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. 2021 May 29;22(1):564. doi: 10.3892/ol.2021.12825

Table I.

Leucine zipper-like transcription regulator 1 mutations.

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.