1ZMQ.C | DEFA6

General Structure Information 1zmq DEFA6 crystal structure of human alpha-defensin-6 2.1Å AUTH A.SZYK,Z.WU,K.TUCKER,D.YANG,W.LU,J.LUBKOWSKITITL CRYSTAL STRUCTURES OF HUMAN {ALPHA}-DEFENSINS HNP4, HD5, ANDTITL 2 HD6.REF PROTEIN SCI. V. 15 2749 2006REFN ISSN 0961-8368PMID 17088326DOI 10.1110/PS.062336606 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3VHX.B | KIF23

General Structure Information 3vhx KIF23 the crystal structure of arf6-mklp1 (mitotic kinesin-like protein 1) complex 2.81Å AUTH H.MAKYIO,M.OHGI,T.TAKEI,S.TAKAHASHI,H.TAKATSU,Y.KATOH,AUTH 2 A.HANAI,T.UEDA,Y.KANAHO,Y.XIE,H.W.SHIN,H.KAMIKUBO,M.KATAOKA,AUTH 3 M.KAWASAKI,R.KATO,S.WAKATSUKI,K.NAKAYAMATITL STRUCTURAL BASIS FOR ARF6-MKLP1 COMPLEX FORMATION ON THETITL 2 FLEMMING BODY RESPONSIBLE FOR CYTOKINESISREF EMBO J. V. 31 2590 2012REFN ISSN 0261-4189PMID 22522702DOI 10.1038/EMBOJ.2012.89 Variant Set Distributions Mapped Variants

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4EGX.B | KIF1A

General Structure Information 4egx KIF1A crystal structure of kif1a cc1-fha tandem 2.51Å AUTH L.HUO,Y.YUE,J.REN,J.YU,J.LIU,Y.YU,F.YE,T.XU,M.ZHANG,W.FENGTITL THE CC1-FHA TANDEM AS A CENTRAL HUB FOR CONTROLLING THETITL 2 DIMERIZATION AND ACTIVATION OF KINESIN-3 KIF1AREF STRUCTURE V. 20 1550 2012REFN ISSN 0969-2126PMID 22863567DOI 10.1016/J.STR.2012.07.002 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2YUQ.A | ITK

General Structure Information 2yuq ITK solution structure of the sh3 domain of human tyrosine- protein kinase itk/tsk -1.0Å AUTH H.ABE,K.MIYAMOTO,N.TOCHIO,M.SATO,S.KOSHIBA,AUTH 2 T.HARADA,S.WATANABE,T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE SH3 DOMAIN OF HUMANTITL 2 TYROSINE-PROTEIN KINASE ITK/TSKREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1T5C.B | CENPE

General Structure Information 1t5c CENPE crystal structure of the motor domain of human kinetochore protein cenp-e 2.5Å AUTH I.GARCIA-SAEZ,T.YEN,R.H.WADE,F.KOZIELSKITITL CRYSTAL STRUCTURE OF THE MOTOR DOMAIN OF THE HUMANTITL 2 KINETOCHORE PROTEIN CENP-E.REF J.MOL.BIOL. V. 340 1107 2004REFN ISSN 0022-2836PMID 15236970DOI 10.1016/J.JMB.2004.05.053 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2LLL.A | LMNB2

General Structure Information 2lll LMNB2 solution nmr structure of c-terminal globular domain of human lamin- b2, northeast structural genomics consortium target hr8546a -1.0Å AUTH A.LEMAK,A.YEE,S.HOULISTON,M.GARCIA,C.XU,J.MIN,AUTH 2 G.T.MONTELIONE,C.ARROWSMITHTITL NMR SOLUTION STRUCTURE OF C-TERMINAL GLOBULAR DOMAIN OFTITL 2 HUMAN LAMIN-B2REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2BKD.N | FMR1

General Structure Information 2bkd FMR1 structure of the n-terminal domain of fragile x mental retardation protein -1.0Å AUTH A.RAMOS,D.HOLLINGWORTH,S.ADINOLFI,M.CASTETS,AUTH 2 G.KELLY,T.A.FRENKIEL,B.BARDONI,A.PASTORETITL THE STRUCTURE OF THE N-TERMINAL DOMAIN OF THETITL 2 FRAGILE X MENTAL RETARDATION PROTEIN: A PLATFORMTITL 3 FOR PROTEIN-PROTEIN INTERACTION.REF STRUCTURE V. 14 21 2006REFN ISSN 0969-2126PMID 16407062DOI 10.1016/J.STR.2005.09.018 Variant Set Distributions Mapped Variants

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1QSC.A | TRAF2

General Structure Information 1qsc TRAF2 crystal structure of the traf domain of traf2 in a complex with a peptide from the cd40 receptor 2.4Å AUTH S.M.MCWHIRTER,S.S.PULLEN,J.M.HOLTON,J.J.CRUTE,AUTH 2 M.R.KEHRY,T.ALBERTITL CRYSTALLOGRAPHIC ANALYSIS OF CD40 RECOGNITION ANDTITL 2 SIGNALING BY HUMAN TRAF2.REF PROC.NATL.ACAD.SCI.USA V. 96 8408 1999REFN ISSN 0027-8424PMID 10411888DOI 10.1073/PNAS.96.15.8408 Variant Set Distributions Mapped Variants

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2J5D.A | BNIP3

General Structure Information 2j5d BNIP3 nmr structure of bnip3 transmembrane domain in lipid bicelles -1.0Å AUTH E.V.BOCHAROV,Y.E.PUSTOVALOVA,K.V.PAVLOV,AUTH 2 P.E.VOLYNSKY,M.V.GONCHARUK,Y.S.ERMOLYUK,AUTH 3 D.V.KARPUNIN,A.A.SCHULGA,M.P.KIRPICHNIKOV,AUTH 4 R.G.EFREMOV,I.V.MASLENNIKOV,A.S.ARSENIEVTITL UNIQUE DIMERIC STRUCTURE OF BNIP3 TRANSMEMBRANETITL 2 DOMAIN SUGGESTS MEMBRANE PERMEABILIZATION AS ATITL 3 CELL DEATH TRIGGER.REF J.BIOL.CHEM. V. 282 16256 2007REFN ISSN 0021-9258PMID 17412696DOI 10.1074/JBC.M701745200 Variant Set Distributions Mapped Variants

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2J2S.A | KMT2A

General Structure Information 2j2s KMT2A solution structure of the nonmethyl-cpg-binding cxxc domain of the leukaemia-associated mll histone methyltransferase -1.0Å AUTH M.D.ALLEN,C.G.GRUMMITT,C.HILCENKO,S.Y.MIN,AUTH 2 L.M.TONKIN,C.M.JOHNSON,S.M.FREUND,M.BYCROFT,AUTH 3 A.J.WARRENTITL SOLUTION STRUCTURE OF THE NONMETHYL-CPG-BINDINGTITL 2 CXXC DOMAIN OF THE LEUKAEMIA-ASSOCIATED MLLTITL 3 HISTONE METHYLTRANSFERASEREF EMBO J. V. 25 4503 2006REFN ISSN 0261-4189PMID 16990798DOI 10.1038/SJ.EMBOJ.7601340 Variant Set Distributions Mapped Variants

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