Mutation Patterns in Human Menin
The menin is a tumour suppressor protein, whose deficiency is the cause of familial multiple endocrine neoplasia type Ⅰ (MEN1). To understand its mutation pattern is very helpful for managing its clinical manifest and outcome. The amino-acid pair predictability is used to transfer the symbolized human menin and its 99 missense point mutants to scalar data and classify the amino-acid pairs as predictable and unpredictable, in order to analyse the mutation pattern. The majority (81.81％) of substituted pairs are characterized by one or both pairs whose actual frequency larger than predicted one. 39.39％ of mutations bring out one or both substituting aminoacid pairs which are absent in normal human menin. 59.60％ of mutations lead to one or both substituting amino-acid pairs with their actual frequency smaller than predicted frequency. The results show that the mutation is highly likely to occur at the unpredictable amino-acid pairs, and the mutation has the trend to make an amino-acid pair approach predictable.
amino-acid pair menin MEN1 mutation probability
Shaomin Yan Guang Wu
Guangxi Academy of Sciences 98 Daling Road Nanning,Guangxi Province 530007,China DreamSciTech Consulting 301 Bldg 12,Nanyou A-zone,Jiannan Road Shenzhen,Guangdong Province 518054,Ch
国际会议
北京
英文
1-5
2009-06-11（万方平台首次上网日期，不代表论文的发表时间）