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HomeAll Cancer Mutant ClonesBTK Mutants

Description of the mutations of BTK (NM_000061) 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
RC400768 L11P1132T>CAmmlobulinemi
RC400769 K12R1235A>GAmmlobulinemi
RC400770 R13X1337C>TAmmlobulinemi
RC400771 S14F1441C>TAmmlobulinemi
RC400772 Q15X1543C>TAmmlobulinemi
RC400773 K17E1749A>GAmmlobulinemi
RC400774 K19E1955A>GAmmlobulinemi
RC400775 K19X1955A>TAmmlobulinemi
RC400776 S21X2162C>AAmmlobulinemi
RC400777 F25S2574T>CAmmlobulinemi
RC400778 K27R2780A>GAmmlobulinemi
RC400779 R28L2883G>TAmmlobulinemi
RC400780 R28H2883G>AAmmlobulinemi
RC400781 R28P2883G>CAmmlobulinemi
RC400782 R28S2882C>AAmmlobulinemi
RC400783 R28C2882C>TAmmlobulinemi
RC400784 L31P3192T>CAmmlobulinemi
RC400785 L32S3295T>CAmmlobulinemi
RC400786 L32W3295T>GAmmlobulinemi
RC400787 T33I3398C>TAmmlobulinemi
RC400788 T33P3397A>CAmmlobulinemi
RC400789 Y39X39117C>AAmmlobulinemi
RC400790 Y39C39116A>GAmmlobulinemi
RC400791 Y39S39116A>CAmmlobulinemi
RC400792 Y40C40119A>GAmmlobulinemi
RC400793 Y40N40118T>AAmmlobulinemi
RC400794 I56T56167T>CAmmlobulinemi
RC400795 I61T61182T>CAmmlobulinemi
RC400796 I61N61182T>AAmmlobulinemi
RC400797 V64D64191T>AAmmlobulinemi
RC400798 V64F64190G>TAmmlobulinemi
RC400799 P69S69205C>TAmmlobulinemi
RC400800 Q78X78232C>TAmmlobulinemi
RC400801 Q91X91271C>TAmmlobulinemi
RC400802 F98V98292T>GAmmlobulinemi
RC400803 Q103R103308A>GAmmlobulinemi
RC400804 L111R111332T>GAmmlobulinemi
RC400805 L111P111332T>CAmmlobulinemi
RC400806 Y112X112336C>GAmmlobulinemi
RC400807 Y112X112336C>AAmmlobulinemi
RC400808 Y112H112334T>CAmmlobulinemi
RC400809 V113D113338T>AAmmlobulinemi
RC400810 V113F113337G>TAmmlobulinemi
RC400811 S115F115344C>TAmmlobulinemi
RC400812 T117P117349A>CAmmlobulinemi
RC400813 W124C124372G>TAmmlobulinemi
RC400814 W124X124371G>AAmmlobulinemi
RC400815 Q127H127381G>CAmmlobulinemi
RC400816 Y134X134402C>GAmmlobulinemi
RC400817 Y142X142426T>GAmmlobulinemi
RC400818 Y142X142426T>AAmmlobulinemi
RC400819 C145X145435C>AAmmlobulinemi
RC400820 W147X147441G>AAmmlobulinemi
RC400821 Y152C152455A>GAmmlobulinemi
RC400822 C154Y154461G>AAmmlobulinemi
RC400823 C154S154461G>CAmmlobulinemi
RC400824 C154G154460T>GAmmlobulinemi
RC400825 C155Y155464G>AAmmlobulinemi
RC400826 C155G155463T>GAmmlobulinemi
RC400827 C155R155463T>CAmmlobulinemi
RC400828 C165Y165494G>AAmmlobulinemi
RC400829 Q166X166496C>TAmmlobulinemi
RC400830 E193X193577G>TAmmlobulinemi
RC400831 Q196X196586C>TAmmlobulinemi
RC400832 K199X199595A>THyper-IM syndrome
RC400833 K199E199595A>GAmmlobulinemi
RC400834 P201L201602C>TAmmlobulinemi
RC400835 E205D205615G>TAmmlobulinemi ?
