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 //