De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Basement Membrane / metabolism
  • Child
  • Collagen / genetics*
  • DNA
  • DNA Mutational Analysis
  • Glutamates / genetics*
  • Glutamic Acid
  • Glycine / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Nephritis, Hereditary / genetics*
  • Polymerase Chain Reaction

Substances

  • Glutamates
  • Glutamic Acid
  • Collagen
  • DNA
  • Glycine

Associated data

  • GENBANK/S59334
  • GENBANK/S81123
  • GENBANK/S81124
  • GENBANK/S81125
  • GENBANK/S81126
  • GENBANK/S81127
  • GENBANK/S81128
  • GENBANK/S81129
  • GENBANK/S81130
  • GENBANK/S81131