LOCUS       S66705                   385 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  P0=28 kda major peripheral myelin protein [human,
            Charcot-Marie-Tooth disease type 1B patient, mRNA PartialMutant,
            385 nt].
ACCESSION   S66705
VERSION     S66705.1
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 385)
  AUTHORS   Kulkens,T., Bolhuis,P.A., Wolterman,R.A., Kemp,S., te Nijenhuis,S.,
            Valentijn,L.J., Hensels,G.W., Jennekens,F.G., de Visser,M.,
            Hoogendijk,J.E. et al.
  TITLE     Deletion of the serine 34 codon from the major peripheral myelin
            protein P0 gene in Charcot-Marie-Tooth disease type 1B
  JOURNAL   Nat. Genet. 5 (1), 35-39 (1993)
   PUBMED   7693130
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 139302] from the original journal article.
COMMENT     deletion of Ser34.
FEATURES             Location/Qualifiers
     source          1..385
                     /db_xref="H-InvDB:HIT000216135"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..385
                     /gene="P0"
     CDS             42..383
                     /gene="P0"
                     /note="28 kda major peripheral myelin protein"
                     /codon_start=1
                     /product="P0"
                     /protein_id="AAB28708.1"
                     /translation="MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGS
                     RVTLHCSFWSSEWVSDDIFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVG
                     DPRWKDGSIVIH"
BASE COUNT           67 a          129 c          105 g           84 t
ORIGIN      
        1 caaccccaca gatgctccgg gcccctgccc ctgccccagc tatggctcct ggggctccct
       61 catccagccc cagccctatc ctggctgtgc tgctcttctc ttctttggtg ctgtccccgg
      121 cccaggccat cgtggtttac accgacaggg aggtccatgg tgctgtgggc tcccgggtga
      181 ccctgcactg ctccttctgg tccagtgagt gggtctcaga tgacatcttc acctggcgct
      241 accagcccga aggaggcaga gatgccattt cgatcttcca ctatgccaag ggacaaccct
      301 acattgacga ggtggggacc ttcaaagagc gcatccagtg ggtaggggac cctcgctgga
      361 aggatggctc cattgtcata cacaa
//