Details of HEXA missense mutations detected in infantile TSD patients and in silico analysis.

DC = Disease causing, P = Polymorphism, IT = Intolerant, T = Tolerant, PD = Probably damaging RMSD = root mean square deviation.The MutationT@sterscore is taken from an amino acid substitution matrix (Grantham Matrix [3]) which takes into account the physico-chemical characteristics of amino acids and scores substitutions according to the degree of difference between the original and the new amino acid. Scores may range from 0.0 to 6.0.The SIFT score is the normalized probability that the amino acid change is tolerated and ranges from 0 to 1. The amino acid substitution is predicted damaging is the score is 0.05.The Polyphen2 score is the Naïve Bayes posterior probability that this mutation is damaging and thus ranges from 0 to 1.