Table 2

Mutations and polymorphisms in the WFS1 gene

Family Exon Nucleotide change2-150 Amino acid change Type of mutation
181038ins(C)2-151 Ins346fs/ter542Frameshift/truncation
282315ins(T)Ins772fs/ter776Frameshift/truncation
282638-2643del(GACTTC)Del880-881DFIn frame deletion of 6 bp
281675G→A2-152 A559TMissense
1,281832A→GH611RConservative
18997A→GI333VConservative
16684G→CR228RPolymorphism
281023C→TF341FPolymorphism
1,281185T→CV395VPolymorphism
181500T→CN500NPolymorphism
281725C→TA575APolymorphism
282322G→AK774KPolymorphism
1,282433A→GK811KPolymorphism
182565G→AS855SPolymorphism
  • 2-150 Nucleotide positions are given counting from the first base of the start codon.

  • 2-151 Homozygous mutation.

  • 2-152 On the same allele as 2315ins(T).