2NVU.B | UBA3

General Structure Information 2nvu UBA3 structure of appbp1-uba3~nedd8-nedd8-mgatp-ubc12(c111a), a trapped ubiquitin-like protein activation complex 2.8Å AUTH D.T.HUANG,H.W.HUNT,M.ZHUANG,M.D.OHI,J.M.HOLTON,AUTH 2 B.A.SCHULMANTITL BASIS FOR A UBIQUITIN-LIKE PROTEIN THIOESTERTITL 2 SWITCH TOGGLING E1-E2 AFFINITY.REF NATURE V. 445 394 2007REFN ISSN 0028-0836PMID 17220875DOI 10.1038/NATURE05490 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2V64.A | MAD2L1

General Structure Information 2v64 MAD2L1 crystallographic structure of the conformational dimer of the spindle assembly checkpoint protein mad2. 2.9Å AUTH M.MAPELLI,L.MASSIMILIANO,S.SANTAGUIDA,A.MUSACCHIOTITL THE MAD2 CONFORMATIONAL DIMER: STRUCTURE ANDTITL 2 IMPLICATIONS FOR THE SPINDLE ASSEMBLY CHECKPOINTREF CELL(CAMBRIDGE,MASS.) V. 131 730 2007REFN ISSN 0092-8674PMID 18022367DOI 10.1016/J.CELL.2007.08.049 Variant Set Distributions Mapped Variants

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2V64.A | MAD2L1

General Structure Information 2v64 MAD2L1 crystallographic structure of the conformational dimer of the spindle assembly checkpoint protein mad2. 2.9Å AUTH M.MAPELLI,L.MASSIMILIANO,S.SANTAGUIDA,A.MUSACCHIOTITL THE MAD2 CONFORMATIONAL DIMER: STRUCTURE ANDTITL 2 IMPLICATIONS FOR THE SPINDLE ASSEMBLY CHECKPOINTREF CELL(CAMBRIDGE,MASS.) V. 131 730 2007REFN ISSN 0092-8674PMID 18022367DOI 10.1016/J.CELL.2007.08.049 Variant Set Distributions Mapped Variants

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1L8L.B | PSPH

General Structure Information 1l8l PSPH molecular basis for the local confomational rearrangement of human phosphoserine phosphatase 2.51Å AUTH H.Y.KIM,Y.S.HEO,J.H.KIM,M.H.PARK,J.MOON,E.KIM,AUTH 2 D.KWON,J.YOON,D.SHIN,E.J.JEONG,S.Y.PARK,T.G.LEE,AUTH 3 Y.H.JEON,S.RO,J.M.CHO,K.Y.HWANGTITL MOLECULAR BASIS FOR THE LOCAL CONFORMATIONALTITL 2 REARRANGEMENT OF HUMAN PHOSPHOSERINE PHOSPHATASE.REF J.BIOL.CHEM. V. 277 46651 2002REFN ISSN 0021-9258PMID 12213811DOI 10.1074/JBC.M204866200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1NE7.D | GNPDA1

General Structure Information 1ne7 GNPDA1 human glucosamine-6-phosphate deaminase isomerase at 1.75 a resolution complexed with n-acetyl-glucosamine-6-phosphate and 2-deoxy-2-amino-glucitol-6-phosphate 1.75Å AUTH R.ARREOLA,B.VALDERRAMA,M.L.MORANTE,E.HORJALESTITL TWO MAMMALIAN GLUCOSAMINE-6-PHOSPHATE DEAMINASES:TITL 2 A STRUCTURAL AND GENETIC STUDY.REF FEBS LETT. V. 551 63 2003REFN ISSN 0014-5793PMID 12965206DOI 10.1016/S0014-5793(03)00896-2 Variant Set Distributions Mapped Variants

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4GA7.A | SERPINB1

General Structure Information 4ga7 SERPINB1 crystal structure of human serpinb1 mutant 2.9Å AUTH L.WANG,Q.LI,L.WU,S.LIU,Y.ZHANG,X.YANG,P.ZHU,H.ZHANG,K.ZHANG,AUTH 2 J.LOU,P.LIU,L.TONG,F.SUN,Z.FANTITL IDENTIFICATION OF SERPINB1 AS A PHYSIOLOGICAL INHIBITOR OFTITL 2 HUMAN GRANZYME HREF J.IMMUNOL. V. 190 1319 2013REFN ISSN 0022-1767PMID 23269243DOI 10.4049/JIMMUNOL.1202542 Variant Set Distributions Mapped Variants

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3RCH.B | DDC

General Structure Information 3rch DDC crystal structure of human aromatic l-amino acid decarboxylase (aadc) in the open conformation with llp and plp bound to chain-a and chain- b respectively 2.8Å AUTH G.GIARDINA,R.MONTIOLI,S.GIANNI,B.CELLINI,A.PAIARDINI,AUTH 2 C.B.VOLTATTORNI,F.CUTRUZZOLATITL OPEN CONFORMATION OF HUMAN DOPA DECARBOXYLASE REVEALS THETITL 2 MECHANISM OF PLP ADDITION TO GROUP II DECARBOXYLASES.REF PROC.NATL.ACAD.SCI.USA V. 108 20514 […]

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1NN6.A | CMA1

General Structure Information 1nn6 CMA1 human pro-chymase 1.75Å AUTH K.K.REILING,J.KRUCINSKI,L.J.MIERCKE,W.W.RAYMOND,G.H.CAUGHEY,AUTH 2 R.M.STROUDTITL STRUCTURE OF HUMAN PRO-CHYMASE: A MODEL FOR THE ACTIVATINGTITL 2 TRANSITION OF GRANULE-ASSOCIATED PROTEASES.REF BIOCHEMISTRY V. 42 2616 2003REFN ISSN 0006-2960PMID 12614156DOI 10.1021/BI020594D Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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1TEV.A | CMPK1

General Structure Information 1tev CMPK1 crystal structure of the human ump/cmp kinase in open conformation 2.1Å AUTH N.SEKULIC,S.ORT,M.KONRAD,A.LAVIETITL SUBSTRATE-INDUCED CONFORMATIONAL CHANGES IN HUMANTITL 2 UMP/CMP KINASE.REF J.BIOL.CHEM. V. 279 33882 2004REFN ISSN 0021-9258PMID 15163660DOI 10.1074/JBC.M401989200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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