Novel Mutations in MYH7
"As shown in Table 3 and Figure 2A, 9 of the 15 mutations found in MYH7 were novel. In silico analysis of the new mis-sense mutations was performed using a suite of bioinformatic tools. Analysis in SIFT, Pmut, PolyPhen, SNAP and PhDSNP revealed that for the E1555G mutation there was a consensus between the different bioinformatic tools to classify it as pathological. But, for 6 mutations (A355S, L427M, D587H, R1382Q, N1890S, and G1931C), at least 1 program did not predict a clear effect on protein function. Moreover, 2 of these were variants, R845K and A1637T, predicted to be neutral by all 5 methods."