LOCUS       AF321191                4853 bp    mRNA    linear   HUM 15-MAR-2001
DEFINITION  Homo sapiens L-periaxin (PRX) mRNA, complete cds, alternatively
            spliced.
ACCESSION   AF321191
VERSION     AF321191.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4853)
  AUTHORS   Boerkoel,C.F., Takashima,H., Stankiewicz,P., Garcia,C.A.,
            Leber,S.M., Rhee-Morris,L. and Lupski,J.R.
  TITLE     Periaxin mutations cause recessive Dejerine-Sottas neuropathy
  JOURNAL   Am. J. Hum. Genet. 68 (2), 325-333 (2001)
   PUBMED   11133365
REFERENCE   2  (bases 1 to 4853)
  AUTHORS   Boerkoel,C.F., Takashima,H. and Lupski,J.R.
  TITLE     Direct Submission
  JOURNAL   Submitted (13-NOV-2000) Molecular and Human Genetics, Baylor
            College of Medicine, One Baylor Plaza, Room 609E, Houston, TX
            77030, USA
FEATURES             Location/Qualifiers
     source          1..4853
                     /db_xref="H-InvDB:HIT000077382"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.13-q13.2"
     gene            1..4853
                     /gene="PRX"
     CDS             270..4655
                     /gene="PRX"
                     /note="PDZ domain protein; myelin sheath maintenance;
                     alternatively spliced"
                     /codon_start=1
                     /product="L-periaxin"
                     /protein_id="AAK19279.1"
                     /translation="MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFV
                     RELREDSPAARSLSLQEGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPT
                     GDLALRPGTVSGYEIKGPRAKVAKLNIQSLSPVKKKKMVPGALGVPADLAPVDVEFSF
                     PKFSRLRRGLKAEAVKGPVPAAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAK
                     VEAEVAAGARFTAPQVELVGPRLPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLG
                     APAPPAVEAPAVGIQVPQVELPALPSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVG
                     VDLALPGAEVEARGEAPEVALKMPRLSFPRFGARAKEVAEAKVAKVSPEARVKGPRLR
                     MPTFGLSLLEPRPAAPEVVESKLKLPTIKMPSLGIGVSGPEVKVPKGPEVKLPKAPEV
                     KLPKVPEAALPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVELPKVSEMKLPKVP
                     EMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPEVRLPEVQLPKVSEMKLPEVSEVAVPE
                     VRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKLPEVQLPKVPEMAVPDVHLPEVQLP
                     KVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLPKVPEMKLPKMPEMAVPEVRLPE
                     VQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVPDMKLPEIKLPKVPEMAVPDV
                     HLPEVQLPKVSEIRLPEMQVPKVPDVHLPKAPEVKLPRAPEVQLKATKAEQAEGMEFG
                     FKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPEVDGEAHVGVPSLTLPS
                     VELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPSVEIVTPQLPAVEIE
                     EGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVSKFAISLPKARVG
                     AEAEAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPRFALPKFGVRG
                     RDTEAAELVPGVAELEGKGWGWDGRVKMPKLKMPSFGLARGKEAEVQGDRASPGEKAE
                     STAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSGLKVSTARQVVTEGHDAGLRMP
                     PLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVAGGEL
                     LVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEGAE
                     EQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGA
                     EEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRL
                     PRVGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVR
