Supplementary Figure 12 : Comparative modeling of p.Phe1662Tyr indicates a tolerated substitution.

From: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Supplementary Figure 12

In fruit flies and zebrafish, the phenylalanine is replaced by a tyrosine at position 1662 of KMT2B. Based on the similar side chains for these amino acids, tyrosine can be accommodated instead of phenylalanine at position 1662 in KMT2B without disruption of the structure of the protein. Furthermore, the different prediction programs propose this substitution to be non-deleterious (PolyPhen-2, benign with a score of 0.005; SIFT, tolerated with a score of 1.000; PROVEAN, neutral with a score of 1.16).