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 |
Primary Sequence Amino Acid Properties (PSAAP) algorithm.
Analyzed with default settings at http://mutdb.org/mutpred.
Analyzed with default settings at http://genetics.bwh.harvard.edu/pph.
Analyzed with default settings at http://sift.jcvi.org.
Analyzed with default settings at http://mmb.pcb.ub.es/PMut.