Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer

Table 3 Distribution of single nucleotide polymorphism of hPMS2 gene in 26 probands

Exon	Nucleotide change	Amino acid change	n	SNP (%)
2	c.24-4C>T	-	14	78 (30)
	c.89A>C	Gln30Pro	15
	c.117A>G	Val39Val	15
	c.120G>A	Lys40Ly	4
	c.121G>A	Glu41Lys	15
	c.124T>A	Leu42Ile	8
4	c.288C>T	Ala96Ala	8	18 (6.9)
	c.295A>C	Thr99Pro	10
5	c.406A>G	Met136Val	10	60 (23.1)
	c.418A>G	Asn140Asp	10
	c.429T>C	Ile143Ile	10
	c.452G>A	Arg151His	10
	c.478C>A	Gln160Lys	10
	c.492C>T	Ser164Ser	10
11	c.1408C>T	Pro470Ser	7	24 (9.2)
	c.1454C>A	Thr485Lys	11
	c.2006+6G>A	-	7
12	c.2007-4G>A	-	11	12 (4.6)
	c.2007-7C>T	-	1
13	c.2253T>C	Phe751Phe	1	1 (0.4)
14	c.2324A>G	Asn775Ser	3	5 (1.9)
	c.2340C>T	Pro780Pro	2
15	c.2466T>C	Leu822Leu	12	36 (13.8)
	c.2570G>C	Gly857Ala	2
	c.92dupA	-	17
	c.17G>C	-	5

SNP: Single nucleotide polymorphism.