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Description of the mutations of WT1 (NM_024426) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion

R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

SKU	Mutation Description	Affected Codon#	Affected NT#	Description	Effect
RC403435	S118X	118	353	C>A	Wilms tumour
RC403436	Q142X	142	424	C>T	Wilms tumour
RC403437	Y177X	177	531	C>A	Wilms tumour
RC403438	A199T	199	595	G>A	Hypospadias
RC403439	S233X	233	698	C>A	Wilms tumour
RC403440	P249S	249	745	C>T	Wilms tumour
RC403441	Q253X	253	757	C>T	Wilms tumour
RC403442	Y289X	289	867	C>G	Denys-Drash syndrome
RC403443	S291N	291	872	G>A	Wilms tumour
RC403444	W306X	306	917	G>A	Wilms tumour
RC403445	G321A	321	962	G>C	Wilms tumour
RC403446	Y339X	339	1017	C>G	Wilms tumour
RC403447	C350X	350	1050	C>A	Wilms tumour
RC403448	R363X	363	1087	A>T	Wilms tumour
RC403449	R369X	369	1105	C>T	Wilms tumour
RC403450	R380Q	380	1139	G>A	Diffuse mesangial sclerosis
RC403451	S381X	381	1142	C>A	Wilms tumour
RC403452	P390T	390	1168	C>A	Wilms tumour
RC403453	C398Y	398	1193	G>A	Denys-Drash syndrome
RC403454	L408X	408	1223	T>G	Wilms tumour
RC403455	Q409X	409	1225	C>T	Wilms tumour
RC403456	M410R	410	1229	T>G	Denys-Drash syndrome
RC403457	C423Y	423	1268	G>A	Denys-Drash syndrome
RC403458	C423G	423	1267	T>G	Wilms tumour
RC403459	C428Y	428	1283	G>A	Denys-Drash syndrome
RC403460	C428G	428	1282	T>G	Denys-Drash syndrome
RC403461	R430X	430	1288	C>T	Denys-Drash syndrome
RC403462	F432L	432	1294	T>C	Nephrotic syndrome
RC403463	R434H	434	1301	G>A	Denys-Drash syndrome
RC403464	R434L	434	1301	G>T	Denys-Drash syndrome
RC403465	R434C	434	1300	C>T	Denys-Drash syndrome
RC403466	Q437H	437	1311	G>T	Denys-Drash syndrome
RC403467	Q437P	437	1310	A>C	Denys-Drash syndrome
RC403468	Q437X	437	1309	C>T	Wilms tumour
RC403469	H441Q	441	1323	C>G	Denys-Drash syndrome
RC403470	H441Y	441	1321	C>T	Denys-Drash syndrome
RC403471	H445R	445	1334	A>G	Denys-Drash syndrome
RC403472	H445Y	445	1333	C>T	Denys-Drash syndrome
RC403473	G447C	447	1339	G>T	Nephrotic syndrome
RC403474	P450S	450	1348	C>T	Nephrotic syndrome?
RC403475	F451L	451	1351	T>C	Diffuse mesangial sclerosis
RC403476	C453R	453	1357	T>C	Denys-Drash syndrome
RC403477	C456F	456	1367	G>T	Denys-Drash syndrome
RC403478	C456Y	456	1367	G>A	Denys-Drash syndrome
RC403479	C456R	456	1366	T>C	Nephrotic syndrome
RC403480	Q457X	457	1369	C>T	Renal dysfunction & renal blastema
RC403481	R458X	458	1372	C>T	Wilms tumour
RC403482	F460L	460	1380	C>G	Focal segmental glomerulosclerosis
RC403483	F460L	460	1378	T>C	Frasier syndrome
RC403484	R462L	462	1385	G>T	Wilms tumour
RC403485	R462P	462	1385	G>C	Denys-Drash syndrome
RC403486	R462Q	462	1385	G>A	Denys-Drash syndrome
RC403487	R462W	462	1384	C>T	Denys-Drash syndrome
RC403488	D464G	464	1391	A>G	Denys-Drash syndrome
RC403489	D464Y	464	1390	G>T	Denys-Drash syndrome
RC403490	D464N	464	1390	G>A	Denys-Drash syndrome
RC403491	H465P	465	1394	A>C	Nephrotic syndrome
RC403492	L466P	466	1397	T>C	Denys-Drash syndrome
RC403493	H469R	469	1406	A>G	Nephrotic syndrome
RC403494	H469Y	469	1405	C>T	Denys-Drash syndrome
RC403495	H473R	473	1418	A>G	Denys-Drash syndrome
RC403496	X518W	518	1554	A>G	Wilms tumour

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Description of the mutations of WT1 (NM_024426) Mutants