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 | Â | 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 | Â | Protein domain abolished | Changes ESE, ESS and known protein domain and results in protein structure abolished | High |
Non-synonymous | Â | Splicing regulation | Changes ESE, ESS but does not change known protein domain and results in exon splicing regulation | Medium |
Non-synonymous | Â | 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 | Â | Splicing regulation | Disrupts exon splicing regulation, make the same protein domain | Medium |
Synonymous | Sense | Â | Does not change amino acid and disrupt exon splicing regulation | Very Low |
Non-coding | Splice site | Â | Alters GT-AG splice site | High |