4AW6.E | ZMPSTE24

General Structure Information 4aw6 ZMPSTE24 crystal structure of the human nuclear membrane zinc metalloprotease zmpste24 (face1) 3.4Å AUTH A.QUIGLEY,Y.Y.DONG,A.C.W.PIKE,L.DONG,L.SHRESTHA,G.BERRIDGE,AUTH 2 P.J.STANSFELD,M.S.P.SANSOM,A.M.EDWARDS,C.BOUNTRA,AUTH 3 F.VON DELFT,A.N.BULLOCK,N.A.BURGESS-BROWN,E.P.CARPENTERTITL THE STRUCTURAL BASIS OF ZMPSTE24-DEPENDENT LAMINOPATHIES.REF SCIENCE V. 339 1604 2013REFN ISSN 0036-8075PMID 23539603DOI 10.1126/SCIENCE.1231513 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2RPC.A | ZIC3

General Structure Information 2rpc ZIC3 solution structure of the tandem zf-c2h2 domains from the human zinc finger protein zic 3 -1.0Å AUTH M.HATAYAMA,T.TOMIZAWA,K.SAKAI-KATO,P.BOUVAGNET,AUTH 2 S.KOSE,N.IMAMOTO,S.YOKOYAMA,N.UTSUNOMIYA-TATE,AUTH 3 K.MIKOSHIBA,T.KIGAWA,J.ARUGATITL FUNCTIONAL AND STRUCTURAL BASIS OF THE NUCLEARTITL 2 LOCALIZATION SIGNAL IN THE ZIC3 ZINC FINGER DOMAINREF HUM.MOL.GENET. V. 17 3459 2008REFN ISSN 0964-6906PMID 18716025DOI 10.1093/HMG/DDN239 Variant Set Distributions […]

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4F91.B | SNRNP200

General Structure Information 4f91 SNRNP200 brr2 helicase region 2.7Å AUTH K.F.SANTOS,S.M.JOVIN,G.WEBER,V.PENA,R.LUHRMANN,M.C.WAHLTITL STRUCTURAL BASIS FOR FUNCTIONAL COOPERATION BETWEEN TANDEMTITL 2 HELICASE CASSETTES IN BRR2-MEDIATED REMODELING OF THETITL 3 SPLICEOSOME.REF PROC.NATL.ACAD.SCI.USA V. 109 17418 2012REFN ISSN 0027-8424PMID 23045696DOI 10.1073/PNAS.1208098109 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4BGQ.A | CDKL5

General Structure Information 4bgq CDKL5 crystal structure of the human cdkl5 kinase domain 2.0Å AUTH P.CANNING,T.KROJER,S.GOUBIN,P.MAHAJAN,M.VOLLMAR,A.C.W.PIKE,AUTH 2 F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,A.BULLOCKTITL CRYSTAL STRUCTURE OF THE HUMAN CDKL5 KINASE DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3EE6.A | TPP1

General Structure Information 3ee6 TPP1 crystal structure analysis of tripeptidyl peptidase -i 2.35Å AUTH A.PAL,R.KRAETZNER,T.GRUENE,M.GRAPP,K.SCHREIBER,M.GRONBORG,AUTH 2 H.URLAUB,S.BECKER,A.R.ASIF,J.GARTNER,G.M.SHELDRICK,AUTH 3 R.STEINFELDTITL STRUCTURE OF TRIPEPTIDYL-PEPTIDASE I PROVIDES INSIGHT INTOTITL 2 THE MOLECULAR BASIS OF LATE INFANTILE NEURONAL CEROIDTITL 3 LIPOFUSCINOSISREF J.BIOL.CHEM. V. 284 3976 2009REFN ISSN 0021-9258PMID 19038966DOI 10.1074/JBC.M806947200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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4OG5.A | MEN1

General Structure Information 4og5 MEN1 human menin with bound inhibitor miv-5 1.63Å AUTH S.HE,T.J.SENTER,J.POLLOCK,C.HAN,S.K.UPADHYAY,T.PUROHIT,AUTH 2 R.D.GOGLIOTTI,C.W.LINDSLEY,T.CIERPICKI,S.R.STAUFFER,AUTH 3 J.GREMBECKATITL HIGH-AFFINITY SMALL-MOLECULE INHIBITORS OF THE MENIN-MIXEDTITL 2 LINEAGE LEUKEMIA (MLL) INTERACTION CLOSELY MIMIC A NATURALTITL 3 PROTEIN-PROTEIN INTERACTION.REF J.MED.CHEM. V. 57 1543 2014REFN ISSN 0022-2623PMID 24472025DOI 10.1021/JM401868D Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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2R0O.B | ACTN4

General Structure Information 2r0o ACTN4 crystal structure of the actin-binding domain of human alpha-actinin-4 mutant(k255e) 2.2Å AUTH S.H.LEE,A.WEINS,D.B.HAYES,M.R.POLLAK,R.DOMINGUEZTITL CRYSTAL STRUCTURE OF THE ACTIN-BINDING DOMAIN OFTITL 2 ALPHA-ACTININ-4 LYS255GLU MUTANT IMPLICATED IN FOCALTITL 3 SEGMENTAL GLOMERULOSCLEROSIS.REF J.MOL.BIOL. V. 376 317 2008REFN ISSN 0022-2836PMID 18164029DOI 10.1016/J.JMB.2007.11.084 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2A1X.A | PHYH

General Structure Information 2a1x PHYH human phytanoyl-coa 2-hydroxylase in complex with iron and 2- oxoglutarate 2.5Å AUTH M.A.MCDONOUGH,K.L.KAVANAGH,D.BUTLER,T.SEARLES,U.OPPERMANN,AUTH 2 C.J.SCHOFIELDTITL STRUCTURE OF HUMAN PHYTANOYL-COA 2-HYDROXYLASE IDENTIFIESTITL 2 MOLECULAR MECHANISMS OF REFSUM DISEASEREF J.BIOL.CHEM. V. 280 41101 2005REFN ISSN 0021-9258PMID 16186124DOI 10.1074/JBC.M507528200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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2AMY.A | PMM2

General Structure Information 2amy PMM2 x-ray structure of human phosphomannomutase 2 (pmm2) 2.09Å AUTH CENTER FOR EUKARYOTIC STRUCTURAL GENOMICS (CESG)TITL X-RAY STRUCTURE OF HUMAN PHOSPHOMANNOMUTASE 2 (PMM2)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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