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HomeAll Cancer Mutant ClonesNOTCH3 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

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC402033 C43F43128G>TCADASIL
RC402034 C43G43127T>GCADASIL
RC402035 C49F49146G>TCADASIL
RC402036 C49Y49146G>ACADASIL
RC402037 C49G49145T>GCADASIL
RC402038 R54C54160C>TCADASIL
RC402039 S60C60179C>GCADASIL
RC402040 C65S65194G>CCADASIL
RC402041 C65Y65194G>ACADASIL
RC402042 C67Y67200G>ACADASIL
RC402043 W71C71213G>TCADASIL
RC402044 R75P75224G>CCADASIL
RC402045 C76W76228T>GCADASIL
RC402046 C76R76226T>CCADASIL
RC402047 C87Y87260G>ACADASIL
RC402048 C87R87259T>CCADASIL
RC402049 R90C90268C>TCADASIL
RC402050 C93F93278G>TCADASIL
RC402051 C93Y93278G>ACADASIL
RC402052 C106W106318C>GCADASIL
RC402053 C108W108324C>GCADASIL
RC402054 C108Y108323G>ACADASIL
RC402055 C108R108322T>CCADASIL
RC402056 R110C110328C>TCADASIL
RC402057 C117F117350G>TCADASIL
RC402058 C117R117349T>CCADASIL ?
RC402059 S118C118353C>GCADASIL
RC402060 C123F123368G>TCADASIL
RC402061 C123Y123368G>ACADASIL
RC402062 C128Y128383G>ACADASIL
RC402063 C128G128382T>GCADASIL
RC402064 G131C131391G>TCADASIL
RC402065 R133C133397C>TCADASIL
RC402066 C134W134402C>GCADASIL
RC402067 R141C141421C>TCADASIL
RC402068 F142C142425T>GCADASIL
RC402069 C144S144431G>CCADASIL
RC402070 C144Y144431G>ACADASIL
RC402071 C144F144431G>TCADASIL
RC402072 S145C145434C>GCADASIL
RC402073 C146Y146437G>ACADASIL
RC402074 C146R146436T>CCADASIL
RC402075 G149C149445G>TCADASIL
RC402076 Y150C150449A>GCADASIL
RC402077 R153C153457C>TCADASIL
RC402078 C155S155464G>CCADASIL
RC402079 C162W162486C>GCADASIL
RC402080 C162S162484T>ACADASIL
RC402081 C162R162484T>CCADASIL
RC402082 R169C169505C>TCADASIL
RC402083 G171C171511G>TCADASIL
RC402084 C174Y174521G>ACADASIL
RC402085 C174F174521G>TCADASIL
RC402086 C174R174520T>CCADASIL
RC402087 S180C180539C>GCADASIL
RC402088 R182C182544C>TCADASIL
RC402089 C183F183548G>TCADASIL
RC402090 C183R183547T>CCADASIL
RC402091 C183S183547T>ACADASIL
RC402092 C185G185553T>GCADASIL
RC402093 C185R185553T>CCADASIL
RC402094 Y189C189566A>GCADASIL
RC402095 C194F194581G>TCADASIL
RC402096 C194Y194581G>ACADASIL
RC402097 C194R194580T>CCADASIL
RC402098 C194S194580T>ACADASIL
RC402099 C201Y201602G>ACADASIL
RC402100 C201R201601T>CCADASIL
RC402101 C206Y206617G>ACADASIL
RC402102 C206R206616T>CCADASIL
RC402103 R207C207619C>TCADASIL
RC402104 C212S212634T>ACADASIL
RC402105 R213K213638G>ACADASIL
RC402106 Y220C220659A>GCADASIL
RC402107 C222Y222665G>ACADASIL
RC402108 C222G222664T>GCADASIL
RC402109 C224Y224671G>ACADASIL
RC402110 C233W233699T>GCADASIL
