2RMN.A | TP63

General Structure Information 2rmn TP63 the solution structure of the p63 dna-binding domain -1.0Å AUTH A.ENTHART,J.FURRER,A.DEHNER,H.KESSLERTITL SOLUTION STRUCTURE AND BINDING STUDIES OF THE P63TITL 2 DNA BINDING DOMAINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3HVE.A | GAN

General Structure Information 3hve GAN structures of spop-substrate complexes: insights into molecular architectures of btb-cul3 ubiquitin ligases: gigaxoninbtb/3-box 2.8Å AUTH M.ZHUANG,M.F.CALABRESE,J.LIU,M.B.WADDELL,A.NOURSE,AUTH 2 M.HAMMEL,D.J.MILLER,H.WALDEN,D.M.DUDA,S.N.SEYEDIN,AUTH 3 T.HOGGARD,J.W.HARPER,K.P.WHITE,B.A.SCHULMANTITL STRUCTURES OF SPOP-SUBSTRATE COMPLEXES: INSIGHTSTITL 2 INTO MOLECULAR ARCHITECTURES OF BTB-CUL3 UBIQUITINTITL 3 LIGASES.REF MOL.CELL V. 36 39 2009REFN ISSN 1097-2765PMID 19818708DOI 10.1016/J.MOLCEL.2009.09.022 Variant Set Distributions Ripley’s K Analysis Plots […]

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3HY8.A | PNPO

General Structure Information 3hy8 PNPO crystal structure of human pyridoxine 5-phosphate oxidase r229w mutant 2.5Å AUTH F.N.MUSAYEV,M.L.DI SALVO,M.A.SAAVEDRA,R.CONTESTABILE,AUTH 2 M.S.GHATGE,A.HAYNES,V.SCHIRCH,M.K.SAFOTITL MOLECULAR BASIS OF REDUCED PYRIDOXINE 5-PHOSPHATE OXIDASETITL 2 CATALYTIC ACTIVITY IN NEONATAL EPILEPTIC ENCEPHALOPATHYTITL 3 DISORDERREF J.BIOL.CHEM. V. 284 30949 2009REFN ISSN 0021-9258PMID 19759001DOI 10.1074/JBC.M109.038372 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3S4Y.B | TPK1

General Structure Information 3s4y TPK1 crystal structure of human thiamin pyrophosphokinase 1 1.8Å AUTH L.SHEN,W.TEMPEL,Y.TONG,Y.LI,J.R.WALKER,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN THIAMIN PYROPHOSPHOKINASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3KJO.A | POT1

General Structure Information 3kjo POT1 crystal structure of hpot1v2-dtrud(agggttag) 1.8Å AUTH J.NANDAKUMAR,E.R.PODELL,T.R.CECHTITL HOW TELOMERIC PROTEIN POT1 AVOIDS RNA TO ACHIEVETITL 2 SPECIFICITY FOR SINGLE-STRANDED DNA.REF PROC.NATL.ACAD.SCI.USA V. 107 651 2010REFN ISSN 0027-8424PMID 20080730DOI 10.1073/PNAS.0911099107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DX1.A | TRPV4

General Structure Information 4dx1 TRPV4 crystal structure of the human trpv4 ankyrin repeat domain 2.85Å AUTH H.INADA,E.PROCKO,M.SOTOMAYOR,R.GAUDETTITL STRUCTURAL AND BIOCHEMICAL CONSEQUENCES OF DISEASE-CAUSINGTITL 2 MUTATIONS IN THE ANKYRIN REPEAT DOMAIN OF THE HUMAN TRPV4TITL 3 CHANNEL.REF BIOCHEMISTRY V. 51 6195 2012REFN ISSN 0006-2960PMID 22702953DOI 10.1021/BI300279B Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1KQO.A | NMNAT1

General Structure Information 1kqo NMNAT1 crystal structure of nmn/namn adenylyltransferase complexed with deamido-nad 2.5Å AUTH T.ZHOU,O.KURNASOV,D.R.TOMCHICK,D.D.BINNS,N.V.GRISHIN,AUTH 2 V.E.MARQUEZ,A.L.OSTERMAN,H.ZHANGTITL STRUCTURE OF HHUMAN OF NICOTINAMIDE/NICOTINIC ACIDTITL 2 MONONUCLEOTIDE ADENYLYLTRANSFERASE. BASIS FOR THE DUALTITL 3 SUBSTRATE SPECIFICITY AND ACTIVATION OF THE ONCOLYTIC AGENTTITL 4 TIAZOFURIN.REF J.BIOL.CHEM. V. 277 13148 2002REFN ISSN 0021-9258PMID 11788603DOI 10.1074/JBC.M111469200 Variant Set Distributions Ripley’s […]

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2Y9T.A | TP63

General Structure Information 2y9t TP63 structural basis of p63a sam domain mutants involved in aec syndrome -1.0Å AUTH A.SATHYAMURTHY,S.M.V.FREUND,C.M.JOHNSON,M.D.ALLEN,M.BYCROFTTITL STRUCTURAL BASIS OF P63ALPHA SAM DOMAIN MUTANTS INVOLVED INTITL 2 AEC SYNDROME.REF FEBS J. V. 278 2680 2011REFN ISSN 1742-464XPMID 21615690DOI 10.1111/J.1742-4658.2011.08194.X Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2RFI.A | EHMT1

General Structure Information 2rfi EHMT1 crystal structure of catalytic domain of human euchromatic histone methyltransferase 1 in complex with sah and dimethylated h3k9 peptide 1.59Å AUTH H.WU,J.MIN,V.V.LUNIN,T.ANTOSHENKO,L.DOMBROVSKI,AUTH 2 H.ZENG,A.ALLALI-HASSANI,V.CAMPAGNA-SLATER,M.VEDADI,AUTH 3 C.H.ARROWSMITH,A.N.PLOTNIKOV,M.SCHAPIRATITL STRUCTURAL BIOLOGY OF HUMAN H3K9 METHYLTRANSFERASESREF PLOS ONE V. 5 E8570 2010REFN ESSN 1932-6203PMID 20084102DOI 10.1371/JOURNAL.PONE.0008570 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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2P39.A | FGF23

General Structure Information 2p39 FGF23 crystal structure of human fgf23 1.5Å AUTH R.GOETZ,A.BEENKEN,O.A.IBRAHIMI,J.KALININA,AUTH 2 S.K.OLSEN,A.V.ELISEENKOVA,C.XU,T.A.NEUBERT,F.ZHANG,AUTH 3 R.J.LINHARDT,X.YU,K.E.WHITE,T.INAGAKI,S.A.KLIEWER,AUTH 4 M.YAMAMOTO,H.KUROSU,Y.OGAWA,M.KURO-O,B.LANSKE,AUTH 5 M.S.RAZZAQUE,M.MOHAMMADITITL MOLECULAR INSIGHTS INTO THE KLOTHO-DEPENDENT,TITL 2 ENDOCRINE MODE OF ACTION OF FIBROBLAST GROWTHTITL 3 FACTOR 19 SUBFAMILY MEMBERS.REF MOL.CELL.BIOL. V. 27 3417 2007REFN ISSN 0270-7306PMID 17339340DOI 10.1128/MCB.02249-06 Variant Set Distributions Ripley’s K Analysis Plots […]

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