Table I.
Disease | Mutation frequency in disease (%) | Mutations in Kelch domains | Mutations in BTB-BACK domains |
---|---|---|---|
Noonan syndrome | 8.0 | Arg97Leu, His121Asp, Tyr136Cys, Tyr136His, Asn145Ile, Arg170Trp, Ile205Thr, Arg210*, Glu217Ala, Ser244Cys, Ser247Asn, Gly248Arg, Arg284Cys, His287Tyr | Trp437*, Ala461Asp, Ile462Thr, Trp469*, Glu563Gln, Val579Met, Arg688Gly(Cys), Arg688Cys, Asp531Asn, Arg697Glu, Tyr749Cys, Arg755Gln, Ile821Thr |
Glioblastoma | 4.4 | Trp105Arg, Asp139Ala, Asn143Thr, Gly195Ser, Arg198Gly, Gly248Arg, Arg284Ser, Thr288Ile, G404Glu | Arg810Trp |
Schwannomatosis | 24.4 | His71Arg, Pro115Leu, Ser122Leu, Arg170Gln, Leu187Leu, Met202Arg, Arg284Cys, Gly285Arg, Met400Arg, Gly404Arg | Val456Gly, Arg466Gln(Trp), Pro520Leu, Met665Lys, Arg688His(Cys), Leu812Pro, Ser813Leu |
BACK, broad-complex, tramtrack, and bric-a-brac and C-terminal Kelch.