Home All Cancer Mutant Clones NOTCH3 Mutants

Description of the mutations of NOTCH3 (NM_000435) 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
RC402033	C43F	43	128	G>T	CADASIL
RC402034	C43G	43	127	T>G	CADASIL
RC402035	C49F	49	146	G>T	CADASIL
RC402036	C49Y	49	146	G>A	CADASIL
RC402037	C49G	49	145	T>G	CADASIL
RC402038	R54C	54	160	C>T	CADASIL
RC402039	S60C	60	179	C>G	CADASIL
RC402040	C65S	65	194	G>C	CADASIL
RC402041	C65Y	65	194	G>A	CADASIL
RC402042	C67Y	67	200	G>A	CADASIL
RC402043	W71C	71	213	G>T	CADASIL
RC402044	R75P	75	224	G>C	CADASIL
RC402045	C76W	76	228	T>G	CADASIL
RC402046	C76R	76	226	T>C	CADASIL
RC402047	C87Y	87	260	G>A	CADASIL
RC402048	C87R	87	259	T>C	CADASIL
RC402049	R90C	90	268	C>T	CADASIL
RC402050	C93F	93	278	G>T	CADASIL
RC402051	C93Y	93	278	G>A	CADASIL
RC402052	C106W	106	318	C>G	CADASIL
RC402053	C108W	108	324	C>G	CADASIL
RC402054	C108Y	108	323	G>A	CADASIL
RC402055	C108R	108	322	T>C	CADASIL
RC402056	R110C	110	328	C>T	CADASIL
RC402057	C117F	117	350	G>T	CADASIL
RC402058	C117R	117	349	T>C	CADASIL ?
RC402059	S118C	118	353	C>G	CADASIL
RC402060	C123F	123	368	G>T	CADASIL
RC402061	C123Y	123	368	G>A	CADASIL
RC402062	C128Y	128	383	G>A	CADASIL
RC402063	C128G	128	382	T>G	CADASIL
RC402064	G131C	131	391	G>T	CADASIL
RC402065	R133C	133	397	C>T	CADASIL
RC402066	C134W	134	402	C>G	CADASIL
RC402067	R141C	141	421	C>T	CADASIL
RC402068	F142C	142	425	T>G	CADASIL
RC402069	C144S	144	431	G>C	CADASIL
RC402070	C144Y	144	431	G>A	CADASIL
RC402071	C144F	144	431	G>T	CADASIL
RC402072	S145C	145	434	C>G	CADASIL
RC402073	C146Y	146	437	G>A	CADASIL
RC402074	C146R	146	436	T>C	CADASIL
RC402075	G149C	149	445	G>T	CADASIL
RC402076	Y150C	150	449	A>G	CADASIL
RC402077	R153C	153	457	C>T	CADASIL
RC402078	C155S	155	464	G>C	CADASIL
RC402079	C162W	162	486	C>G	CADASIL
RC402080	C162S	162	484	T>A	CADASIL
RC402081	C162R	162	484	T>C	CADASIL
RC402082	R169C	169	505	C>T	CADASIL
RC402083	G171C	171	511	G>T	CADASIL
RC402084	C174Y	174	521	G>A	CADASIL
RC402085	C174F	174	521	G>T	CADASIL
RC402086	C174R	174	520	T>C	CADASIL
RC402087	S180C	180	539	C>G	CADASIL
RC402088	R182C	182	544	C>T	CADASIL
RC402089	C183F	183	548	G>T	CADASIL
RC402090	C183R	183	547	T>C	CADASIL
RC402091	C183S	183	547	T>A	CADASIL
RC402092	C185G	185	553	T>G	CADASIL
RC402093	C185R	185	553	T>C	CADASIL
RC402094	Y189C	189	566	A>G	CADASIL
RC402095	C194F	194	581	G>T	CADASIL
RC402096	C194Y	194	581	G>A	CADASIL
RC402097	C194R	194	580	T>C	CADASIL
RC402098	C194S	194	580	T>A	CADASIL
RC402099	C201Y	201	602	G>A	CADASIL
RC402100	C201R	201	601	T>C	CADASIL
RC402101	C206Y	206	617	G>A	CADASIL
RC402102	C206R	206	616	T>C	CADASIL
RC402103	R207C	207	619	C>T	CADASIL
RC402104	C212S	212	634	T>A	CADASIL
RC402105	R213K	213	638	G>A	CADASIL
RC402106	Y220C	220	659	A>G	CADASIL
RC402107	C222Y	222	665	G>A	CADASIL
RC402108	C222G	222	664	T>G	CADASIL
RC402109	C224Y	224	671	G>A	CADASIL
RC402110	C233W	233	699	T>G	CADASIL
RC402111	C233Y	233	698	G>A	CADASIL
