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 //