LOCUS       S68531                   486 bp    mRNA    linear   HUM 23-SEP-1994
DEFINITION  COL10A1=type X collagen alpha 1 chain {C-terminal} [human,
            metaphyseal chondrodysplasia type Schmid patient, mRNA Partial
            Mutant, 486 nt].
ACCESSION   S68531
VERSION     S68531.1
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 486)
  AUTHORS   Wallis,G.A., Rash,B., Sweetman,W.A., Thomas,J.T., Super,M.,
            Evans,G., Grant,M.E. and Boot-Handford,R.P.
  TITLE     Amino acid substitutions of conserved residues in the
            carboxyl-terminal domain of the alpha 1(X) chain of type X collagen
            occur in two unrelated families with metaphyseal chondrodysplasia
            type Schmid
  JOURNAL   Am. J. Hum. Genet. 54 (2), 169-178 (1994)
   PUBMED   8304336
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 143338] from the original journal article.
COMMENT     Tyr598 to Asp transition.
FEATURES             Location/Qualifiers
     source          1..486
                     /db_xref="H-InvDB:HIT000216253"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..486
                     /gene="COL10A1"
                     /note="type X collagen alpha 1 chain, alpha 1(X)"
     CDS             1..486
                     /gene="COL10A1"
                     /note="alpha 1(X)"
                     /codon_start=1
                     /product="type X collagen alpha 1 chain"
                     /protein_id="AAC60615.1"
                     /translation="VMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYP
                     AIGTPIPFDKILYNRQQHYDPRTGIFTCQIPGIYDFSYHVHVKGTHVWVGLYKNGTPV
                     MYTYDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAP
                     M"
BASE COUNT          129 a          119 c          106 g          132 t
ORIGIN      
        1 gtcatgcctg agggttttat aaaggcaggc caaaggccca gtctttctgg gacccctctt
       61 gttagtgcca accagggggt aacaggaatg cctgtgtctg cttttactgt tattctctcc
      121 aaagcttacc cagcaatagg aactcccata ccatttgata aaattttgta taacaggcaa
      181 cagcattatg acccaaggac tggaatcttt acttgtcaga taccaggaat atacgatttt
      241 tcataccacg tgcatgtgaa agggactcat gtttgggtag gcctgtataa gaatggcacc
      301 cctgtaatgt acacctatga tgaatacacc aaaggctacc tggatcaggc ttcagggagt
      361 gccatcatcg atctcacaga aaatgaccag gtgtggctcc agcttcccaa tgccgagtca
      421 aatggcctat actcctctga gtatgtccac tcctctttct caggattcct agtggctcca
      481 atgtga
//