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Table 1 Risk types and risk levels used for prioritization of variations

From: Functional analysis of novel SNPs and mutations in human and mouse genomes

Group Risk type Risk subtype Possible functional effect Risk level
Non-synonymous Non-sense   Causes premature stop codon and affects protein function Very High
Non-synonymous Mis-sense Non-conservative change Predicts to affect protein function High
Non-synonymous   Protein domain abolished Changes ESE, ESS and known protein domain and results in protein structure abolished High
Non-synonymous   Splicing regulation Changes ESE, ESS but does not change known protein domain and results in exon splicing regulation Medium
Non-synonymous   Conservative change Does not change ESE, ESS and known protein domain and results in analogous protein structure Low
Synonymous Splicing regulation Splicing regulation (protein domain abolished) Disrupts exon splicing regulation, make protein domain abolished High
Synonymous   Splicing regulation Disrupts exon splicing regulation, make the same protein domain Medium
Synonymous Sense   Does not change amino acid and disrupt exon splicing regulation Very Low
Non-coding Splice site   Alters GT-AG splice site High