2QZ4.A | SPG7

General Structure Information 2qz4 SPG7 human paraplegin, aaa domain in complex with adp 2.22Å AUTH T.KARLBERG,S.VAN DEN BERG,M.HAMMARSTROM,J.SAGEMARK,AUTH 2 I.JOHANSSON,L.HOLMBERG-SCHIAVONE,H.SCHULERTITL CRYSTAL STRUCTURE OF THE ATPASE DOMAIN OF THE HUMAN AAA+TITL 2 PROTEIN PARAPLEGIN/SPG7.REF PLOS ONE V. 4 E6975 2009REFN ESSN 1932-6203PMID 19841671DOI 10.1371/JOURNAL.PONE.0006975 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3L43.A | DNM3

General Structure Information 3l43 DNM3 crystal structure of the dynamin 3 gtpase domain bound with gdp 2.27Å AUTH S.YANG,W.TEMPEL,Y.TONG,L.NEDYALKOVA,X.GUAN,L.CROMBET,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,A.BOCHKAREV,AUTH 3 H.PARKTITL CRYSTAL STRUCTURE OF THE DYNAMIN 3 GTPASE DOMAIN BOUND WITHTITL 2 GDPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2CH6.D | NAGK

General Structure Information 2ch6 NAGK crystal structure of human n-acetylglucosamine kinase in complex with adp and glucose 2.72Å AUTH W.A.WEIHOFEN,M.BERGER,H.CHEN,W.SAENGER,S.HINDERLICHTITL STRUCTURES OF HUMAN N-ACETYLGLUCOSAMINE KINASE IN TWOTITL 2 COMPLEXES WITH N-ACETYLGLUCOSAMINE AND WITH ADP/GLUCOSE:TITL 3 INSIGHTS INTO SUBSTRATE SPECIFICITY AND REGULATION.REF J.MOL.BIOL. V. 364 388 2006REFN ISSN 0022-2836PMID 17010375DOI 10.1016/J.JMB.2006.08.085 Variant Set Distributions Ripley’s K […]

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2PV0.A | DNMT3L

General Structure Information 2pv0 DNMT3L dna methyltransferase 3 like protein (dnmt3l) 3.3Å AUTH S.K.OOI,C.QIU,E.BERNSTEIN,K.LI,D.JIA,Z.YANG,AUTH 2 H.ERDJUMENT-BROMAGE,P.TEMPST,S.P.LIN,C.D.ALLIS,AUTH 3 X.CHENG,T.H.BESTORTITL DNMT3L CONNECTS UNMETHYLATED LYSINE 4 OF HISTONETITL 2 H3 TO DE NOVO METHYLATION OF DNA.REF NATURE V. 448 714 2007REFN ISSN 0028-0836PMID 17687327DOI 10.1038/NATURE05987 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2PFN.A | POLL

General Structure Information 2pfn POLL na in the active site of dna polymerase lambda 1.9Å AUTH M.GARCIA-DIAZ,K.BEBENEK,J.M.KRAHN,L.C.PEDERSEN,AUTH 2 T.A.KUNKELTITL ROLE OF THE CATALYTIC METAL DURING POLYMERIZATIONTITL 2 BY DNA POLYMERASE LAMBDA.REF DNA REPAIR V. 6 1333 2007REFN ISSN 1568-7864PMID 17475573DOI 10.1016/J.DNAREP.2007.03.005 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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3HD6.A | RHCG

General Structure Information 3hd6 RHCG crystal structure of the human rhesus glycoprotein rhcg 2.1Å AUTH F.GRUSWITZ,S.CHAUDHARY,J.D.HO,A.SCHLESSINGER,B.PEZESHKI,AUTH 2 C.M.HO,A.SALI,C.M.WESTHOFF,R.M.STROUDTITL FUNCTION OF HUMAN RH BASED ON STRUCTURE OF RHCG AT 2.1 A.REF PROC.NATL.ACAD.SCI.USA V. 107 9638 2010REFN ISSN 0027-8424PMID 20457942DOI 10.1073/PNAS.1003587107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2CP3.A | CLIP2

General Structure Information 2cp3 CLIP2 solution structure of the 2nd cap-gly domain in human clip- 115/cyln2 -1.0Å AUTH K.SAITO,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE 2ND CAP-GLY DOMAIN INTITL 2 HUMAN CLIP-115/CYLN2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4I6H.A | PLK2

General Structure Information 4i6h PLK2 selective & brain-permeable polo-like kinase-2 (plk-2) inhibitors that reduce alpha-synuclein phosphorylation in rat brain 1.91Å AUTH D.L.AUBELE,R.K.HOM,M.ADLER,R.A.GALEMMO,S.BOWERS,A.P.TRUONG,AUTH 2 H.PAN,P.BEROZA,R.J.NEITZ,N.YAO,M.LIN,G.TONN,H.ZHANG,AUTH 3 M.P.BOVA,Z.REN,D.TAM,L.RUSLIM,J.BAKER,L.DIEP,K.FITZGERALD,AUTH 4 J.HOFFMAN,R.MOTTER,D.FAUSS,P.TANAKA,M.DAPPEN,J.JAGODZINSKI,AUTH 5 W.CHAN,A.W.KONRADI,L.LATIMER,Y.L.ZHU,H.L.SHAM,J.P.ANDERSON,AUTH 6 M.BERGERON,D.R.ARTISTITL SELECTIVE & BRAIN-PERMEABLE POLO-LIKE KINASE-2 (PLK-2)TITL 2 INHIBITORS THAT REDUCE ALPHA-SYNUCLEIN PHOSPHORYLATION INTITL 3 RAT BRAINREF CHEMMEDCHEM V. 8 1295 2013REFN ISSN 1860-7179PMID […]

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4F3T.A | AGO2

General Structure Information 4f3t AGO2 human argonaute-2 – mir-20a complex 2.25Å AUTH E.ELKAYAM,C.D.KUHN,A.TOCILJ,A.D.HAASE,E.M.GREENE,G.J.HANNON,AUTH 2 L.JOSHUA-TORTITL THE STRUCTURE OF HUMAN ARGONAUTE-2 IN COMPLEX WITH MIR-20A.REF CELL(CAMBRIDGE,MASS.) V. 150 100 2012REFN ISSN 0092-8674PMID 22682761DOI 10.1016/J.CELL.2012.05.017 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2ECB.A | ZHX1

General Structure Information 2ecb ZHX1 the solution structure of the third homeobox domain of human zinc fingers and homeoboxes protein -1.0Å AUTH S.OHNISHI,N.TOCHIO,A.SASAGAWA,K.SAITO,S.KOSHIBA,AUTH 2 M.INOUE,T.KIGAWA,S.YOKOYAMATITL THE SOLUTION STRUCTURE OF THE THIRD HOMEOBOXTITL 2 DOMAIN OF HUMAN ZINC FINGERS AND HOMEOBOXES PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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