From: GenBank-Updates@net.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: thyroid peroxidase {exons 8 and 9} [human, Genomic Mutant, 324 nt,
Date: 6 Jan 93 06:55:18 GMT
Distribution: bionet
Checksum: 52721 4

LOCUS       M247219S2     324 bp    DNA             PRI       03-DEC-1992
DEFINITION  thyroid peroxidase {exons 8 and 9} [human, Genomic Mutant, 324 nt,
            segment 2 of 2] 
ACCESSION   S46244
KEYWORDS    .
SEGMENT     2 of 2
SOURCE      human
  ORGANISM  Unclassified.
            Unclassified.
REFERENCE   1  (bases 1 to 324)
  AUTHORS   Abramowicz,M.J., Targovnik,H.M., Varela,V., Cochaux,P., Krawiec,L.,
            Pisarev,M.A., Propato,F.V., Juvenal,G., Chester,H.A. and Vassart,G.
  TITLE     Identification of a mutation in the coding sequence of the human
            thyroid peroxidase gene causing congenital goiter.
  JOURNAL   J. Clin. Invest. 90, 1200-1204 (1992)
  STANDARD  full automatic
COMMENT     This entry [NCBI gibbsq 115630] was created by the journal scanning
            component of NCBI/GenBank at the National Library of Medicine.
            This sequence comes from Fig. 2A.  Map location: 2pter-2p24.
FEATURES             Location/Qualifiers
     CDS             join(S46243:1..364,146..219)
                     /partial
                     /note="mismatch(73[Q->H]).  TPO;  For the protein sequence
                     (NCBI gibbsq 115631):  Method: conceptual translation
                     supplied by author.  This sequence comes from Fig. 2A.
                     Author-given protein sequence is in conflict with the
                     conceptual translation"
                     /product="thyroid peroxidase"
                     /codon_start=1
                     /translation="STVYGSSPALERQLRNWTSAEGLLRVHARLRDSGRAYLPFVPPR
                     APSACAPEPGIPGETRGPCFLAGDGRPRQRGPLPDGTAHAVAARAQPPGRGAQGPQCA
                     LERGRRVPGGAQGRGRSAPDHHPEGLHPQDPGTRGLPAVRGSL"
     CDS             join(S46243:61..364,270..324)
                     /partial
                     /note="DNA sequence shown is shorter than the authors'
                     translation; mismatch(399[Q->H])
                     insertions(464-473;473-482).  TPO;  For the protein
                     sequence (NCBI gibbsq 115632):  Method: conceptual
                     translation supplied by author.  This sequence comes from
                     Fig. 3.  The authors begin their numbering at 347.
                     Author-given protein sequence differs from the conceptual
                     translation for reasons explained in citation.
                     Author-given protein sequence is in conflict with the
                     conceptual translation"
                     /product="thyroid peroxidase"
                     /codon_start=1
                     /translation="EGLLRVHARLRDSGRAYLPFVPPRAPSACAPEPGIPGETRGPCF
                     LAGDGRPRQRGPLPDGTAHAVAARAQPPGRGAQGPQCALERGRRVPGGAQGRGRSAPA
                     AFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLR"
BASE COUNT       63 a    109 c     83 g     69 t
ORIGIN      
        1 gaagttcagc tgaggccctt attacaagac gagaagggtc cagttccctg gggctgtcaa
       61 ggaagatgct cttccacact gccgctcgag gcgaccctcc tctggtatcc tgggcctcac
      121 tgagatgctt ttcctatctg cacagatcat caccctgagg gattacatcc ccaggatcct
      181 gggacccgag gccttccagc agtacgtggg tccctatgaa ggctatgact ccaccgccaa
      241 ccccactgtg tccaacgtgt tctccacagc cgccttccgc ttcggccatg ccacgatcca
      301 cccgctggtg aggaggctgg acgc
//