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. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669

Table 5. Predicted pathogenicity of germline and somatic variants in MAP3K6 observed in a Maritime Canadian family and probands from a screen of 115 FGC cases negative for CDH1 mutations.

Amino Acid Change PolyPhen2 PMut PROVEAN SIFT EvoD FATHMM* MutationTaster
D200Y Probably Damaging Neutral Deleterious Damaging Neutral Tolerated/Passenger Disease Causing
V207G Benign Neutral Neutral Tolerated Deleterious Tolerated/Passenger Polymorphism
H506Ya Possibly Damaging Neutral Neutral Damaging Deleterious Tolerated/Passenger Polymorphism
P946L Probably Damaging Pathological Neutral Tolerated Neutral Tolerated/Passenger Disease Causing
P958T Possibly Damaging Neutral Neutral Neutral Neutral Tolerated/Passenger N/A
p.F849Sfs*142 - - - - - - -

* FATHMM predictions for Missense Variants and Cancer-Associated Variants tools are both given.

a

The H506Y mutation is a somatic second-hit observed in FFPE tumor tissue from patient 1884.