Table 5.

Examples of the functional variants located in sequence features perturbing diverse functional and structural effects in proteins

Variant location	Description	URL
Protein domain	DMDM: A database that compiles domain mapping of disease mutations have information about 202 507 mutations associated with 10 919 domains (compiled from CDD, Pfam, COG and SMART databases).	http://bioinf.umbc.edu/dmdm/
Phosphorylation site	Mutation of an AKT phosphorylation site of human B-raf.	http://www.ncbi.nlm.nih.gov/pubmed/15791648
Propeptide	Mutation in the von Willebrand factor (VWF) propeptide affects the oligomerization.	http://www.ncbi.nlm.nih.gov/pubmed/20335223
Signal peptide	Mutation in signal peptide of ADAMTS10 influence secretion of full-length enzyme.	http://www.ncbi.nlm.nih.gov/pubmed/18567016
Active site	Mutation in the active site of human deoxycytidine kinase affects the substrate specificity.	http://www.ncbi.nlm.nih.gov/pubmed/18361501
Linear motif	Linear motifs mediate functional diversity of transcript variants.	http://www.ncbi.nlm.nih.gov/pubmed/22638587
Structural motif	Heterozygous missense mutation of a spatially distributed structural motif in human connexin ( GJB3 ) gene cause erythrokeratodermia variabilis.	http://www.ncbi.nlm.nih.gov/pubmed/9843209
Subcellular localization	Missense mutations in the NPHS2 gene altering the trafficking of nephrin to the plasma membrane.	www.ncbi.nlm.nih.gov/pubmed/15496146