3QXY.A | SETD6

General Structure Information 3qxy SETD6 human setd6 in complex with rela lys310 2.09Å AUTH Y.CHANG,D.LEVY,J.R.HORTON,J.PENG,X.ZHANG,O.GOZANI,X.CHENGTITL STRUCTURAL BASIS OF SETD6-MEDIATED REGULATION OF THE NF-KBTITL 2 NETWORK VIA METHYL-LYSINE SIGNALING.REF NUCLEIC ACIDS RES. V. 39 6380 2011REFN ISSN 0305-1048PMID 21515635DOI 10.1093/NAR/GKR256 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3OES.A | RHEBL1

General Structure Information 3oes RHEBL1 crystal structure of the small gtpase rhebl1 2.3Å AUTH L.NEDYALKOVA,N.ZHONG,W.TEMPEL,Y.TONG,L.SHEN,P.LOPPNAU,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,A.BOCHKAREV,AUTH 3 H.PARKTITL CRYSTAL STRUCTURE OF THE SMALL GTPASE RHEBL1REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3QYE.B | TBC1D1

General Structure Information 3qye TBC1D1 crystal structure of human tbc1d1 rabgap domain 2.2Å AUTH S.Y.PARK,W.JIN,J.R.WOO,S.E.SHOELSONTITL CRYSTAL STRUCTURES OF HUMAN TBC1D1 AND TBC1D4 (AS160)TITL 2 RABGTPASE-ACTIVATING PROTEIN (RABGAP) DOMAINS REVEALTITL 3 CRITICAL ELEMENTS FOR GLUT4 TRANSLOCATION.REF J.BIOL.CHEM. V. 286 18130 2011REFN ISSN 0021-9258PMID 21454505DOI 10.1074/JBC.M110.217323 Variant Set Distributions Mapped Variants

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3FKC.A | ZBTB33

General Structure Information 3fkc ZBTB33 crystal structure of human zinc finger and btb domain containing 33 1.7Å AUTH P.FILIPPAKOPOULOS,A.BULLOCK,T.KEATES,N.BURGESS-BROWN,AUTH 2 J.MUNIZ,F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,J.WEIGELT,AUTH 3 C.BOUNTRA,S.KNAPPTITL CRYSTAL STRUCTURE OF HUMAN ZINC FINGER AND BTB DOMAINTITL 2 CONTAINING 33REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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1MP1.A | SRRM1

General Structure Information 1mp1 SRRM1 solution structure of the pwi motif from srm160 -1.0Å AUTH B.R.SZYMCZYNA,J.BOWMAN,S.MCCRACKEN,A.PINEDA-LUCENA,AUTH 2 Y.LU,B.COX,M.LAMBERMON,B.R.GRAVELEY,C.H.ARROWSMITH,AUTH 3 B.J.BLENCOWETITL STRUCTURE AND FUNCTION OF THE PWI MOTIF: A NOVELTITL 2 NUCLEIC ACID-BINDING DOMAIN THAT FACILITATESTITL 3 PRE-MRNA PROCESSING.REF GENES DEV. V. 17 461 2003REFN ISSN 0890-9369PMID 12600940DOI 10.1101/GAD.1060403 Variant Set Distributions Mapped Variants

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2WEK.A | ZADH2

General Structure Information 2wek ZADH2 crystal structure of the human mgc45594 gene product in complex with diclofenac 1.9Å AUTH N.SHAFQAT,W.W.YUE,F.NIESEN,U.OPPERMANNTITL CRYSTAL STRUCTURE OF THE HUMAN MGC45594 GENE PRODUCT INTITL 2 COMPLEX WITH DICLOFENACREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3UN9.A | NLRX1

General Structure Information 3un9 NLRX1 crystal structure of an immune receptor 2.65Å AUTH M.HONG,S.I.YOON,I.A.WILSONTITL STRUCTURE AND FUNCTIONAL CHARACTERIZATION OF THE RNA-BINDINGTITL 2 ELEMENT OF THE NLRX1 INNATE IMMUNE MODULATOR.REF IMMUNITY V. 36 337 2012REFN ISSN 1074-7613PMID 22386589DOI 10.1016/J.IMMUNI.2011.12.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2AFT.X | SUMF1

General Structure Information 2aft SUMF1 formylglycine generating enzyme c336s mutant 1.66Å AUTH D.ROESER,A.PREUSSER-KUNZE,B.SCHMIDT,K.GASOW,J.G.WITTMANN,AUTH 2 T.DIERKS,K.VON FIGURA,M.G.RUDOLPHTITL A GENERAL BINDING MECHANISM FOR ALL HUMAN SULFATASES BY THETITL 2 FORMYLGLYCINE-GENERATING ENZYMEREF PROC.NATL.ACAD.SCI.USA V. 103 81 2006REFN ISSN 0027-8424PMID 16368756DOI 10.1073/PNAS.0507592102 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4A35.A | ENOSF1

General Structure Information 4a35 ENOSF1 crystal structure of human mitochondrial enolase superfamily member 1 (enosf1) 1.74Å AUTH J.R.C.MUNIZ,D.S.FROESE,T.KROJER,M.VOLLMAR,P.CANNING,AUTH 2 U.OPPERMANN,C.H.ARROWSMITH,A.M.EDWARDS,J.WEIGELT,C.BOUNTRA,AUTH 3 F.VON DELFT,W.W.YUETITL CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIAL ENOLASETITL 2 SUPERFAMILY MEMBER 1 (ENOSF1)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2V90.E | PDZD3

General Structure Information 2v90 PDZD3 crystal structure of the 3rd pdz domain of intestine- and kidney-enriched pdz domain ikepp (pdzd3) 2.0Å AUTH J.UPPENBERG,C.GILEADI,C.PHILLIPS,J.ELKINS,G.BUNKOCZI,AUTH 2 C.COOPER,A.C.W.PIKE,E.SALAH,E.UGOCHUKWU,C.H.ARROWSMITH,AUTH 3 A.EDWARDS,M.SUNDSTROM,J.WEIGELT,D.A.DOYLETITL CRYSTAL STRUCTURE OF THE 3RD PDZ DOMAIN OF INTESTINE- ANDTITL 2 KIDNEY-ENRICHED PDZ DOMAIN IKEPP ( PDZD3)REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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