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. Author manuscript; available in PMC: 2017 Oct 31.
Published in final edited form as: Hum Genet. 2016 Sep 28;135(12):1399–1409. doi: 10.1007/s00439-016-1731-1

Table 1.

Novel variants in PPP1CB and pathogenicity predictions

Chr Position Ref Alt Amino Acid Change AAChange.refgene SIFT_pred Polyphe n2_pred Mutation Taster_pred MetaSVM_pred CADD_phred GERP++_RS
2 28999810 C G p.Pro49Arg PPP1CB:NM_002709:exo n2:c.C146G:p.P49R,PPP1 CB:NM_206876:exon3:c. C146G:p.P49R D D D D 24.7 4.49
2 29006800 A C p.Glu183Ala PPP1CB:NM_002709:exo n5:c.A548C:p.E183A,PPP 1CB:NM_206876:exon6: c.A548C:p.E183A D B D T 24.5 5.87
2 29006800 A T p.Glu183Val PPP1CB:NM_002709:exo n5:c.A548T:p.E183V,PPP 1CB:NM_206876:exon6: c.A548T:p.E183V D B D T 29.8 5.87
2 29016738 G T p.Asp252Tyr PPP1CB:NM_002709:exo n7:c.G754T:p.D252Y,PPP 1CB:NM_206876:exon8: c.G754T:p.D252Y D D D D 25.8 5.13
2 29016804 G A p.Glu274Lys PPP1CB:NM_002709:exo n7:c.G820A:p.E274K,PPP 1CB:NM_206876:exon8: c.G820A:p.E274K D P D T 26.1 5.31