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 //