515       S -> F (in X-ALD).
   1.447 +FT                                /FTId=VAR_000069.
   1.448 +FT   VARIANT     518    518       R -> Q (in X-ALD; CALD-type).
   1.449 +FT                                /FTId=VAR_000070.
   1.450 +FT   VARIANT     518    518       R -> W (in X-ALD; CALD-type).
   1.451 +FT                                /FTId=VAR_000071.
   1.452 +FT   VARIANT     522    522       G -> W (in X-ALD; AD-type).
   1.453 +FT                                /FTId=VAR_000072.
   1.454 +FT   VARIANT     528    528       Missing (in X-ALD; CALD-type).
   1.455 +FT                                /FTId=VAR_000073.
   1.456 +FT   VARIANT     529    529       G -> S (in X-ALD).
   1.457 +FT                                /FTId=VAR_009376.
   1.458 +FT   VARIANT     534    534       P -> L (in X-ALD; CALD-type).
   1.459 +FT                                /FTId=VAR_000074.
   1.460 +FT   VARIANT     540    540       F -> S (in X-ALD).
   1.461 +FT                                /FTId=VAR_009377.
   1.462 +FT   VARIANT     543    543       P -> L (in X-ALD).
   1.463 +FT                                /FTId=VAR_009378.
   1.464 +FT   VARIANT     544    544       Q -> R (in X-ALD).
   1.465 +FT                                /FTId=VAR_009379.
   1.466 +FT   VARIANT     552    552       S -> P (in X-ALD).
   1.467 +FT                                /FTId=VAR_009380.
   1.468 +FT   VARIANT     554    554       R -> H (in X-ALD).
   1.469 +FT                                /FTId=VAR_009381.
   1.470 +FT   VARIANT     556    556       Q -> R (in X-ALD; ACALD type).
   1.471 +FT                                /FTId=VAR_013352.
   1.472 +FT   VARIANT     560    560       P -> L (in X-ALD; CALD-type).
   1.473 +FT                                /FTId=VAR_000075.
   1.474 +FT   VARIANT     560    560       P -> R (in X-ALD; AMN and ALMD-types).
   1.475 +FT                                /FTId=VAR_000076.
   1.476 +FT   VARIANT     560    560       P -> S (in X-ALD).
   1.477 +FT                                /FTId=VAR_013353.
   1.478 +FT   VARIANT     566    566       M -> K (in X-ALD).
   1.479 +FT                                /FTId=VAR_000077.
   1.480 +FT   VARIANT     591    591       R -> P (in X-ALD).
   1.481 +FT                                /FTId=VAR_013354.
   1.482 +FT   VARIANT     591    591       R -> Q (in X-ALD; AMN-type; significantly
   1.483 +FT                                decreases homodimerization and abolishes
   1.484 +FT                                heterodimerization with ALDR and PMP70).
   1.485 +FT                                /FTId=VAR_000078.
   1.486 +FT   VARIANT     591    591       R -> W (in X-ALD).
   1.487 +FT                                /FTId=VAR_009382.
   1.488 +FT   VARIANT     606    606       S -> L (in X-ALD; decreased ATP-binding
   1.489 +FT                                affinity).
   1.490 +FT                                /FTId=VAR_000079.
   1.491 +FT   VARIANT     606    606       S -> P (in X-ALD; CALD, AMN and ALMD-
   1.492 +FT                                types).
   1.493 +FT                                /FTId=VAR_000080.
   1.494 +FT   VARIANT     608    608       G -> D (in X-ALD; CALD-type).
   1.495 +FT                                /FTId=VAR_013355.
   1.496 +FT   VARIANT     609    609       E -> G (in X-ALD).
   1.497 +FT                                /FTId=VAR_000081.
   1.498 +FT   VARIANT     609    609       E -> K (in X-ALD; AMN-type).
   1.499 +FT                                /FTId=VAR_000082.
   1.500 +FT   VARIANT     616    616       A -> V (in X-ALD).
   1.501 +FT                                /FTId=VAR_009383.
