Release date: 2012-03-29

This database holds currently 445574 missense variants,
among which 24379 are considered as disease-causing and 421195 as variant of unknown significance ( polymorphisms, unclassified variants)


(A) 58159 missense variants are recovered from UniProtKB.
(B) 424541 missense variants are recovered from dbSNP.
(C) 37209 missense variants are recovered from both UniProtKB and dbSNP.


This page encompasses statistics related to human missense variants. To date, these statistics concern:
-physico-chemical changes induced by the amino acid substitutions, -characteristics of the substituted positions (e.g. conservation, localisation in a secondary structure and/or functional domain).

Physico-Chemical properties of the substitution
Size Charge
disease-causing variant of unknown significance disease-causing variant of unknown significance
Polarity Hydrophobicity
disease-causing variant of unknown significance disease-causing variant of unknown significance
Modification score
disease-causing variant of unknown significance
Conservation
Typification Residue representation in the alignment
disease-causing variant of unknown significance disease-causing variant of unknown significance
Wild-type Mutant Wild-type Mutant
Localisation
In a secondary structure element?* In an annotated site?
disease-causing variant of unknown significance disease-causing variant of unknown significance
* Only for missense variants that can be mapped on a 3D model.
* variant of unknown significance = polymorphisms and unclassified variants.

Further statistics concerning structural characteristics of these missense variants will soon be provided...