Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals.
Banno
Kouji
K
Susumu
Nobuyuku
N
Nozawa
Shiro
S
Sugano
Kokichi
K
D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D007564:Japan; D007930:Leucine / Q000235:genetics*; D007962:Leukocytes / Q000378:metabolism; D008715:Methionine / Q000235:genetics*; D018895:Microsatellite Repeats; D051718:MutS Homolog 2 Protein; D009154:Mutation; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics*; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*
D003062:Codon; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D007532:Isoleucine; D010649:Phenylalanine; D008715:Methionine; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein; D007930:Leucine