RC400836 Y223X223669T>GAmmlobulinemi
RC400837 Q234X234700C>TAmmlobulinemi
RC400838 E240X240718G>TAmmlobulinemi
RC400839 L244X244731T>AAmmlobulinemi
RC400840 L249X249746T>AAmmlobulinemi
RC400841 W251X251753G>AAmmlobulinemi
RC400842 W252X252756G>AAmmlobulinemi
RC400843 W252X252755G>AAmmlobulinemi
RC400844 R255X255763C>TAmmlobulinemi
RC400845 Q260X260778C>TAmmlobulinemi
RC400846 E277X277829G>TAmmlobulinemi
RC400847 E280X280838G>TAmmlobulinemi
RC400848 W281X281843G>AAmmlobulinemi
RC400849 W281X281842G>AAmmlobulinemi
RC400850 R288Q288863G>AAmmlobulinemi
RC400851 R288W288862C>TAmmlobulinemi
RC400852 Q293X293877C>TAmmlobulinemi
RC400853 L295P295884T>CAmmlobulinemi
RC400854 Q297X297889C>TAmmlobulinemi
RC400855 G302E302905G>AAmmlobulinemi
RC400856 G302R302904G>AAmmlobulinemi
RC400857 R307S307921A>CAmmlobulinemi
RC400858 R307K307920G>AAmmlobulinemi
RC400859 R307T307920G>CAmmlobulinemi
RC400860 R307G307919A>GAmmlobulinemi
RC400861 D308E308924C>GAmmlobulinemi
RC400862 Y315X315945T>GAmmlobulinemi
RC400863 T316A316946A>GAmmlobulinemi ?
RC400864 S318F318953C>TAmmlobulinemi
RC400865 S318P318952T>CAmmlobulinemi
RC400866 V319A319956T>CAmmlobulinemi
RC400867 G325E325974G>ABruon disese ?
RC400868 Q328X328982C>TAmmlobulinemi
RC400869 Y334S3341001A>CAmmlobulinemi
RC400870 Y334H3341000T>CPrimry immunodefiieny disese
RC400871 C337X3371011T>AAmmlobulinemi
RC400872 C337G3371009T>GAmmlobulinemi
RC400873 Q343X3431027C>TAmmlobulinemi
RC400874 L346R3461037T>GAmmlobulinemi
RC400875 L346P3461037T>CAmmlobulinemi
RC400876 A347P3471039G>CAmmlobulinemi
RC400877 E348X3481042G>TAmmlobulinemi
RC400878 L358F3581072C>TAmmlobulinemi
RC400879 Y361X3611083C>AAmmlobulinemi
RC400880 Y361C3611082A>GAmmlobulinemi
RC400881 Y361D3611081T>GAmmlobulinemi
RC400882 H362Q3621086T>GAmmlobulinemi
RC400883 H362R3621085A>GAmmlobulinemi
RC400884 H364P3641091A>CAmmlobulinemi
RC400885 H364D3641090C>GAmmlobulinemi
RC400886 N365Y3651093A>TAmmlobulinemi
RC400887 G368X3681102G>TAmmlobulinemi
RC400888 L369F3691105C>TAmmlobulinemi
RC400889 I370M3701110A>GAmmlobulinemi
RC400890 S371P3711111T>CAmmlobulinemi
RC400891 R372G3721114A>GAmmlobulinemi
RC400892 K374N3741122A>CAmmlobulinemi
RC400893 Y375X3751125T>GAmmlobulinemi
RC400894 Q379X3791135C>TAmmlobulinemi
RC400895 Q380X3801138C>TAmmlobulinemi
RC400896 Y392X3921176C>AAmmlobulinemi
RC400897 W395X3951184G>AAmmlobulinemi
RC400898 L402P4021205T>CAmmlobulinemi
RC400899 L408P4081223T>CAmmlobulinemi
RC400900 G414R4141240G>AAmmlobulinemi
RC400901 Y418H4181252T>CAmmlobulinemi ?
