2D7R.A | GALNT10

General Structure Information 2d7r GALNT10 crystal structure of pp-galnac-t10 complexed with galnac-ser on lectin domain 2.8Å AUTH T.KUBOTA,T.SHIBA,S.SUGIOKA,S.FURUKAWA,H.SAWAKI,R.KATO,AUTH 2 S.WAKATSUKI,H.NARIMATSUTITL STRUCTURAL BASIS OF CARBOHYDRATE TRANSFER ACTIVITY BY HUMANTITL 2 UDP-GALNAC: POLYPEPTIDETITL 3 ALPHA-N-ACETYLGALACTOSAMINYLTRANSFERASE (PP-GALNAC-T10)REF J.MOL.BIOL. V. 359 708 2006REFN ISSN 0022-2836PMID 16650853DOI 10.1016/J.JMB.2006.03.061 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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4FMW.B | TRMT10A

General Structure Information 4fmw TRMT10A crystal structure of methyltransferase domain of human rna (guanine-9- ) methyltransferase domain containing protein 2 2.0Å AUTH H.ZENG,A.DONG,P.LOPPNAU,W.TEMPEL,C.BOUNTRA,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,H.WUTITL CRYSTAL STRUCTURE OF METHYLTRANSFERASE DOMAIN OF HUMAN RNATITL 2 (GUANINE-9-) METHYLTRANSFERASE DOMAIN CONTAINING PROTEIN 2REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3SMP.B | PANK1

General Structure Information 3smp PANK1 monoclinic crystal structure of human pantothenate kinase 1 alpha 1.9Å AUTH X.GUAN,W.TEMPEL,B.HONG,A.K.WERNIMONT,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,H.PARKTITL MONOCLINIC CRYSTAL STRUCTURE OF HUMAN PANTOTHENATE KINASE 1TITL 2 ALPHAREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1H3I.B | SETD7

General Structure Information 1h3i SETD7 crystal structure of the histone methyltransferase set7/9 2.1Å AUTH J.R.WILSON,C.JING,P.A.WALKER,S.R.MARTIN,S.A.HOWELL,AUTH 2 G.M.BLACKBURN,S.J.GAMBLIN,B.XIAOTITL CRYSTAL STRUCTURE AND FUNCTIONAL ANALYSIS OF THETITL 2 HISTONE METHYLTRANSFERASE SET7/9REF CELL(CAMBRIDGE,MASS.) V. 111 105 2002REFN ISSN 0092-8674PMID 12372304DOI 10.1016/S0092-8674(02)00964-9 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2L2L.A | GATAD2A

General Structure Information 2l2l GATAD2A solution structure of the coiled-coil complex between mbd2 and p66alpha -1.0Å AUTH M.N.GNANAPRAGASAM,J.N.SCARSDALE,M.L.AMAYA,H.D.WEBB,AUTH 2 M.A.DESAI,N.M.WALAVALKAR,S.Z.WANG,S.ZU ZHU,G.D.GINDER,AUTH 3 D.C.WILLIAMSTITL P66ALPHA-MBD2 COILED-COIL INTERACTION AND RECRUITMENT OFTITL 2 MI-2 ARE CRITICAL FOR GLOBIN GENE SILENCING BY THE MBD2-NURDTITL 3 COMPLEX.REF PROC.NATL.ACAD.SCI.USA V. 108 7487 2011REFN ISSN 0027-8424PMID 21490301DOI 10.1073/PNAS.1015341108 Variant Set Distributions Mapped […]

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3EU9.B | ZDHHC17

General Structure Information 3eu9 ZDHHC17 the ankyrin repeat domain of huntingtin interacting protein 14 1.99Å AUTH T.GAO,R.E.COLLINS,J.R.HORTON,X.ZHANG,R.ZHANG,A.DHAYALAN,AUTH 2 R.TAMAS,A.JELTSCH,X.CHENGTITL THE ANKYRIN REPEAT DOMAIN OF HUNTINGTIN INTERACTING PROTEINTITL 2 14 CONTAINS A SURFACE AROMATIC CAGE, A POTENTIAL SITE FORTITL 3 METHYL-LYSINE BINDING.REF PROTEINS V. 76 772 2009REFN ISSN 0887-3585PMID 19434754DOI 10.1002/PROT.22452 Variant Set Distributions Mapped Variants

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3GNI.B | STRADA

General Structure Information 3gni STRADA structure of strad and mo25 2.35Å AUTH E.ZEQIRAJ,B.M.FILIPPI,S.GOLDIE,I.NAVRATILOVA,J.BOUDEAU,AUTH 2 M.DEAK,D.R.ALESSI,D.M.VAN AALTENTITL ATP AND MO25ALPHA REGULATE THE CONFORMATIONAL STATE OF THETITL 2 STRADALPHA PSEUDOKINASE AND ACTIVATION OF THE LKB1 TUMOURTITL 3 SUPPRESSORREF PLOS BIOL. V. 7 E1000 2009REFN ISSN 1544-9173PMID 19513107DOI 10.1371/JOURNAL.PBIO.1000126 Variant Set Distributions Mapped Variants

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3SMT.A | SETD3

General Structure Information 3smt SETD3 crystal structure of human set domain-containing protein3 2.04Å AUTH H.ZENG,A.DONG,J.R.WALKER,P.LOPPNAU,C.BOUNTRA,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF HUMAN SET DOMAIN-CONTAINING PROTEIN3REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3IHJ.A | GPT2

General Structure Information 3ihj GPT2 human alanine aminotransferase 2 in complex with plp 2.3Å AUTH M.WISNIEWSKA,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,A.KOTZSCH,M.MOCHE,T.K.NIELSEN,P.NORDLUND,AUTH 5 T.NYMAN,C.PERSSON,A.K.ROOS,P.SCHUTZ,L.SVENSSON,A.G.THORSELL,AUTH 6 L.TRESAUGUES,S.VAN DEN BERG,J.WEIGELT,M.WELIN,H.SCHULERTITL HUMAN GLUTAMATE PYRUVATE TRANSAMINASE 2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4K30.Y | NAGS

General Structure Information 4k30 NAGS structure of the n-acetyltransferase domain of human n-acetylglutamate synthase 2.1Å AUTH G.ZHAO,Z.JIN,N.M.ALLEWELL,M.TUCHMAN,D.SHITITL CRYSTAL STRUCTURE OF THE N-ACETYLTRANSFERASE DOMAIN OF HUMANTITL 2 N-ACETYL-L-GLUTAMATE SYNTHASE IN COMPLEX WITHTITL 3 N-ACETYL-L-GLUTAMATE PROVIDES INSIGHTS INTO ITS CATALYTICTITL 4 AND REGULATORY MECHANISMS.REF PLOS ONE V. 8 70369 2013REFN ESSN 1932-6203PMID 23894642DOI 10.1371/JOURNAL.PONE.0070369 Variant Set Distributions […]

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