                     LPSVGFSETGAPGPARMEGAQAAAV"
     variation       575
                     /gene="PRX"
                     /replace="t"
     variation       1485
                     /gene="PRX"
                     /replace="a"
     variation       1752
                     /gene="PRX"
                     /replace="c"
     variation       1760
                     /gene="PRX"
                     /replace="g"
     variation       2914
                     /gene="PRX"
                     /replace="c"
     variation       3072
                     /gene="PRX"
                     /replace="g"
     variation       3517
                     /gene="PRX"
                     /replace="g"
     variation       3663
                     /gene="PRX"
                     /replace="g"
     variation       4044
                     /gene="PRX"
                     /replace="a"
     variation       4343..4347
                     /gene="PRX"
                     /replace="gg"
     variation       4500
                     /gene="PRX"
                     /replace="t"
BASE COUNT          973 a         1371 c         1703 g          806 t
ORIGIN      
        1 gctctcgagg tgtctggagg ctcagcgagc gccggaccca ggaggcccaa ggagctggag
       61 gtgaccctca ggcagcaaga accccacgga agggcgtgag ccctgcagac agctgtgcgg
      121 cacctcgggc tgggctcctg ttaggaggaa gtgcctgcac ccaggcagcg gctcagaggc
      181 agctgctcca tgcagaactg aagctggttc tgcagcagaa aggggagagg acacaggagc
      241 ctggggtgca ggtgcctccc agcaacgcca tggaggccag gagccggagt gccgaggagc
      301 tgaggcgggc ggagttggtg gaaattatcg tggagacgga ggcgcagacc ggggtcagcg
      361 gcatcaacgt agcgggcggc ggcaaagagg gaatcttcgt tcgggagctg cgcgaggact
      421 cacccgccgc caggagcctc agcctgcagg aaggggacca gctgctgagt gcccgagtgt
      481 tcttcgagaa cttcaagtac gaggacgcac tacgcctgct gcaatgcgcc gagccttaca
      541 aagtctcctt ctgcctgaag cgcactgtgc ccaccgggga cctggctctg cggcccggga
      601 ccgtgtctgg ctacgagatc aagggcccgc gggccaaggt ggccaagctg aacatccaga
      661 gtctgtcccc tgtgaagaag aagaagatgg tgcctggggc tctgggggtc cccgctgacc
      721 tggcccctgt tgacgtcgag ttctcctttc ccaagttctc ccgcctgcgt cggggcctca
      781 aagccgaggc tgtcaagggt cctgtcccgg ctgcccctgc ccgccggcgc ctccagctgc
      841 ctcggctgcg tgtacgagaa gtggccgaag aggctcaggc agcccggctg gccgccgccg
      901 ctcctccccc caggaaagcc aaggtggagg ctgaggtggc tgcaggagct cgtttcacag
      961 cccctcaggt ggagctggtt gggccgcggc tgccaggggc ggaggtgggt gtcccccagg
     1021 tctcagcccc caaggctgcc ccctcagcag aggcagctgg tggctttgcc ctccacctgc
     1081 caacccttgg gctcggagcc ccggctccgc ctgctgtgga ggccccagcc gtgggaatcc
     1141 aggtccccca ggtggagctg cctgccttgc cctcactgcc cactctgccc acacttccct
     1201 gcctagagac ccgggaaggg gctgtgtcgg tagtggtgcc caccctggat gtggcagcac
     1261 cgactgtggg ggtggacctg gccttgccgg gtgcagaggt ggaggcccgg ggagaggcac
     1321 ctgaggtggc cctgaagatg ccccgcctta gttttccccg atttggggct cgagcaaagg
     1381 aagttgctga ggccaaggta gccaaggtca gccctgaggc cagggtgaaa ggtcccagac
     1441 ttcgaatgcc cacctttggg ctttccctct tggagccccg gcccgctgct cctgaagttg
     1501 tagagagcaa gctgaagctg cccaccatca agatgccctc ccttggcatc ggagtgtcag
     1561 ggcccgaggt caaggtgccc aagggacctg aagtgaagct ccccaaggct cctgaggtca
     1621 agcttccaaa agtgcccgag gcagcccttc cagaggttcg actcccagag gtggagctcc
     1681 ccaaggtgtc agagatgaaa ctcccaaagg tgccagagat ggctgtgccg gaggtgcggc
     1741 ttccagaggt agagctgccc aaagtgtcag agatgaaact cccaaaggtg ccagagatgg
     1801 ctgtgccgga ggtgcggctt ccagaggtac agctgctgaa agtgtcggag atgaaactcc
     1861 caaaggtgcc agagatggct gtgccggagg tgcggcttcc agaggtacag ctgccgaaag
     1921 tgtcagagat gaaactccca gaggtgtcag aggtggctgt gccagaggtg cggcttccag
