Mutation Patterns in Human Menin

Abstract

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.