RC400902 G419E4191256G>AAmmlobulinemi
RC400903 G419R4191255G>AAmmlobulinemi
RC400904 W421X4211263G>AAmmlobulinemi
RC400905 Y425X4251275C>AAmmlobulinemi
RC400906 I429N4291286T>AAmmlobulinemi
RC400907 K430R4301289A>GAmmlobulinemi
RC400908 K430E4301288A>GAmmlobulinemi
RC400909 E441X4411321G>TAmmlobulinemi
RC400910 E445D4451335A>CAmmlobulinemi
RC400911 M450I4501350G>AAmmlobulinemi
RC400912 L452P4521355T>CAmmlobulinemi
RC400913 H454R4541361A>GAmmlobulinemi
RC400914 Q459X4591375C>TAmmlobulinemi
RC400915 L460X4601379T>AAmmlobulinemi
RC400916 G462D4621385G>AAmmlobulinemi
RC400917 G462V4621385G>TAmmlobulinemi
RC400918 C464X4641392C>AAmmlobulinemi
RC400919 K466X4661396A>TAmmlobulinemi
RC400920 Y476D4761426T>GAmmlobulinemi
RC400921 M477R4771430T>GAmmlobulinemi
RC400922 Y485X4851455C>AAmmlobulinemi
RC400923 L486P4861457T>CAmmlobulinemi
RC400924 Q496X4961486C>TAmmlobulinemi
RC400925 Q497X4971489C>TAmmlobulinemi
RC400926 L498V4981492C>GAmmlobulinemi
RC400927 E500X5001498G>TAmmlobulinemi
RC400928 M501T5011502T>CAmmlobulinemi
RC400929 C502X5021506C>AAmmlobulinemi
RC400930 C502W5021506C>GAmmlobulinemi
RC400931 C502F5021505G>TAmmlobulinemi
RC400932 D504V5041511A>TAmmlobulinemi
RC400933 C506Y5061517G>AAmmlobulinemi
RC400934 C506F5061517G>TAmmlobulinemi
RC400935 C506R5061516T>CAmmlobulinemi
RC400936 A508D5081523C>AAmmlobulinemi
RC400937 M509I5091527G>TAmmlobulinemi
RC400938 M509I5091527G>AAmmlobulinemi
RC400939 M509T5091526T>CAmmlobulinemi
RC400940 M509V5091525A>GAmmlobulinemi
RC400941 Y511X5111533C>AAmmlobulinemi
RC400942 Y511N5111531T>AAmmlobulinemi
RC400943 L512Q5121535T>AAmmlobulinemi
RC400944 L512P5121535T>CAmmlobulinemi
RC400945 L518R5181553T>GAmmlobulinemi
RC400946 R520Q5201559G>AAmmlobulinemi
RC400947 R520G5201558C>GAmmlobulinemi
RC400948 R520X5201558C>TAmmlobulinemi
RC400949 D521V5211562A>TPrimry immunodefiieny disese
RC400950 D521G5211562A>GAmmlobulinemi
RC400951 D521N5211561G>AAmmlobulinemi
RC400952 D521H5211561G>CAmmlobulinemi
RC400953 A523E5231568C>AAmmlobulinemi
RC400954 R525Q5251574G>AAmmlobulinemi
RC400955 R525P5251574G>CAmmlobulinemi
RC400956 R525X5251573C>TAmmlobulinemi
RC400957 R525G5251573C>GAmmlobulinemi
RC400958 N526K5261578C>GAmmlobulinemi
RC400959 C527F5271580G>TAmmlobulinemi
RC400960 C527S5271579T>AAmmlobulinemi
RC400961 V535F5351603G>TAmmlobulinemi
RC400962 V537E5371610T>AAmmlobulinemi
RC400963 S538P5381612T>CAmmlobulinemi
RC400964 F540S5401619T>CAmmlobulinemi
RC400965 G541D5411622G>AAmmlobulinemi
RC400966 L542P5421625T>CAmmlobulinemi
RC400967 R544S5441632G>TAmmlobulinemi
RC400968 R544K5441631G>AAmmlobulinemi
RC400969 R544G5441630A>GAmmlobulinemi
RC400970 V546A5461637T>CAmmlobulinemi
RC400971 Y551H5511651T>CAmmlobulinemi
RC400972 S554X5541661C>GAmmlobulinemi
RC400973 K558X5581672A>TAmmlobulinemi
RC400974 F559S5591676T>CAmmlobulinemi
RC400975 R562P5621685G>CAmmlobulinemi
RC400976 R562W5621684C>TAmmlobulinemi
RC400977 W563X5631688G>AAmmlobulinemi
RC400978 W563L5631688G>TAmmlobulinemi
RC400979 P565L5651694C>TAmmlobulinemi
RC400980 P565T5651693C>AAmmlobulinemi
