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HomeAll Cancer Mutant ClonesNF2 Mutants

Description of the mutations of NF2 (NM_000268) 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
RC401909 Q18X1852C>TNeurofibromosis 2
RC401910 K20X2058A>TNeurofibromosis 2
RC401911 E34X34100G>TNeurofibromosis 2
RC401912 N36S36107A>GNeurofibromosis 2
RC401913 C37X37111C>ANeurofibromosis 2
RC401914 E38X38112G>TNeurofibromosis 2
RC401915 W41X41122G>ANeurofibromosis 2
RC401916 R57X57169C>TNeurofibromosis 2
RC401917 W60X60179G>ANeurofibromosis 2
RC401918 F62S62185T>CNeurofibromosis 2
RC401919 L64P64191T>CNeurofibromosis 2
RC401920 Q65X65193C>TNeurofibromosis 2
RC401921 W74X74222G>ANeurofibromosis 2
RC401922 M77V77229A>GNeurofibromosis 2
RC401923 E89X89265G>TNeurofibromosis 2
RC401924 K99X99295A>TNeurofibromosis 2
RC401925 E106G106317A>GNeurofibromosis 2
RC401926 Q111X111331C>TNeurofibromosis 2
RC401927 Q115X115343C>TNeurofibromosis 2
RC401928 K123X123367A>TNeurofibromosis 2
RC401929 L141P141422T>CNeurofibromosis 2
RC401930 Y144X144432C>ANeurofibromosis 2
RC401931 Y144X144432C>GNeurofibromosis 2
RC401932 Y153X153459C>ANeurofibromosis 2
RC401933 Y153X153459C>GNeurofibromosis 2
RC401934 Q165X165493C>TNeurofibromosis 2
RC401935 Y177X177531T>ANeurofibromosis 2
RC401936 E182X182544G>TNeurofibromosis 2
RC401937 W184X184552G>ANeurofibromosis 2
RC401938 W184X184551G>ANeurofibromosis 2
RC401939 W191X191572G>ANeurofibromosis 2
RC401940 Y192X192576C>GNeurofibromosis 2
RC401941 R196X196586C>TNeurofibromosis 2
RC401942 G197C197589G>TNeurofibromosis 2
RC401943 R198X198592C>TNeurofibromosis 2
RC401944 M205V205613A>GNeurofibromosis 2
RC401945 N220Y220658A>TNeurofibromosis 2
RC401946 Y221X221663C>GNeurofibromosis 2
RC401947 L234R234701T>GNeurofibromosis 2
RC401948 W258X258774G>ANeurofibromosis 2
RC401949 W258X258773G>ANeurofibromosis 2
RC401950 R262X262784C>TNeurofibromosis 2
RC401951 K269X269805A>TNeurofibromosis 2
RC401952 L316F316948G>CNeurofibromosis 2
RC401953 L316W316947T>GNeurofibromosis 2
RC401954 E317X317949G>TNeurofibromosis 2
RC401955 Q320X320958C>TNeurofibromosis 2
RC401956 Q324X324970C>TNeurofibromosis 2
RC401957 Q333X333997C>TNeurofibromosis 2
RC401958 R341X3411021C>TNeurofibromosis 2
RC401959 Q344X3441030C>TNeurofibromosis 2
RC401960 T352M3521055C>TNeurofibromosis 2
RC401961 E357X3571069G>TNeurofibromosis 2
RC401962 L360P3601079T>CNeurofibromosis 2
RC401963 Q362X3621084C>TNeurofibromosis 2
RC401964 E366X3661096G>TNeurofibromosis 2
RC401965 E372X3721114G>TNeurofibromosis 2
RC401966 E379X3791135G>TNeurofibromosis 2
RC401967 Q389X3891165C>TNeurofibromosis 2
RC401968 E394X3941180G>TNeurofibromosis 2
RC401969 Q400X4001198C>TNeurofibromosis 2
RC401970 Q407X4071219C>TNeurofibromosis 2
RC401971 Q410X4101228C>TNeurofibromosis 2
RC401972 K413E4131237A>GNeurofibromosis 2
RC401973 R418C4181252C>TNeurofibromosis 2
RC401974 E427X4271279G>TNeurofibromosis 2
RC401975 Q428X4281282C>TNeurofibromosis 2
RC401976 Q453X4531357C>TNeurofibromosis 2
RC401977 Q456X4561366C>TNeurofibromosis 2
RC401978 Q459X4591375C>TNeurofibromosis 2
RC401979 E463X4631387G>TNeurofibromosis 2
RC401980 E465X4651393G>TNeurofibromosis 2
RC401981 R466X4661396C>TNeurofibromosis 2
RC401982 Q470X4701408C>TNeurofibromosis 2
RC401983 Y481X4811443C>GNeurofibromosis 2
RC401984 S497T4971490G>CNeurofibromosis 2
RC401985 M514V5141540A>GNeurofibromosis 2
RC401986 L517P5171550T>CNeurofibromosis 2
RC401987 E527X5271579G>TNeurofibromosis 2
RC401988 K533T5331598A>CNeurofibromosis 2
RC401989 L535P5351604T>CNeurofibromosis 2
RC401990 Q536X5361606C>TNeurofibromosis 2
RC401991 Q538P5381613A>CNeurofibromosis 2
RC401992 Q538X5381612C>TNeurofibromosis 2
RC401993 L539H5391616T>ANeurofibromosis 2
RC401994 L542H5421625T>ANeurofibromosis 2
RC401995 K579M5791736A>TNeurofibromosis 2

 

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