RC402111 C233Y233698G>ACADASIL
RC402112 C233S233697T>ACADASIL
RC402113 v237M237709G>ACADASIL
RC402114 C240S240719G>CCADASIL
RC402115 C245R245733T>CCADASIL
RC402116 C245S245733T>ACADASIL
RC402117 C251R251751T>CCADASIL
RC402118 C251S251751T>ACADASIL
RC402119 C251G251751T>GCADASIL
RC402120 Y258C258773A>GCADASIL
RC402121 C260Y260779G>ACADASIL
RC402122 C271F271812G>TCADASIL
RC402123 R332C332994C>TCADASIL
RC402124 S335C3351004C>GCADASIL
RC402125 Y337C3371010A>GCADASIL
RC402126 C338R3381012T>CCADASIL
RC402127 C366W3661098T>GCADASIL
RC402128 C379S3791136G>CCADASIL
RC402129 G382C3821144G>TCADASIL
RC402130 C388Y3881163G>ACADASIL
RC402131 C395R3951183T>CCADASIL
RC402132 G420C4201258G>TCADASIL
RC402133 R421C4211261C>TCADASIL
RC402134 C428S4281283G>CCADASIL
RC402135 C428Y4281283G>ACADASIL
RC402136 C428R4281282T>CCADASIL
RC402137 C435R4351303T>CCADASIL
RC402138 C440G4401318T>GCADASIL
RC402139 C440R4401318T>CCADASIL
RC402140 C440S4401318T>ACADASIL
RC402141 C446F4461337G>TCADASIL
RC402142 C446S4461337G>CCADASIL
RC402143 R449C4491345C>TCADASIL
RC402144 C455R4551363T>CCADASIL
RC402145 Y465C4651394A>GCADASIL
RC402146 C484Y4841451G>ACADASIL
RC402147 C484F4841451G>TCADASIL
RC402148 C495Y4951484G>ACADASIL
RC402149 C511Y5111532G>ACADASIL
RC402150 C511R5111531T>CCADASIL
RC402151 G528C5281582G>TCADASIL
RC402152 C531S5311592G>CCADASIL
RC402153 R532C5321594C>TCADASIL
RC402154 C542Y5421625G>ACADASIL
RC402155 R544C5441630C>TCADASIL
RC402156 C549Y5491646G>ACADASIL
RC402157 C549R5491645T>CCADASIL
RC402158 R558C5581672C>TCADASIL
RC402159 C568Y5681703G>ACADASIL
RC402160 Y574C5741721A>GCADASIL
RC402161 T577A5771729A>GCADASIL
RC402162 R578C5781732C>TCADASIL
RC402163 R587C5871759C>TCADASIL
RC402164 R607C6071819C>TCADASIL
RC402165 R728C7282182C>TCADASIL
RC402166 C775S7752324G>CCADASIL
RC402167 G953C9532857G>TCADASIL
RC402168 G975C9752923G>TCADASIL
RC402169 C977S9772929T>ACADASIL
RC402170 S978R9782932A>CCADASIL
RC402171 F984C9842951T>GCADASIL
RC402172 R985C9852953C>TCADASIL
RC402173 C988Y9882963G>ACADASIL
RC402174 C997G9972989T>GCADASIL
RC402175 C1004Y10043011G>ACADASIL
RC402176 R1006C10063016C>TCADASIL
RC402177 C1015R10153043T>CCADASIL
RC402178 A1020P10203058G>CCADASIL
RC402179 Y1021C10213062A>GCADASIL
RC402180 R1031C10313091C>TCADASIL
RC402181 G1058C10583172G>TCADASIL
RC402182 R1076C10763226C>TCADASIL
RC402183 C1099Y10993296G>ACADASIL
RC402184 C1131W11313393C>GCADASIL
RC402185 R1231C12313691C>TCADASIL
RC402186 C1261Y12613782G>ACADASIL
RC402187 C1261R12613781T>CCADASIL
RC402188 L1515P15154544T>CCADASIL

 

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