Research Article
A Novel Constitutively Active , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization
Table 1
In silico analysis of RAB11A variants found in the present case and previously reported cases.
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The variant found in our study is highlighted in gray. Locations of variants are annotated based on NM_004663.5. Small_GTP-bd_dom: small GTP-binding protein domain. Reported in reference [11], reported in reference [10], and reported in reference [12]. gnomAD v2.1.1 (http://gnomad.broadinstitute.org/) and SIFT (sorting intolerant from tolerant, https://sift.bii.a-star.edu.sg/): indicate that substitutions are predicted to be intolerant. Polyphen-2 (polymorphism phenotyping v2, http://genetics.bwh.harvard.edu/pph2/): scores are evaluated as 0.000 (most probably benign) to 0.999 (most probably damaging). CADD (combined annotation–dependent depletion, http://cadd.gs.washington.edu/score): PHRED scores of 10–20 and >20 are regarded as deleterious and the top 1% most deleterious, respectively. M-CAP (Mendelian clinically applicable pathogenicity, http://bejerano.stanford.edu/mcap/index.html): it correctly dismisses 60% of rare, missense variants of uncertain significance in a typical genome at 95% sensitivity. Scores of >0.025 are regarded as possibly pathogenic. MutationTaster (http://www.mutationtaster.org/): rapid evaluation of DNA sequence alterations. The alterations are classified as disease-causing or polymorphisms. Probability value is shown. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||