4BZC.A | SAMHD1

General Structure Information 4bzc SAMHD1 crystal structure of the tetrameric dgtp-bound wild type samhd1 catalytic core 2.88Å AUTH X.JI,Y.WU,J.YAN,J.MEHRENS,H.YANG,M.DELUCIA,C.HAO,AUTH 2 A.M.GRONENBORN,J.SKOWRONSKI,J.AHN,Y.XIONGTITL MECHANISM OF ALLOSTERIC ACTIVATION OF SAMHD1 BY DGTPREF NAT.STRUCT.MOL.BIOL. V. 20 1304 2013REFN ISSN 1545-9993PMID 24141705DOI 10.1038/NSMB.2692 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4CH9.B | KLHL3

General Structure Information 4ch9 KLHL3 crystal structure of the human klhl3 kelch domain in complex with a wnk4 peptide 1.84Å AUTH F.SCHUMACHER,F.J.SORRELL,D.R.ALESSI,A.N.BULLOCK,T.KURZTITL STRUCTURAL AND BIOCHEMICAL CHARACTERISATION OF THE KLHL3-TITL 2 WNK KINASE INTERACTION IMPORTANT IN BLOOD PRESSURETITL 3 REGULATION.REF BIOCHEM.J. V. 460 237 2014REFN ISSN 0264-6021PMID 24641320DOI 10.1042/BJ20140153 Variant Set Distributions Mapped Variants

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4FNW.A | ALK

General Structure Information 4fnw ALK crystal structure of the apo f1174l anaplastic lymphoma kinase catalytic domain 1.75Å AUTH L.F.EPSTEIN,H.CHEN,R.EMKEY,D.A.WHITTINGTONTITL THE R1275Q NEUROBLASTOMA MUTANT AND CERTAIN ATP-COMPETITIVETITL 2 INHIBITORS STABILIZE ALTERNATIVE ACTIVATION LOOPTITL 3 CONFORMATIONS OF ANAPLASTIC LYMPHOMA KINASE.REF J.BIOL.CHEM. V. 287 37447 2012REFN ISSN 0021-9258PMID 22932897DOI 10.1074/JBC.M112.391425 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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2RMN.A | TP63

General Structure Information 2rmn TP63 the solution structure of the p63 dna-binding domain -1.0Å AUTH A.ENTHART,J.FURRER,A.DEHNER,H.KESSLERTITL SOLUTION STRUCTURE AND BINDING STUDIES OF THE P63TITL 2 DNA BINDING DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3F5N.D | SERPINI1

General Structure Information 3f5n SERPINI1 structure of native human neuroserpin 3.15Å AUTH S.RICAGNO,S.CACCIA,G.SORRENTINO,G.ANTONINI,M.BOLOGNESITITL HUMAN NEUROSERPIN: STRUCTURE AND TIME-DEPENDENT INHIBITIONREF J.MOL.BIOL. V. 388 109 2009REFN ISSN 0022-2836PMID 19265707DOI 10.1016/J.JMB.2009.02.056 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2Y33.A | EGLN1

General Structure Information 2y33 EGLN1 s-nitrosylated phd2 (gsno soaked) in complex with zn(ii) and un9 2.0Å AUTH R.CHOWDHURY,E.FLASHMAN,J.MECINOVIC,H.B.KRAMER,B.M.KESSLER,AUTH 2 Y.M.FRAPART,J.-L.BOUCHER,I.J.CLIFTON,M.A.MCDONOUGH,AUTH 3 C.J.SCHOFIELDTITL STUDIES ON THE REACTION OF NITRIC OXIDE WITH THETITL 2 HYPOXIA-INDUCIBLE FACTOR PROLYL HYDROXYLASE DOMAIN 2TITL 3 (EGLN1)REF J.MOL.BIOL. V. 410 268 2011REFN ISSN 0022-2836PMID 21601578DOI 10.1016/J.JMB.2011.04.075 Variant Set Distributions Ripley’s K Analysis […]

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1S18.A | CANT1

General Structure Information 1s18 CANT1 structure and protein design of human apyrase 1.7Å AUTH J.DAI,J.LIU,Y.DENG,T.M.SMITH,M.LUTITL STRUCTURE AND PROTEIN DESIGN OF A HUMAN PLATELETTITL 2 FUNCTION INHIBITOR.REF CELL(CAMBRIDGE,MASS.) V. 116 649 2004REFN ISSN 0092-8674PMID 15006348DOI 10.1016/S0092-8674(04)00172-2 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2IDX.C | MMAB

General Structure Information 2idx MMAB structure of human atp:cobalamin adenosyltransferase bound to atp. 2.5Å AUTH H.L.SCHUBERT,C.P.HILLTITL STRUCTURE OF ATP-BOUND HUMAN ATP:COBALAMINTITL 2 ADENOSYLTRANSFERASE.REF BIOCHEMISTRY V. 45 15188 2006REFN ISSN 0006-2960PMID 17176040DOI 10.1021/BI061396F Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3OOI.A | NSD1

General Structure Information 3ooi NSD1 crystal structure of human histone-lysine n-methyltransferase nsd1 set domain in complex with s-adenosyl-l-methionine 1.75Å AUTH Q.QIAO,Y.LI,Z.CHEN,M.WANG,D.REINBERG,R.M.XUTITL THE STRUCTURE OF NSD1 REVEALS AN AUTOREGULATORY MECHANISMTITL 2 UNDERLYING HISTONE H3K36 METHYLATIONREF J.BIOL.CHEM. V. 286 8361 2010REFN ISSN 0021-9258PMID 21196496DOI 10.1074/JBC.M110.204115 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1SIQ.A | GCDH

General Structure Information 1siq GCDH the crystal structure and mechanism of human glutaryl-coa dehydrogenase 2.1Å AUTH Z.FU,M.WANG,R.PASCHKE,K.S.RAO,F.E.FRERMAN,J.J.KIMTITL CRYSTAL STRUCTURES OF HUMAN GLUTARYL-COA DEHYDROGENASE WITHTITL 2 AND WITHOUT AN ALTERNATE SUBSTRATE: STRUCTURAL BASES OFTITL 3 DEHYDROGENATION AND DECARBOXYLATION REACTIONSREF BIOCHEMISTRY V. 43 9674 2004REFN ISSN 0006-2960PMID 15274622DOI 10.1021/BI049290C Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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