December 2017


C4A is part of a “complement” group. The term complement means it is able to kill bacteria and contributes to immune defenses. However, if there are too many compliments, it can cause tissue damage and trigger an allergic reaction. C4A is an activation protein, which means it also activates the other complement proteins to increase in level. The C3a, C4a, and C5a components are referred to as anaphylatoxins: they cause smooth muscle contraction, histamine release from mast cells, and enhanced vessel permeability. They also mediate inflammation and the generation of free ...

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Protein function predictions

For human mutations that are predicted to result in an amino acid substitution we provide SIFT and PolyPhen predictions for the effect of this substitution on protein function. We compute the predictions for each of these tools for all possible single amino acid substitutions in the Ensembl human proteome. This means we can provide predictions for novel mutations for VEP and API users. We were able to compute predictions from at least one tool for over 95% of the human proteins in Ensembl. SIFT predictions are also available for chicken, cow, dog, horse, mouse, pig, rat sheep...

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Variant Consequences


For each variant that is mapped to the reference genome, we identify each Ensembl transcript that overlap the variant. We then use a rule-based approach to predict the effects that each allele of the variant may have on the transcript. The set of consequence terms, defined by the Sequence Ontology (SO), that can be currently assigned to each combination of an allele and a transcript is shown in the table below. Note that each allele of each variant may have a different effect in...

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