TABLE 1

Variants identified in 94 type 1 diabetic case subjects who were homozygous for the 1858C allele in PTPN22

SNPPositionNucleotide change*Amino acid changedbSNPExonObserved on DHPLC
IVS2–4114113746A>G1
IVS3–36114113273C>Trs121741842
IVS3–32114113269A>C1
658114109596A>GS220G81
IVS9+112114109023T>A2
1508114092556A>GY503C131
IVS14–32114089135C>Trs279741535
IVS17+43114084570A>Crs376193530
IVS17+47114084566T>C4
2250114084256G>CK750N182
IVS20+81114074160T>A3
  • *

    * Nucleotide changes were identified by sequencing samples that showed a heteroduplex elution pattern on DHPLC analysis;

  • number of times a heteroduplex elution pattern was observed in 94 samples that were screened for the indicated exon.