     1981 aggtgcagct gccgaaagtg ccagagatga aagtccctga gatgaagctt ccaaaggtgc
     2041 ctgagatgaa acttcctgag atgaaactcc ctgaagtgca actcccgaag gtgcccgaga
     2101 tggccgtgcc cgatgtgcac ctcccagaag tgcagcttcc aaaagtccca gagatgaagc
     2161 tccctgagat gaaactccct gaggtgaaac tcccgaaggt gcccgagatg gctgtgcccg
     2221 atgtgcacct cccggaagtg cagctcccga aagtcccaga gatgaaactc cctaaaatgc
     2281 ctgagatggc tgtgccagag gttcgactcc ccgaggtgca gctgccaaaa gtctcagaga
     2341 tgaaactccc caaggtgcct gaaatggccg tgcccgatgt gcacctccca gaggtgcagc
     2401 tgcccaaagt ctgtgaaatg aaagtccctg acatgaagct cccagagata aaactcccca
     2461 aggtgcctga gatggctgtg cccgatgtgc acctccccga ggtgcagctg ccgaaagtgt
     2521 cagagattcg gctgccggaa atgcaagtgc cgaaggttcc cgacgtgcat cttccgaagg
     2581 caccagaggt gaagctgccc agggctccgg aggtgcagct aaaggccacc aaggcagaac
     2641 aggcagaagg gatggaattt ggcttcaaga tgcccaagat gaccatgccc aagctaggga
     2701 gggcagagtc cccatcacgt ggcaagccag gcgaggcggg tgctgaggtc tcagggaagc
     2761 tggtaacact tccctgtctg cagccagagg tggatggtga ggctcatgtg ggtgtcccct
     2821 ctctcactct gccttcagtg gagctagacc tgccaggagc acttggcctg caggggcagg
     2881 tcccagccgc taaaatgggc aagggagagc gggtggaggg ccctgaggtg gcagcagggg
     2941 tcagggaagt gggcttccga gtgccctctg ttgaaattgt caccccacag ctgcccgccg
     3001 tggaaattga ggaagggcgg ctggagatga tagagacaaa agtcaagccc tcttccaagt
     3061 tctccttacc taagtttgga ctctcggggc caaaggtggc taaggcagag gctgaggggg
     3121 ctgggcgagc taccaagctg aaggtatcca aatttgccat ctcactcccc aaggctcggg
     3181 tgggggctga ggctgaggcc aaaggggctg gggaggcagg cctgctgcct gccctcgatc
     3241 tgtccatccc acagctcagc ctggatgccc acctgccctc aggcaaggta gaggtggcag
     3301 gggccgacct caagttcaag gggcccaggt ttgctctccc caagtttggg gtcagaggcc
     3361 gggacactga ggcagcagaa ctagtgccag gggtggctga gttggagggc aagggctggg
     3421 gctgggatgg gagggtgaag atgcccaagc tgaagatgcc ttcctttggg ctggctcgag
     3481 ggaaggaagc agaagttcaa ggtgatcgtg ccagcccggg ggaaaaggct gagtccaccg
     3541 ctgtgcagct taagatcccc gaggtggagc tggtcacgct gggcgcccag gaggaaggga
     3601 gggcagaggg ggctgtggcc gtcagtggaa tgcagctgtc aggcctgaag gtgtccacag
     3661 ccaggcaggt ggtcactgag ggccatgacg cggggctgag gatgcctccg ctgggcatct
     3721 ccctgccaca ggtggagctg accggctttg gggaggcagg taccccaggg cagcaggctc
     3781 agagtacagt cccttcagca gagggcacag caggctacag ggttcaggtg ccccaggtga
     3841 ccctgtctct gcctggagcc caggttgcag gtggtgagct gctggtgggt gagggtgtct
     3901 ttaagatgcc caccgtgaca gtgccccagc ttgagctgga cgtggggcta agccgagagg
     3961 cacaggcggg cgaggcggcc acaggcgagg gtgggctgag gctgaagttg cccacactgg
     4021 gggccagagc tagggtgggg ggcgagggtg ctgaggagca gcccccaggg gccgagcgta
     4081 ccttctgcct ctcactgccc gacgtggagc tctcgccatc cgggggcaac catgccgagt
     4141 accaggtggc agagggggag ggagaggccg gacacaagct caaggtacgg ctgccccggt
     4201 ttggcctggt gcgggccaag gagggggccg aggagggtga gaaggccaag agccccaaac
     4261 tcaggctgcc ccgagtgggc ttcagccaaa gtgagatggt cactggggaa gggtccccca
     4321 gccccgagga ggaggaggag gaggaggaag agggcagtgg ggaaggggcc tcgggtcgcc
     4381 ggggccgggt ccgggtccgc ttgccacgtg taggcctggc ggccccttct aaagcctctc
     4441 gggggcagga gggcgatgca gcccccaagt cccccgtcag agagaagtca cccaagttcc
     4501 gcttccccag ggtgtcccta agccccaagg cccggagtgg gagtggggac caggaagagg
     4561 gtggattgcg ggtgcggctg cccagcgtgg ggttttcaga gacaggggct ccaggcccgg
     4621 ccaggatgga gggggctcag gctgcggctg tctgaagccc ctagtcagat ggggatccct
     4681 tcttgccttc ctttctctac cccctcgctg ttgtgtgtgt gataactagc actaacccta
     4741 agagggccgg gaggtgggtg actgaccagg gctggcaggg aggcctgctc ctgtctctct
     4801 ggcaggagtg cctgtacccc accaagccat gtgaataaaa taatctggaa gta
//