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 //