TABLE 3.

List of recurrent pathogenic frameshift mutation and their degron motif.

E3 ligase-binding motifs			Mutation
N-terminus	Internal	C-terminus
Ac/N degron; motif recognized by Teb4 and Not4 E3 ligases	SPOP, APC/C (ABBA, KEN, DBOX), SCF-TRCP1 recognition motifs	—	p.His3951ProfsTer4
		—	p.Arg3272AsnfsTer118
		APC/C motif	p.Ala3094HisfsTer37
		—	p.Ser2649ValfsTer94
		Motif R at -3, likely CRL substrate	p.Thr2496AsnfsTer104
		—	p.Gln2423ValfsTer2
		—	p.Ser2366ArgfsTer52
		—	p.His1897ProfsTer198
		—	p.Glu1605ThrfsTer103
		—	p.Ser1595ArgfsTer110
		—	p.Ser1235HisfsTer211
	SPOP, APC/C (ABBA, KEN), SCF-TRCP1 recognition motifs	—	p.Ser1171GlnfsTer15
		—	p.Gly1109GlufsTer13
		Destabilizing motif VxT	p.Gln1084ValfsTer21
		—	p.Ser761CysfsTer36
	SPOP, APC/C (ABBA, KEN) recognition motifs	—	p.Asp433HisfsTer43
		Motif R at −3, likely CRL substrate	p.Ser417ValfsTer2
	APC/C (ABBA, KEN) recognition motifs	—	p.Ser249LysfsTer10
		Motif -EE end, likely CRL substrate	p.Gly221GlufsTer3
		—	p.Asn186LysfsTer4
		—	p.Glu160ArgfsTer10
		—	p.Arg130GlufsTer6