Skip to main content
. 2015 Aug 6;10(4):2239–2243. doi: 10.3892/ol.2015.3578

Table I.

Analysis of association between germline/somatic mutation sites and the remaining number of 20 amino acid repeats in reported cases.

Germline mutation Somatic mutation


Patient no. Cancerous lesion no. Mutation type Remaining numbers of 20-AARs Mutation type Remaining numbers of 20-AARs First author, year (ref.)
1   1 Codon 917 T deletion 0 Codon 728 AAT-AT; A deletion 0 Present study
2   2 Codon 1179–11817 bp deletion 0 Codon 607 T deletion 0
3   3 Codon 1483 C deletion 2 Codon 295 G deletion 0
4   4 Codon 554 CGA→TGA 0 Codon 308 deletion C 0 Uchino et al, 2006 (14)
  5 Codon 534 1602 deletion A 0
  6 Codon 607 1821 deletion T 0
  7 Codon 640 1920 deletion G 0
  8 Codon 902 2706 deletion 20 0
  9 Codon 935 2804 insertion A 0
5 10 Codon 175 C deletion 0 Codon 886, CAG→TAG 0 Miyaki et al, 2000 (13)
11 LOH 0
12 Codon 1536 GAA→TAA 3
13 LOH 0
14 Codon 1554–1556 A insertion 3
6 15 Codon 1110 TCA→TGA 0 Codon 857 GGA→TGA 0
16 Codon 1060–1063 AAAAC deletion 0

20-AARs, 20-amino acid repeats; LOH, loss of heterozygosity.