To date, pathogenicity supported by segregation analyses has only been demonstrated for six LRRK2 mutations (p.Arg1441Cys, p.Arg1441Gly, p.Tyr1699Cys, p.Gly2019Ser, and p.Ile2020Thr).
Nonetheless, the lack of segregation data, the nonexistence of functional data for this variant and the in silico prediction by PolyPhen of non-pathogenicity, support a benign outcome for this genetic change in AD pathogenicity.
Of these, p.K616del pathogenicity is supported by the AC fulfillment, MSI and IHC data, whereas p.V612del pathogenicity is supported by only the AC fulfillment.
The families were built with no prior knowledge about the known function of their members, thus recovering a strong association of well-established virulence factors with blindly-built pathogenicity families supports the validity of the approach.
In Europe, pathogenicity experiments supported quantitative specialization of the V. inaequalis population from the agro-ecosystem.
Of the remaining 36 families, the pathogenicity was supported in 21 by a full segregation in available relatives.
We report natural EHV-9 infection and resultant disease in an ursid and 2 equid species, confirming the virus' promiscuity and pathogenicity and supporting its natural residence in wild equids.
The functional analysis did not support pathogenicity of this variant.
Significant co-segregation of a variant with disease provides evidence to support pathogenicity.
4 The Norwegian study presented in vitro evidence to support pathogenicity of the variants (but no familial evaluation).
We found that variants were listed occasionally as mutations or known pathogenic alleles in LSDBs without published evidence of segregation with disease or functional assays to support pathogenicity.
