Article
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
Human mutation - 1 Jul 2017
Schaafsma Gerard C P, Vihinen Mauno
Abstract excerpt
Genes and proteins are known to have differences in their sensitivity to alterations. Despite numerous sequencing studies, proportions of harmful and harmless substitutions are not known for proteins and groups of proteins. To address this question, we predicted the outcome for all possible single amino acid substitutions (AASs) in nine representative protein groups by using the PON-P2 method. The effects on 996...
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