Skip to main content

Advertisement

Table 1 List of protein truncating variants identified in monogenic diabetes genes in which heterozygous protein truncating variants are known to be pathogenic for diabetes. None of the variants were present in the ExAC database

From: Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

    Counts   
Gene DNA change AA change Cases Early onset Controls dbSNP 144 ACMG classa
GCK c.871A > T p.K291* 1 1 0 rs193922335 5
GCK c.1340_1368del p.R447fs 1 1 0 4
GCK c.863 + 1G > T p.? 1 0 0 4
HNF1A c.994delG p.E332fs 1 1 0 4
HNF1A c.955 + 1G > T p.? 1 1 0 4
HNF1A c.1730_1733dupACCT p.Q579fs 1 0 0 4
HNF1B c.1005dupC p.H336fs 1 1 0 4
PPARG c.465delC p.H155fs 1 0 0 4
  1. Reference sequences: GCK, NM_000162; HNF1A, NM_000545; HNF1B, NM_000458; PPARG, NM_005037
  2. aACMG classification: 5 = pathogenic, 4 = likely pathogenic, and 3 = uncertain significance
  3. AA amino acid, ACMG American College of Medical Genetics, dbSNP Single Nucleotide Polymorphism Database