Probable effects of splice site mutations using HSF 2.4.1 and Mutation Taster and effects of missense mutations using PolyPhen and SIFT.

NA-not applicable The human splice finder presents consensous value (CV) which indicate strength of the splice site range from 0 to 100. The splice sites of CV higher than 80 are considered as strong splice sites, 70–80 as less strong and 65–70 as weak, and a CV below 70 is considered to be non-functional [41]. The mutation taster (MT) scores the wild type and the mutant and a confidence score of >0.3 for the mutant indicates gain of completely new splice site [43]. Probable effects of splice site mutations using HSF 2.4.1 and Mutation Taster and effects of missense mutations using PolyPhen and SIFT.