2RLI.A | SCO2

General Structure Information 2rli SCO2 solution structure of cu(i) human sco2 -1.0Å AUTH L.BANCI,I.BERTINI,S.CIOFI-BAFFONI,AUTH 2 I.P.GEROTHANASSIS,I.LEONTARI,M.MARTINELLI,S.WANGTITL A STRUCTURAL CHARACTERIZATION OF HUMAN SCO2REF STRUCTURE V. 15 1132 2007REFN ISSN 0969-2126PMID 17850752DOI 10.1016/J.STR.2007.07.011 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3KQ4.B | CUBN

General Structure Information 3kq4 CUBN structure of intrinsic factor-cobalamin bound to its receptor cubilin 3.3Å AUTH C.B.ANDERSEN,M.MADSEN,T.STORM,S.K.MOESTRUP,G.R.ANDERSENTITL STRUCTURAL BASIS FOR RECEPTOR RECOGNITION OFTITL 2 VITAMIN-B(12)-INTRINSIC FACTOR COMPLEXES.REF NATURE V. 464 445 2010REFN ISSN 0028-0836PMID 20237569DOI 10.1038/NATURE08874 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2DMB.A | FLNB

General Structure Information 2dmb FLNB solution structure of the 15th filamin domain from human filamin-b -1.0Å AUTH T.TOMIZAWA,N.TOCHIO,S.KOSHIBA,S.WATANABE,T.HARADA,AUTH 2 T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE 15TH FILAMIN DOMAIN FROMTITL 2 HUMAN FILAMIN-BREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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4FVP.A | JAK2

General Structure Information 4fvp JAK2 crystal structure of the jak2 pseudokinase domain (apo form) 2.01Å AUTH R.M.BANDARANAYAKE,D.UNGUREANU,Y.SHAN,D.E.SHAW,AUTH 2 O.SILVENNOINEN,S.R.HUBBARDTITL CRYSTAL STRUCTURES OF THE JAK2 PSEUDOKINASE DOMAIN AND THETITL 2 PATHOGENIC MUTANT V617F.REF NAT.STRUCT.MOL.BIOL. V. 19 754 2012REFN ISSN 1545-9993PMID 22820988DOI 10.1038/NSMB.2348 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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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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4CAI.C | DYSF

General Structure Information 4cai DYSF structure of inner dysf domain of human dysferlin 2.2Å AUTH A.SULA,A.R.COLE,C.YEATS,C.ORENGO,N.H.KEEPTITL CRYSTAL STRUCTURES OF THE HUMAN DYSFERLIN INNER DYSF DOMAINREF BMC STRUCT.BIOL. V. 14 3 2014REFN ISSN 1472-6807PMID 24438169DOI 10.1186/1472-6807-14-3 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4I1H.A | PARK2

General Structure Information 4i1h PARK2 structure of parkin e3 ligase 2.0Å AUTH B.E.RILEY,J.C.LOUGHEED,K.CALLAWAY,M.VELASQUEZ,E.BRECHT,AUTH 2 L.NGUYEN,T.SHALER,D.WALKER,Y.YANG,K.REGNSTROM,L.DIEP,AUTH 3 Z.ZHANG,S.CHIOU,M.BOVA,D.R.ARTIS,N.YAO,J.BAKER,T.YEDNOCK,AUTH 4 J.A.JOHNSTONTITL STRUCTURE AND FUNCTION OF PARKIN E3 UBIQUITIN LIGASE REVEALSTITL 2 ASPECTS OF RING AND HECT LIGASES.REF NAT COMMUN V. 4 1982 2013REFN ESSN 2041-1723PMID 23770887DOI 10.1038/NCOMMS2982 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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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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1D4T.A | SH2D1A

General Structure Information 1d4t SH2D1A crystal structure of the xlp protein sap in complex with a slam peptide 1.1Å AUTH F.POY,M.B.YAFFE,J.SAYOS,K.SAXENA,M.MORRA,J.SUMEGI,AUTH 2 L.C.CANTLEY,C.TERHORST,M.J.ECKTITL CRYSTAL STRUCTURES OF THE XLP PROTEIN SAP REVEAL ATITL 2 CLASS OF SH2 DOMAINS WITH EXTENDED,TITL 3 PHOSPHOTYROSINE-INDEPENDENT SEQUENCE RECOGNITION.REF MOL.CELL V. 4 555 1999REFN ISSN 1097-2765PMID 10549287DOI 10.1016/S1097-2765(00)80206-3 Variant Set Distributions […]

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