2RC4.A | KAT6A

General Structure Information 2rc4 KAT6A crystal structure of the hat domain of the human moz protein 3.0Å AUTH M.A.HOLBERT,T.SIKORSKI,J.CARTEN,D.SNOWFLACK,S.HODAWADEKAR,AUTH 2 R.MARMORSTEINTITL THE HUMAN MONOCYTIC LEUKEMIA ZINC FINGER HISTONETITL 2 ACETYLTRANSFERASE DOMAIN CONTAINS DNA-BINDING ACTIVITYTITL 3 IMPLICATED IN CHROMATIN TARGETING.REF J.BIOL.CHEM. V. 282 36603 2007REFN ISSN 0021-9258PMID 17925393DOI 10.1074/JBC.M705812200 Variant Set Distributions Ripley’s K Analysis Plots […]

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2REX.D | RND1

General Structure Information 2rex RND1 crystal structure of the effector domain of plxnb1 bound with rnd1 gtpase 2.3Å AUTH Y.TONG,W.TEMPEL,L.SHEN,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 2 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE EFFECTOR DOMAIN OF PLXNB1 BOUNDTITL 2 WITH RND1 GTPASE.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1L9X.A | GGH

General Structure Information 1l9x GGH structure of gamma-glutamyl hydrolase 1.6Å AUTH H.LI,T.J.RYAN,K.J.CHAVE,P.VAN ROEYTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN GAMMATITL 2 -GLUTAMYL HYDROLASE. A CLASS I GLATAMINETITL 3 AMIDOTRANSFERASE ADAPTED FOR A COMPLEX SUBSTATE.REF J.BIOL.CHEM. V. 277 24522 2002REFN ISSN 0021-9258PMID 11953431DOI 10.1074/JBC.M202020200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3OOI.A | NSD1

General Structure Information 3ooi NSD1 crystal structure of human histone-lysine n-methyltransferase nsd1 set domain in complex with s-adenosyl-l-methionine 1.75Å AUTH Q.QIAO,Y.LI,Z.CHEN,M.WANG,D.REINBERG,R.M.XUTITL THE STRUCTURE OF NSD1 REVEALS AN AUTOREGULATORY MECHANISMTITL 2 UNDERLYING HISTONE H3K36 METHYLATIONREF J.BIOL.CHEM. V. 286 8361 2010REFN ISSN 0021-9258PMID 21196496DOI 10.1074/JBC.M110.204115 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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1NB9.A | RFK

General Structure Information 1nb9 RFK crystal structure of riboflavin kinase 1.7Å AUTH S.KARTHIKEYAN,Q.ZHOU,F.MSEEH,N.V.GRISHIN,A.L.OSTERMAN,AUTH 2 H.ZHANGTITL CRYSTAL STRUCTURE OF HUMAN RIBOFLAVIN KINASE REVEALS A BETATITL 2 BARREL FOLD AND A NOVEL ACTIVE SITE ARCHREF STRUCTURE V. 11 265 2003REFN ISSN 0969-2126PMID 12623014DOI 10.1016/S0969-2126(03)00024-8 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2WJV.A | UPF1

General Structure Information 2wjv UPF1 crystal structure of the complex between human nonsense mediated decay factors upf1 and upf2 2.85Å AUTH M.CLERICI,A.MOURAO,I.GUTSCHE,N.H.GEHRING,M.W.HENTZE,AUTH 2 A.KULOZIK,J.KADLEC,M.SATTLER,S.CUSACKTITL UNUSUAL BIPARTITE MODE OF INTERACTION BETWEEN THETITL 2 NONSENSE-MEDIATED DECAY FACTORS, UPF1 AND UPF2.REF EMBO J. V. 28 2293 2009REFN ISSN 0261-4189PMID 19556969DOI 10.1038/EMBOJ.2009.175 Variant Set Distributions Ripley’s K Analysis Plots […]

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3F70.A | L3MBTL2

General Structure Information 3f70 L3MBTL2 crystal structure of l3mbtl2-h4k20me1 complex 2.1Å AUTH Y.GUO,N.NADY,C.QI,A.ALLALI-HASSANI,H.ZHU,P.PAN,AUTH 2 M.A.ADAMS-CIOABA,M.F.AMAYA,A.DONG,M.VEDADI,M.SCHAPIRA,AUTH 3 R.J.READ,C.H.ARROWSMITH,J.MINTITL METHYLATION-STATE-SPECIFIC RECOGNITION OF HISTONES BY THETITL 2 MBT REPEAT PROTEIN L3MBTL2.REF NUCLEIC ACIDS RES. V. 37 2204 2009REFN ISSN 0305-1048PMID 19233876DOI 10.1093/NAR/GKP086 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DDG.L | OTUB1

General Structure Information 4ddg OTUB1 crystal structure of human otub1/ubch5b~ub/ub 3.3Å AUTH Y.C.JUANG,M.C.LANDRY,M.SANCHES,V.VITTAL,C.C.LEUNG,AUTH 2 D.F.CECCARELLI,A.R.MATEO,J.N.PRUNEDA,D.Y.MAO,R.K.SZILARD,AUTH 3 S.ORLICKY,M.MUNRO,P.S.BRZOVIC,R.E.KLEVIT,F.SICHERI,AUTH 4 D.DUROCHERTITL OTUB1 CO-OPTS LYS48-LINKED UBIQUITIN RECOGNITION TO SUPPRESSTITL 2 E2 ENZYME FUNCTION.REF MOL.CELL V. 45 384 2012REFN ISSN 1097-2765PMID 22325355DOI 10.1016/J.MOLCEL.2012.01.011 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4BX9.A | VPS33A

General Structure Information 4bx9 VPS33A human vps33a in complex with a fragment of human vps16 2.6Å AUTH S.C.GRAHAM,L.WARTOSCH,S.R.GRAY,E.J.SCOURFIELD,J.E.DEANE,AUTH 2 J.P.LUZIO,D.J.OWENTITL STRUCTURAL BASIS OF VPS33A RECRUITMENT TO THE HUMAN HOPSTITL 2 COMPLEX BY VPS16.REF PROC.NATL.ACAD.SCI.USA V. 110 13345 2013REFN ISSN 0027-8424PMID 23901104DOI 10.1073/PNAS.1307074110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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4AKV.A | SNX33

General Structure Information 4akv SNX33 crystal structure of human sorting nexin 33 (snx33) 2.65Å AUTH A.OBERHOLZER,D.S.FROESE,T.KROJER,L.SHRESTHA,AUTH 2 P.FILIPPAKOPOULOS,J.R.C.MUNIZ,F.VON DELFT,C.ARROWSMITH,AUTH 3 J.WEIGELT,A.EDWARDS,C.BOUNTRA,W.W.YUETITL STRUCTURE OF HUMAN SORTING NEXIN 33REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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