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ALPORT Syndrome and COL4A5

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form (~80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (OMIM #301050) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5). The aim of this database is to record all known variants in the COL4A5 gene and their clinical significance. The GenBank sequence NC_000023.9 is used as the reference sequence. The Human Genome Variation Society nomenclature has been used to describe COL4A5 mutations, as well as original nomenclature described by Zhou et al (1994), which includes 202 nucleotides of 5' UTR. ARUP offers full gene sequencing analysis (test 0051786) for classic X-linked Alport syndrome (80% of mutations) and targeted testing for p.C1564S (c.4692G>A), p.L1649R (c.4946T>G), p.R1677Q (c.5232G>A) mutations for adult type Alport syndrome (test 0051710).

Mutation Database - Autosomal Recessive Polycystic Kidney Disease (ARPKD / PKHD1)"  info

Autosomal Recessive Polycystic Kidney Disease (ARPKD) or Polycystic Kidney and Hepatic Disease 1 (PKHD1) is an important cause of childhood renal- and liver-related morbidity and mortality with a proposed incidence of 1:20,000 - 1:40,000 live births.
This Database lists the mutations and polymorphisms of PKHD1.

Collecting Duct Phosphoprotein Database

This database of renal inner medullary collecting duct (IMCD) phosphoproteins is based on protein mass spectrometry data from the NHLBI Laboratory of Kidney and Electrolyte Metabolism. All data are from IMCD cells freshly purified from rat inner medullas.