De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.
Renieri
A
A
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
Seri
M
M
Myers
J C
JC
Pihlajaniemi
T
T
Massella
L
L
Rizzoni
G
G
De Marchi
M
M
D001483:Base Sequence; D001485:Basement Membrane / Q000378:metabolism; D002648:Child; D003094:Collagen / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D005971:Glutamates / Q000235:genetics*; D018698:Glutamic Acid; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D016133:Polymerase Chain Reaction
D005971:Glutamates; D018698:Glutamic Acid; D003094:Collagen; D004247:DNA; D005998:Glycine