RC400981 P566S5661696C>TAmmlobulinemi
RC400982 E567D5671701A>CAmmlobulinemi
RC400983 E567K5671699G>AAmmlobulinemi
RC400984 L569P5691706T>CAmmlobulinemi
RC400985 F574L5741722C>GAmmlobulinemi
RC400986 S575R5751725C>AAmmlobulinemi
RC400987 S575I5751724G>TAmmlobulinemi
RC400988 S578Y5781733C>AAmmlobulinemi
RC400989 S578P5781732T>CAmmlobulinemi
RC400990 D579V5791736A>TAmmlobulinemi
RC400991 W581X5811743G>AAmmlobulinemi
RC400992 W581S5811742G>CAmmlobulinemi
RC400993 W581R5811741T>CAmmlobulinemi
RC400994 A582V5821745C>TAmmlobulinemi
RC400995 F583S5831748T>CAmmlobulinemi
RC400996 G584E5841751G>AAmmlobulinemi
RC400997 V585F5851753G>TAmmlobulinemi
RC400998 M587T5871760T>CAmmlobulinemi
RC400999 M587L5871759A>CAmmlobulinemi
RC401000 W588C5881764G>TAmmlobulinemi
RC401001 W588X5881764G>AAmmlobulinemi
RC401002 W588X5881763G>AAmmlobulinemi
RC401003 W588R5881762T>CAmmlobulinemi
RC401004 E589D5891767A>TAmmlobulinemi
RC401005 E589G5891766A>GAmmlobulinemi
RC401006 E589K5891765G>AAmmlobulinemi
RC401007 I590F5901768A>TAmmlobulinemi
RC401008 Y591X5911773C>AAmmlobulinemi
RC401009 Y591S5911772A>CAmmlobulinemi
RC401010 S592Y5921775C>AAmmlobulinemi
RC401011 S592P5921774T>CAmmlobulinemi
RC401012 G594E5941781G>AAmmlobulinemi
RC401013 G594R5941780G>CAmmlobulinemi
RC401014 G594R5941780G>AAmmlobulinemi
RC401015 P597T5971789C>AAmmlobulinemi
RC401016 Y598S5981793A>CAmmlobulinemi
RC401017 Y598C5981793A>GAmmlobulinemi
RC401018 Y598D5981792T>GAmmlobulinemi
RC401019 R600X6001798A>TAmmlobulinemi
RC401020 T602I6021805C>TBruon disese ?
RC401021 E605G6051814A>GAmmlobulinemi
RC401022 T606P6061816A>CAmmlobulinemi
RC401023 A607D6071820C>AAmmlobulinemi
RC401024 Q612P6121835A>CAmmlobulinemi
RC401025 Q612X6121834C>TAmmlobulinemi
RC401026 G613A6131838G>CAmmlobulinemi
RC401027 G613D6131838G>AAmmlobulinemi
RC401028 R615P6151844G>CAmmlobulinemi
RC401029 R615S6151843C>AAmmlobulinemi
RC401030 L616I6161846C>AAmmlobulinemi
RC401031 L616F6161846C>TAmmlobulinemi
RC401032 R618G6181852A>GHyper-IM syndrome
RC401033 P619L6191856C>TAmmlobulinemi
RC401034 P619S6191855C>TAmmlobulinemi
RC401035 P619A6191855C>GAmmlobulinemi
RC401036 P619T6191855C>AAmmlobulinemi
RC401037 A622P6221864G>CAmmlobulinemi
RC401038 S623L6231868C>TAmmlobulinemi
RC401039 K625X6251873A>TAmmlobulinemi
RC401040 V626G6261877T>GAmmlobulinemi
RC401041 M630R6301889T>GAmmlobulinemi
RC401042 M630K6301889T>AAmmlobulinemi
RC401043 M630T6301889T>CAmmlobulinemi
RC401044 C633Y6331898G>AAmmlobulinemi
RC401045 W634X6341902G>AAmmlobulinemi
RC401046 W634S6341901G>CAmmlobulinemi
RC401047 E636X6361906G>TAmmlobulinemi
RC401048 D639Y6391915G>TAmmlobulinemi
RC401049 R641H6411922G>AAmmlobulinemi
RC401050 R641C6411921C>TAmmlobulinemi
RC401051 T643I6431928C>TAmmlobulinemi
RC401052 F644L6441932C>AAmmlobulinemi
RC401053 F644S6441931T>CAmmlobulinemi
RC401054 L647P6471940T>CAmmlobulinemi
RC401055 L647R6471940T>GAmmlobulinemi
RC401056 L648P6481943T>CAmmlobulinemi
RC401057 I651T6511952T>CAmmlobulinemi
RC401058 L652P6521955T>CAmmlobulinemi

 

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