Predictions of the applied in silico tools.
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posted on 2022-09-19, 17:30 authored by Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke HinneyAll 75 non-synonymous and LoF variants located in LEP were analysed with SIFT, PolyPhen2, MutationTaster2021, FATHMM-MKL and PROVEAN. Unless MutationTaster2021, all tools were unable to predict implications of the seven LoF variants (grey).
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predicting functional implicationsexome aggregation consortiumfunctionally relevant variantsdeleterious leptin variantfunction leptin variantsputatively pathogenic variantsleptin gene leadsleast two toolsgeneral population usingdiv >< ppathogenic leptin variantspathogenic variantsleptin genegeneral populationleptin mutationspathogenic predictionstudy emphasisessilico present studymonogenic formlow frequencylike siftgreater riskfindings utilizingeast asiadatabase reportedconsanguineous families7 loss68 non
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