3NO8.B | BTBD2

General Structure Information 3no8 BTBD2 crystal structure of the phr domain from human btbd2 protein 2.2Å AUTH P.SAMPATHKUMARTITL CRYSTAL STRUCTURE OF THE PHR DOMAIN FROM HUMAN BTBD2 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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4LDQ.A | MRI1

General Structure Information 4ldq MRI1 crystal structure of the mediator of rho dependent invasion 2.5Å AUTH P.D.TEMPLETON,E.S.LITMAN,S.I.METZNER,N.G.AHN,M.C.SOUSATITL STRUCTURE OF MEDIATOR OF RHOA-DEPENDENT INVASION (MRDI)TITL 2 EXPLAINS ITS DUAL FUNCTION AS A METABOLIC ENZYME AND ATITL 3 MEDIATOR OF CELL INVASION.REF BIOCHEMISTRY V. 52 5675 2013REFN ISSN 0006-2960PMID 23859498DOI 10.1021/BI400556E Variant Set Distributions Mapped Variants

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2XNK.B | TOPBP1

General Structure Information 2xnk TOPBP1 structure and function of the rad9-binding region of the dna damage checkpoint adaptor topbp1 2.6Å AUTH M.RAPPAS,A.W.OLIVER,L.H.PEARLTITL STRUCTURE AND FUNCTION OF THE RAD9-BINDING REGION OF THETITL 2 DNA-DAMAGE CHECKPOINT ADAPTOR TOPBP1.REF NUCLEIC ACIDS RES. V. 39 313 2011REFN ISSN 0305-1048PMID 20724438DOI 10.1093/NAR/GKQ743 Variant Set Distributions Mapped Variants

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2A2N.A | PPWD1

General Structure Information 2a2n PPWD1 crystal structure of the peptidylprolyl isomerase domain of human ppwd1 1.65Å AUTH T.L.DAVIS,J.R.WALKER,H.OUYANG,F.MACKENZIE,C.BUTLER-COLE,AUTH 2 E.M.NEWMAN,E.Z.EISENMESSER,S.DHE-PAGANONTITL THE CRYSTAL STRUCTURE OF HUMAN WD40 REPEAT-CONTAININGTITL 2 PEPTIDYLPROLYL ISOMERASE (PPWD1).REF FEBS J. V. 275 2283 2008REFN ISSN 1742-464XPMID 18397323DOI 10.1111/J.1742-4658.2008.06381.X Variant Set Distributions Mapped Variants

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2VX2.D | ECHDC3

General Structure Information 2vx2 ECHDC3 crystal structure of human enoyl coenzyme a hydratase domain-containing protein 3 (echdc3) 2.3Å AUTH W.W.YUE,K.GUO,G.KOCHAN,E.PILKA,J.W.MURRAY,E.SALAH,R.COCKING,AUTH 2 Z.SUN,A.K.ROOS,A.C.W.PIKE,P.FILIPPAKOPOULOS,C.ARROWSMITH,AUTH 3 M.WIKSTROM,A.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN ENOYL COENZYME A HYDRATASETITL 2 DOMAIN-CONTAINING PROTEIN 3 (ECHDC3)REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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1SO0.D | GALM

General Structure Information 1so0 GALM crystal structure of human galactose mutarotase complexed with galactose 2.3Å AUTH J.B.THODEN,D.J.TIMSON,R.J.REECE,H.M.HOLDENTITL MOLECULAR STRUCTURE OF HUMAN GALACTOSE MUTAROTASEREF J.BIOL.CHEM. V. 279 23431 2004REFN ISSN 0021-9258PMID 15026423DOI 10.1074/JBC.M402347200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2FUE.A | PMM1

General Structure Information 2fue PMM1 human alpha-phosphomannomutase 1 with d-mannose 1-phosphate and mg2+ cofactor bound 1.75Å AUTH N.R.SILVAGGI,C.ZHANG,Z.LU,J.DAI,D.DUNAWAY-MARIANO,K.N.ALLENTITL THE X-RAY CRYSTAL STRUCTURES OF HUMANTITL 2 ALPHA-PHOSPHOMANNOMUTASE 1 REVEAL THE STRUCTURAL BASIS OFTITL 3 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A.REF J.BIOL.CHEM. V. 281 14918 2006REFN ISSN 0021-9258PMID 16540464DOI 10.1074/JBC.M601505200 Variant Set Distributions Mapped Variants

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3QC3.B | RPE

General Structure Information 3qc3 RPE crystal structure of a d-ribulose-5-phosphate-3-epimerase (np_954699) from homo sapiens at 2.20 a resolution 2.2Å AUTH JOINT CENTER FOR STRUCTURAL GENOMICS (JCSG)TITL CRYSTAL STRUCTURE OF A D-RIBULOSE-5-PHOSPHATE-3-EPIMERASETITL 2 (NP_954699) FROM HOMO SAPIENS AT 2.20 A RESOLUTIONREF TO BE PUBLISHEDREFN Variant Set Distributions 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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3PH9.A | AGR3

General Structure Information 3ph9 AGR3 crystal structure of the human anterior gradient protein 3 1.83Å AUTH V.D.NGUYEN,L.W.RUDDOCK,M.SALIN,R.K.WIERENGATITL CRYSTAL STRUCTURE OF THE HUMAN ANTERIOR GRADIENT PROTEIN 3REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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