1Z57.A | CLK1

General Structure Information 1z57 CLK1 crystal structure of human clk1 in complex with 10z-hymenialdisine 1.7Å AUTH A.N.BULLOCK,S.DAS,J.E.DEBRECZENI,P.RELLOS,O.FEDOROV,AUTH 2 F.H.NIESEN,K.GUO,E.PAPAGRIGORIOU,A.L.AMOS,S.CHO,B.E.TURK,AUTH 3 G.GHOSH,S.KNAPPTITL KINASE DOMAIN INSERTIONS DEFINE DISTINCT ROLES OF CLKTITL 2 KINASES IN SR PROTEIN PHOSPHORYLATION.REF STRUCTURE V. 17 352 2009REFN ISSN 0969-2126PMID 19278650DOI 10.1016/J.STR.2008.12.023 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1ZBQ.C | HSD17B4

General Structure Information 1zbq HSD17B4 crystal structure of human 17-beta-hydroxysteroid dehydrogenase type 4 in complex with nad 2.71Å AUTH P.LUKACIK,N.SHAFQAT,K.KAVANAGH,J.BRAY,F.VON DELFT,A.EDWARDS,AUTH 2 C.ARROWSMITH,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 17-BETA-HYDROXYSTEROIDTITL 2 DEHYDROGENASE TYPE 4 IN COMPLEX WITH NADREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2PF6.A | BCAM

General Structure Information 2pf6 BCAM lutheran glycoprotein, n-terminal domains 1 and 2 2.2Å AUTH T.J.MANKELOW,N.BURTON,F.O.STEFANSDOTTIR,F.A.SPRING,AUTH 2 S.F.PARSONS,J.S.PEDERSEN,C.L.OLIVEIRA,D.LAMMIE,T.WESS,AUTH 3 N.MOHANDAS,J.A.CHASIS,R.L.BRADY,D.J.ANSTEETITL THE LAMININ 511/521-BINDING SITE ON THE LUTHERAN BLOOD GROUPTITL 2 GLYCOPROTEIN IS LOCATED AT THE FLEXIBLE JUNCTION OF IGTITL 3 DOMAINS 2 AND 3.REF BLOOD V. 110 3398 2007REFN ISSN 0006-4971PMID 17638854DOI 10.1182/BLOOD-2007-06-094748 Variant Set Distributions […]

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2H5G.B | ALDH18A1

General Structure Information 2h5g ALDH18A1 crystal structure of human pyrroline-5-carboxylate synthetase 2.25Å AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4MBS.B | CCR5

General Structure Information 4mbs CCR5 crystal structure of the ccr5 chemokine receptor 2.71Å AUTH Q.TAN,Y.ZHU,J.LI,Z.CHEN,G.W.HAN,I.KUFAREVA,T.LI,L.MA,AUTH 2 G.FENALTI,J.LI,W.ZHANG,X.XIE,H.YANG,H.JIANG,V.CHEREZOV,AUTH 3 H.LIU,R.C.STEVENS,Q.ZHAO,B.WUTITL STRUCTURE OF THE CCR5 CHEMOKINE RECEPTOR-HIV ENTRY INHIBITORTITL 2 MARAVIROC COMPLEX.REF SCIENCE V. 341 1387 2013REFN ISSN 0036-8075PMID 24030490DOI 10.1126/SCIENCE.1241475 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3P0L.A | STAR

General Structure Information 3p0l STAR human steroidogenic acute regulatory protein 3.4Å AUTH A.G.THORSELL,W.H.LEE,C.PERSSON,M.I.SIPONEN,M.NILSSON,AUTH 2 R.D.BUSAM,T.KOTENYOVA,H.SCHULER,L.LEHTIOTITL COMPARATIVE STRUCTURAL ANALYSIS OF LIPID BINDING STARTTITL 2 DOMAINS.REF PLOS ONE V. 6 19521 2011REFN ESSN 1932-6203PMID 21738568DOI 10.1371/JOURNAL.PONE.0019521 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3C6K.D | SMS

General Structure Information 3c6k SMS crystal structure of human spermine synthase in complex with spermidine and 5-methylthioadenosine 1.95Å AUTH H.WU,J.MIN,H.ZENG,D.E.MCCLOSKEY,Y.IKEGUCHI,AUTH 2 P.LOPPNAU,A.J.MICHAEL,A.E.PEGG,A.N.PLOTNIKOVTITL CRYSTAL STRUCTURE OF HUMAN SPERMINE SYNTHASE:TITL 2 IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTICTITL 3 MECHANISM.REF J.BIOL.CHEM. V. 283 16135 2008REFN ISSN 0021-9258PMID 18367445DOI 10.1074/JBC.M710323200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3S95.B | LIMK1

General Structure Information 3s95 LIMK1 crystal structure of the human limk1 kinase domain in complex with staurosporine 1.65Å AUTH A.BELTRAMI,A.CHAIKUAD,N.DAGA,J.M.ELKINS,P.MAHAJAN,AUTH 2 P.SAVITSKY,M.VOLLMAR,T.KROJER,J.R.C.MUNIZ,O.FEDOROV,AUTH 3 C.K.ALLERSTON,W.W.YUE,O.GILEADI,F.VON DELFT,C.H.ARROWSMITH,AUTH 4 A.M.EDWARDS,J.WEIGELT,C.BOUNTRA,S.KNAPP,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN LIMK1 KINASE DOMAIN INTITL 2 COMPLEX WITH STAUROSPORINEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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4FSV.A | HSPA2

General Structure Information 4fsv HSPA2 crystal structure of a heat shock 70kda protein 2 (hspa2) from homo sapiens at 1.80 a resolution 1.8Å AUTH JOINT CENTER FOR STRUCTURAL GENOMICS (JCSG),AUTH 2 PARTNERSHIP FOR T-CELL BIOLOGY (TCELL)TITL CRYSTAL STRUCTURE OF A HEAT SHOCK 70KDA PROTEIN 2 (HSPA2)TITL 2 FROM HOMO SAPIENS AT 1.80 A RESOLUTIONREF TO […]

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4FIT.A | FHIT

General Structure Information 4fit FHIT fhit-apo 2.5Å AUTH C.D.LIMA,M.G.KLEIN,W.A.HENDRICKSONTITL STRUCTURE-BASED ANALYSIS OF CATALYSIS ANDTITL 2 SUBSTRATE DEFINITION IN THE HIT PROTEIN FAMILY.REF SCIENCE V. 278 286 1997REFN ISSN 0036-8075PMID 9323207DOI 10.1126/SCIENCE.278.5336.286 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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