LOCUS       AF458029                1209 bp    mRNA    linear   HUM 27-MAY-2003
DEFINITION  Homo sapiens mutant I beta-1,6-N-acetylglucosaminyltransferase C
            form mRNA, complete cds.
ACCESSION   AF458029
VERSION     AF458029.1
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 1209)
  AUTHORS   Yu,L.C., Twu,Y.C., Chou,M.L., Reid,M.E., Gray,A.R., Moulds,J.M.,
            Chang,C.Y. and Lin,M.
  TITLE     The molecular genetics of the human I locus and molecular
            background explain the partial association of the adult i phenotype
            with congenital cataracts
  JOURNAL   Blood 101 (6), 2081-2088 (2003)
   PUBMED   12424189
REFERENCE   2  (bases 1 to 1209)
  AUTHORS   Yu,L.-C., Twu,Y.-C., Chou,M.-L. and Lin,M.
  TITLE     Direct Submission
  JOURNAL   Submitted (13-DEC-2001) Medical Research, Mackay Memorial Hospital,
            45 Min-San Road, Tamshui, Taipei 251, Taiwan
FEATURES             Location/Qualifiers
     source          1..1209
                     /db_xref="H-InvDB:HIT000079968"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24"
     CDS             1..1209
                     /note="results in adult i phenotype"
                     /codon_start=1
                     /product="mutant I
                     beta-1,6-N-acetylglucosaminyltransferase C form"
                     /protein_id="AAM73869.1"
                     /translation="MNFWRYCFFAFTLLSVVIFVRFYSSQLSPPKSYEKLNSSSERYF
                     RKTACNHALEKMPVFLWENILPSPLRSVPCKDYLTQNHYITSPLSEEEAAFPLAYVMV
                     IHKDFDTFERLFRAIYMPQNVYCVHVDEKAPAEYKESVRQLLSCFQNAFIASKTESVV
                     YAGISRLQADLNCLKDLVASEVPWKYVINTCGQDFPLKTNREIVQHLKGFKGKNITPG
                     VLPPDHAIKRTKYVHQEHTDKGGFFVKNTNILKTSPPHQLTIYFGTAYVALTREFVDF
                     VLRDQRAIDLLQWSKDTYSPDEHFWVTLNRVSGVPGSMPNASWTGNLRAIKWSDMEDR
                     HGGCHGHYVHGICIYENGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQS
                     ETAIQPSWYF"
     variation       1049
                     /replace="g"
BASE COUNT          340 a          272 c          267 g          330 t
ORIGIN      
        1 atgaactttt ggaggtactg cttttttgct ttcactctgc tcagcgtggt catttttgtg
       61 agattttaca gtagccaatt gagcccgcca aaaagttatg agaagctgaa cagttccagt
      121 gaaaggtatt ttaggaaaac tgcctgtaat cacgccttag agaaaatgcc agtctttttg
      181 tgggaaaata tattaccatc acctttgcga agtgtccctt gcaaggatta cctgacccag
      241 aatcactaca tcacaagtcc cctgtcggaa gaagaggctg cattcccttt ggcctatgtc
      301 atggtcatcc ataaggactt tgacaccttt gaaaggctct ttagggctat ctatatgccc
      361 caaaatgtct actgtgttca cgtggatgag aaagccccag ctgagtataa ggaatctgtg
      421 aggcagttac tgagttgctt ccaaaatgct ttcattgctt caaagacaga gtctgtggtt
      481 tatgcaggca tttccagact ccaggctgac ctgaactgtc tgaaagacct tgtcgcctct
      541 gaggttccct ggaagtacgt catcaacacc tgtggacaag acttccccct gaaaaccaac
      601 cgggagatag ttcagcatct gaaaggattt aaagggaaaa atatcacccc aggggtgctg
      661 cctcctgacc atgcaattaa gcgaactaaa tatgtccacc aagagcatac agataaaggt
      721 ggcttttttg tgaaaaatac taatattttg aaaacttcac ctccacatca gctgaccatc
      781 tactttggca ctgcctatgt ggcgcttacc agagagtttg tcgactttgt tctacgtgac
      841 caaagggcca ttgatctact acaatggtca aaagatacct atagtcctga tgagcatttc
      901 tgggtgacac ttaatagggt ttcaggtgtt cctggctcta tgccaaatgc atcctggact
      961 ggaaacctca gagctataaa gtggagtgac atggaagaca gacacggagg ctgccacggc
     1021 cactatgtac atggtatttg tatctatgaa aacggagact taaagtggct ggttaattca
     1081 ccaagcctgt ttgctaacaa gtttgagctt aatacctacc cccttactgt ggaatgccta
     1141 gaactgaggc atcgcgaaag aaccctcaat cagagtgaaa ctgcgataca acccagctgg
     1201 tatttttga
//