LOCUS       S59334                    54 bp    mRNA    linear   HUM 23-JUL-1993
DEFINITION  COL4A5=collagen type IV alpha 5 chain [human, Alport syndrome
            patient, mRNA Partial Mutant, 54 nt].
ACCESSION   S59334
VERSION     S59334.1
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 54)
  AUTHORS   Renieri,A., Seri,M., Myers,J.C., Pihlajaniemi,T., Massella,L.,
            Rizzoni,G. and De Marchi,M.
  TITLE     De novo mutation in the COL4A5 gene converting glycine 325 to
            glutamic acid in Alport syndrome
  JOURNAL   Hum. Mol. Genet. 1 (2), 127-129 (1992)
   PUBMED   1363780
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 130797] from the original journal article.
COMMENT     substitution of a glutamic acid for a glycine residue at position
            325.
FEATURES             Location/Qualifiers
     source          1..54
                     /db_xref="H-InvDB:HIT000215884"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..54
                     /gene="COL4A5"
                     /note="collagen type IV alpha 5 chain"
     CDS             1..54
                     /gene="COL4A5"
                     /note="collagen type IV alpha 5 chain"
                     /codon_start=1
                     /protein_id="AAD13909.1"
                     /translation="GLPGDPGYPGEPERDGEK"
BASE COUNT           12 a           10 c           19 g           13 t
ORIGIN      
        1 ggtttgcctg gtgatcctgg ttaccctggt gaacccgaaa gggatggtga aaag
//