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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
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BMC Medicine

ISSN: 1741-7015

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