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. 2011 Mar 30;6(3):e18380. doi: 10.1371/journal.pone.0018380

Table 2. Algorithm agreement for RET uncertain gene variants and predicted pathogenicity.

RET uncertain gene variant PSAAP Predictiona MutPred Predictionb PolyPhe Predictionc SIFT Predictiond PMut Predictione
5/5 agreement
A510VR600QK603QE632KA640GV648IY791NE843DR844LR844WR886WR912Q BenignBenignBenignBenignBenignBenignpathogenicbenignpathogenic pathogenic pathogenic pathogenic BenignBenignBenignBenignBenignBenigndisruptedBenigndisrupted disrupted disrupted disrupted BenignBenignBenignBenignBenignBenignprobably damagingbenignprobably damaging probably damaging probably damaging probably damaging Toleratedtoleratedtoleratedtoleratedtoleratedtoleratedaffects functiontoleratedaffects function affects function affects function affects function Neutralneutralneutralneutralneutralneutralpathologicalneutralpathological pathological pathological pathological
4/5 agreement
C611SD631GE805KS819IR833CS904CS904F pathogenic pathogenicbenignpathogenic pathogenic pathogenic pathogenic disruptedbenigndisrupted disruptedbenignbenignbenign Probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging Affects function affects function affects function affects function affects function affects function affects function neutralpathological pathologicalneutralpathological pathological pathological
3/5 agreement
Y606CC531RG533SD631AD631VR635GP841LL881VK907M pathogenic pathogenic pathogenic pathogenic pathogenic pathogenic pathogenicbenignpathogenic benignbenignbenignbenignbenignbenignbenigndisruptedbenign probably damaging probablydamaging probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging toleratedtoleratedaffects function affects function affects functiontoleratedtoleratedaffects function affects function pathological pathologicalneutralneutralneutral pathological pathologicalneutralneutral
2/5 agreement
C630SD631ES649LH665QR844QM848TI852MK907E pathogenicbenignpathogenicbenignbenignbenignbenignbenign benignbenignbenignbenignbenignbenignbenignbenign probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging probably damaging toleratedtoleratedtoleratedtoleratedtoleratedtoleratedaffects function affects function Neutralpathologicalneutralpathological pathological pathologicalneutralneutral
1/5 agreement
G321RE511KD631NA641SK666NR770QN777SV778IE818K benignbenignbenignbenignbenignbenignbenignbenignbenign benignbenignbenignbenignbenignbenignbenignbenignbenign benignbenignbenignpossibly damaging probably damaging probably damaging possibly damagingbenignpossibly damaging toleratedtoleratedtoleratedtoleratedtoleratedtoleratedtoleratedaffects functiontolerated pathological pathological pathologicalneutralneutralneutralneutralneutralneutral
a

Primary Sequence Amino Acid Properties (PSAAP) algorithm.

b

Analyzed with default settings at http://mutdb.org/mutpred.

c

Analyzed with default settings at http://genetics.bwh.harvard.edu/pph.

d

Analyzed with default settings at http://sift.jcvi.org.

e

Analyzed with default settings at http://mmb.pcb.ub.es/PMut.