RC402112	C233S	233	697	T>A	CADASIL
RC402113	v237M	237	709	G>A	CADASIL
RC402114	C240S	240	719	G>C	CADASIL
RC402115	C245R	245	733	T>C	CADASIL
RC402116	C245S	245	733	T>A	CADASIL
RC402117	C251R	251	751	T>C	CADASIL
RC402118	C251S	251	751	T>A	CADASIL
RC402119	C251G	251	751	T>G	CADASIL
RC402120	Y258C	258	773	A>G	CADASIL
RC402121	C260Y	260	779	G>A	CADASIL
RC402122	C271F	271	812	G>T	CADASIL
RC402123	R332C	332	994	C>T	CADASIL
RC402124	S335C	335	1004	C>G	CADASIL
RC402125	Y337C	337	1010	A>G	CADASIL
RC402126	C338R	338	1012	T>C	CADASIL
RC402127	C366W	366	1098	T>G	CADASIL
RC402128	C379S	379	1136	G>C	CADASIL
RC402129	G382C	382	1144	G>T	CADASIL
RC402130	C388Y	388	1163	G>A	CADASIL
RC402131	C395R	395	1183	T>C	CADASIL
RC402132	G420C	420	1258	G>T	CADASIL
RC402133	R421C	421	1261	C>T	CADASIL
RC402134	C428S	428	1283	G>C	CADASIL
RC402135	C428Y	428	1283	G>A	CADASIL
RC402136	C428R	428	1282	T>C	CADASIL
RC402137	C435R	435	1303	T>C	CADASIL
RC402138	C440G	440	1318	T>G	CADASIL
RC402139	C440R	440	1318	T>C	CADASIL
RC402140	C440S	440	1318	T>A	CADASIL
RC402141	C446F	446	1337	G>T	CADASIL
RC402142	C446S	446	1337	G>C	CADASIL
RC402143	R449C	449	1345	C>T	CADASIL
RC402144	C455R	455	1363	T>C	CADASIL
RC402145	Y465C	465	1394	A>G	CADASIL
RC402146	C484Y	484	1451	G>A	CADASIL
RC402147	C484F	484	1451	G>T	CADASIL
RC402148	C495Y	495	1484	G>A	CADASIL
RC402149	C511Y	511	1532	G>A	CADASIL
RC402150	C511R	511	1531	T>C	CADASIL
RC402151	G528C	528	1582	G>T	CADASIL
RC402152	C531S	531	1592	G>C	CADASIL
RC402153	R532C	532	1594	C>T	CADASIL
RC402154	C542Y	542	1625	G>A	CADASIL
RC402155	R544C	544	1630	C>T	CADASIL
RC402156	C549Y	549	1646	G>A	CADASIL
RC402157	C549R	549	1645	T>C	CADASIL
RC402158	R558C	558	1672	C>T	CADASIL
RC402159	C568Y	568	1703	G>A	CADASIL
RC402160	Y574C	574	1721	A>G	CADASIL
RC402161	T577A	577	1729	A>G	CADASIL
RC402162	R578C	578	1732	C>T	CADASIL
RC402163	R587C	587	1759	C>T	CADASIL
RC402164	R607C	607	1819	C>T	CADASIL
RC402165	R728C	728	2182	C>T	CADASIL
RC402166	C775S	775	2324	G>C	CADASIL
RC402167	G953C	953	2857	G>T	CADASIL
RC402168	G975C	975	2923	G>T	CADASIL
RC402169	C977S	977	2929	T>A	CADASIL
RC402170	S978R	978	2932	A>C	CADASIL
RC402171	F984C	984	2951	T>G	CADASIL
RC402172	R985C	985	2953	C>T	CADASIL
RC402173	C988Y	988	2963	G>A	CADASIL
RC402174	C997G	997	2989	T>G	CADASIL
RC402175	C1004Y	1004	3011	G>A	CADASIL
RC402176	R1006C	1006	3016	C>T	CADASIL
RC402177	C1015R	1015	3043	T>C	CADASIL
RC402178	A1020P	1020	3058	G>C	CADASIL
RC402179	Y1021C	1021	3062	A>G	CADASIL
RC402180	R1031C	1031	3091	C>T	CADASIL
RC402181	G1058C	1058	3172	G>T	CADASIL
RC402182	R1076C	1076	3226	C>T	CADASIL
RC402183	C1099Y	1099	3296	G>A	CADASIL
RC402184	C1131W	1131	3393	C>G	CADASIL
RC402185	R1231C	1231	3691	C>T	CADASIL
RC402186	C1261Y	1261	3782	G>A	CADASIL
RC402187	C1261R	1261	3781	T>C	CADASIL
RC402188	L1515P	1515	4544	T>C	CADASIL

Over 1000 citations of OriGene cDNA clones

Description of the mutations of NOTCH3 (NM_000435) Mutants