2A98.A | ITPKC

General Structure Information 2a98 ITPKC crystal structure of the catalytic domain of human inositol 1,4,5- trisphosphate 3-kinase c 2.6Å AUTH B.M.HALLBERG,D.OGG,C.ARROWSMITH,A.EDWARDS,M.EHN,S.GRASLUND,AUTH 2 M.HAMMARSTROM,T.KOTENYOVA,P.NILSSON-EHLE,P.NORDLUND,AUTH 3 C.PERSSON,J.SAGEMARK,H.SCHULER,P.STENMARK,A.-G.THORSELL,AUTH 4 M.SUNDSTROM,J.WEIGELTTITL THE CRYSTAL STRUCTURE OF THE CATALYTIC DOMAIN OF HUMANTITL 2 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE CREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3I4R.B | NUP133

General Structure Information 3i4r NUP133 nup107(aa658-925)/nup133(aa517-1156) complex, h.sapiens 3.53Å AUTH J.R.WHITTLE,T.U.SCHWARTZTITL ARCHITECTURAL NUCLEOPORINS NUP157/170 AND NUP133TITL 2 ARE STRUCTURALLY RELATED AND DESCEND FROM A SECONDTITL 3 ANCESTRAL ELEMENT.REF J.BIOL.CHEM. V. 284 28442 2009REFN ISSN 0021-9258PMID 19674973DOI 10.1074/JBC.M109.023580 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3NNC.A | CELF1

General Structure Information 3nnc CELF1 crystal structure of cugbp1 rrm1/2-rna complex 2.2Å AUTH M.TEPLOVA,J.SONG,H.Y.GAW,A.TEPLOV,D.J.PATELTITL STRUCTURAL INSIGHTS INTO RNA RECOGNITION BY THETITL 2 ALTERNATE-SPLICING REGULATOR CUG-BINDING PROTEIN 1.REF STRUCTURE V. 18 1364 2010REFN ISSN 0969-2126PMID 20947024DOI 10.1016/J.STR.2010.06.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4LJQ.A | RNF31

General Structure Information 4ljq RNF31 crystal structure of the catalytic core of e3 ligase hoip 2.45Å AUTH B.STIEGLITZ,R.R.RANA,M.G.KOLIOPOULOS,A.C.MORRIS-DAVIES,AUTH 2 V.SCHAEFFER,E.CHRISTODOULOU,S.HOWELL,N.R.BROWN,I.DIKIC,AUTH 3 K.RITTINGERTITL STRUCTURAL BASIS FOR LIGASE-SPECIFIC CONJUGATION OF LINEARTITL 2 UBIQUITIN CHAINS BY HOIP.REF NATURE V. 503 422 2013REFN ISSN 0028-0836PMID 24141947DOI 10.1038/NATURE12638 Variant Set Distributions Mapped Variants

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2CRA.A | HOXB13

General Structure Information 2cra HOXB13 solution structure of the homeobox domain of human homeo box b13 -1.0Å AUTH K.SEIMIYA,F.HAYASHI,T.NAGASHIMA,M.YOSHIDA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE HOMEOBOX DOMAIN OF HUMANTITL 2 HOMEO BOX B13REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1TWQ.A | PGLYRP3

General Structure Information 1twq PGLYRP3 crystal structure of the c-terminal pgn-binding domain of human pgrp- ialpha in complex with pgn analog muramyl tripeptide 2.3Å AUTH R.GUAN,A.ROYCHOWDHURY,B.EMBER,S.KUMAR,G.-A.BOONS,AUTH 2 R.A.MARIUZZATITL STRUCTURAL BASIS FOR PEPTIDOGLYCAN BINDING BY PEPTIDOGLYCANTITL 2 RECOGNITION PROTEINSREF PROC.NATL.ACAD.SCI.USA V. 101 17168 2004REFN ISSN 0027-8424PMID 15572450DOI 10.1073/PNAS.0407856101 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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1LT8.A | BHMT

General Structure Information 1lt8 BHMT reduced homo sapiens betaine-homocysteine s- methyltransferase in complex with s-(delta-carboxybutyl)-l- homocysteine 2.05Å AUTH J.C.EVANS,D.P.HUDDLER,J.JIRACEK,C.CASTRO,AUTH 2 N.S.MILLIAN,T.A.GARROW,M.L.LUDWIGTITL BETAINE-HOMOCYSTEINE METHYLTRANSFERASE: ZINC IN ATITL 2 DISTORTED BARREL.REF STRUCTURE V. 10 1159 2002REFN ISSN 0969-2126PMID 12220488DOI 10.1016/S0969-2126(02)00796-7 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3C0Y.C | HDAC7

General Structure Information 3c0y HDAC7 crystal structure of catalytic domain of human histone deacetylase hdac7 2.1Å AUTH A.SCHUETZ,J.MIN,A.ALLALI-HASSANI,M.SCHAPIRA,AUTH 2 M.SHUEN,P.LOPPNAU,R.MAZITSCHEK,N.P.KWIATKOWSKI,AUTH 3 T.A.LEWIS,R.L.MAGLATHIN,T.H.MCLEAN,A.BOCHKAREV,AUTH 4 A.N.PLOTNIKOV,M.VEDADI,C.H.ARROWSMITHTITL HUMAN HDAC7 HARBORS A CLASS IIA HISTONETITL 2 DEACETYLASE-SPECIFIC ZINC BINDING MOTIF AND CRYPTICTITL 3 DEACETYLASE ACTIVITY.REF J.BIOL.CHEM. V. 283 11355 2008REFN ISSN 0021-9258PMID 18285338DOI 10.1074/JBC.M707362200 Variant Set Distributions Mapped Variants

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2LBC.A | USP13

General Structure Information 2lbc USP13 solution structure of tandem uba of usp13 -1.0Å AUTH Y.ZHANG,C.ZHOU,Z.ZHOU,A.SONG,H.HUTITL DOMAIN ANALYSIS REVEALS THAT A DEUBIQUITINATING ENZYME USP13TITL 2 PERFORMS NON-ACTIVATING CATALYSIS FOR LYS63-LINKEDTITL 3 POLYUBIQUITIN.REF PLOS ONE V. 6 29362 2011REFN ESSN 1932-6203PMID 22216260DOI 10.1371/JOURNAL.PONE.0029362 Variant Set Distributions Mapped Variants

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2CM0.A | NGLY1

General Structure Information 2cm0 NGLY1 the pub domain functions as a p97 binding module in human peptide n-glycanase. 1.9Å AUTH M.D.ALLEN,A.BUCHBERGER,M.BYCROFTTITL THE PUB DOMAIN FUNCTIONS AS A P97 BINDING MODULETITL 2 IN HUMAN PEPTIDE N-GLYCANASE.REF J.BIOL.CHEM. V. 281 25502 2006REFN ISSN 0021-9258PMID 16807242DOI 10.1074/JBC.M601173200 Variant Set Distributions Mapped Variants

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