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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2CP0.A | CLIP3

General Structure Information 2cp0 CLIP3 solution structure of the 1st cap-gly domain in human clip- 170-related protein clipr59 -1.0Å AUTH K.SAITO,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE 1ST CAP-GLY DOMAIN INTITL 2 HUMAN CLIP-170-RELATED PROTEIN CLIPR59REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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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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2KXJ.A | UBXN4

General Structure Information 2kxj UBXN4 solution structure of ubx domain of human ubxd2 protein -1.0Å AUTH Q.WU,H.HUANG,J.ZHANG,Q.HU,J.WU,Y.SHITITL SOLUTION STRCTURE OF UBX DOMAIN OF HUMAN UBXD2 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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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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4DBG.B | RNF31

General Structure Information 4dbg RNF31 crystal structure of hoil-1l-ubl complexed with a hoip-uba derivative 2.71Å AUTH H.YAGI,K.ISHIMOTO,T.HIROMOTO,H.FUJITA,T.MIZUSHIMA,Y.UEKUSA,AUTH 2 M.YAGI-UTSUMI,E.KURIMOTO,M.NODA,S.UCHIYAMA,F.TOKUNAGA,AUTH 3 K.IWAI,K.KATOTITL A NON-CANONICAL UBA-UBL INTERACTION FORMS THETITL 2 LINEAR-UBIQUITIN-CHAIN ASSEMBLY COMPLEXREF EMBO REP. V. 13 462 2012REFN ISSN 1469-221XPMID 22430200DOI 10.1038/EMBOR.2012.24 Variant Set Distributions Mapped Variants

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3FDW.A | SYTL4

General Structure Information 3fdw SYTL4 crystal structure of a c2 domain from human synaptotagmin- like protein 4 2.2Å AUTH J.B.BONANNO,M.RUTTER,K.T.BAIN,S.MILLER,R.ROMERO,AUTH 2 S.WASSERMAN,J.M.SAUDER,S.K.BURLEY,S.C.ALMOTITL CRYSTAL STRUCTURE OF A C2 DOMAIN FROM HUMANTITL 2 SYNAPTOTAGMIN-LIKE PROTEIN 4REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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