   1.502 +FT   VARIANT     617    617       R -> C (in X-ALD; ALD-type and
   1.503 +FT                                asymptomatic).
   1.504 +FT                                /FTId=VAR_000083.
   1.505 +FT   VARIANT     617    617       R -> G (in X-ALD; ADO and AMN-types with
   1.506 +FT                                cerebral involvement).
   1.507 +FT                                /FTId=VAR_000084.
   1.508 +FT   VARIANT     617    617       R -> H (in X-ALD).
   1.509 +FT                                /FTId=VAR_000085.
   1.510 +FT   VARIANT     626    626       A -> D (in X-ALD).
   1.511 +FT                                /FTId=VAR_013356.
   1.512 +FT   VARIANT     626    626       A -> T (in X-ALD; CALD and AMN-types).
   1.513 +FT                                /FTId=VAR_000086.
   1.514 +FT   VARIANT     629    629       D -> H (in X-ALD).
   1.515 +FT                                /FTId=VAR_000087.
   1.516 +FT   VARIANT     630    630       E -> G (in X-ALD).
   1.517 +FT                                /FTId=VAR_009384.
   1.518 +FT   VARIANT     631    631       C -> Y (in X-ALD).
   1.519 +FT                                /FTId=VAR_009385.
   1.520 +FT   VARIANT     632    632       T -> I (in X-ALD).
   1.521 +FT                                /FTId=VAR_013357.
   1.522 +FT   VARIANT     633    633       S -> I (in X-ALD; asymptomatic).
   1.523 +FT                                /FTId=VAR_013358.
   1.524 +FT   VARIANT     633    633       S -> R (in X-ALD).
   1.525 +FT                                /FTId=VAR_009386.
   1.526 +FT   VARIANT     635    635       V -> M (in X-ALD).
   1.527 +FT                                /FTId=VAR_013359.
   1.528 +FT   VARIANT     636    636       S -> I (in X-ALD).
   1.529 +FT                                /FTId=VAR_009387.
   1.530 +FT   VARIANT     638    638       D -> Y (in X-ALD).
   1.531 +FT                                /FTId=VAR_009388.
   1.532 +FT   VARIANT     646    646       A -> P (in X-ALD).
   1.533 +FT                                /FTId=VAR_009389.
   1.534 +FT   VARIANT     654    654       L -> P (in X-ALD).
   1.535 +FT                                /FTId=VAR_009390.
   1.536 +FT   VARIANT     657    657       Missing (in X-ALD; CALD-type).
   1.537 +FT                                /FTId=VAR_000088.
   1.538 +FT   VARIANT     660    660       R -> P (in X-ALD; CALD-type).
   1.539 +FT                                /FTId=VAR_013360.
   1.540 +FT   VARIANT     660    660       R -> W (in X-ALD; CALD, ALMD and AS-
   1.541 +FT                                types).
   1.542 +FT                                /FTId=VAR_000089.
   1.543 +FT   VARIANT     667    667       H -> D (in X-ALD).
   1.544 +FT                                /FTId=VAR_009391.
   1.545 +FT   VARIANT     668    668       T -> I (in X-ALD).
   1.546 +FT                                /FTId=VAR_009392.
   1.547 +FT   VARIANT     679    679       W -> R (in X-ALD; AMN-type).
   1.548 +FT                                /FTId=VAR_000090.
   1.549 +FT   VARIANT     693    693       T -> M (in X-ALD).
   1.550 +FT                                /FTId=VAR_009393.
   1.551 +SQ   SEQUENCE   745 AA;  82908 MW;  13A8EFDE9EB1E7FA CRC64;
   1.552 +     MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
   1.553 +     AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
   1.554 +     CIARKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
   1.555 +     YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
   1.556 +     AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
   1.557 +     VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
   1.558 +     DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
   1.559 +     EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
   1.560 +     IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
   1.561 +     YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
   1.562 +     WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
   1.563 +     PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
   1.564 +     GEAVAPAHVP APSPQGPGGL QGAST
   1.565 +//