2XEQ.C | PATL1

General Structure Information 2xeq PATL1 human patl1 c-terminal domain 3.1Å AUTH J.E.BRAUN,F.TRITSCHLER,G.HAAS,C.IGREJA,V.TRUFFAULT,AUTH 2 O.WEICHENRIEDER,E.IZAURRALDETITL THE C-TERMINAL ALPHA-ALPHA SUPERHELIX OF PAT ISTITL 2 REQUIRED FOR MRNA DECAPPING IN METAZOA.REF EMBO J. V. 29 2368 2010REFN ISSN 0261-4189PMID 20543818DOI 10.1038/EMBOJ.2010.124 Variant Set Distributions Mapped Variants

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1ZBU.B | ERI1

General Structure Information 1zbu ERI1 crystal structure of full-length 3-exonuclease 3.0Å AUTH Y.CHENG,D.J.PATELTITL STRUCTURAL BASIS FOR 3-END SPECIFIC RECOGNITION OF HISTONETITL 2 MRNA STEM-LOOP BY 3-EXONUCLEASE, A HUMAN NUCLEASE THAT ALSOTITL 3 TARGETS SIRNAREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3IHY.A | PIK3C3

General Structure Information 3ihy PIK3C3 human pik3c3 crystal structure 2.8Å AUTH M.I.SIPONEN,L.TRESAUGUES,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,AUTH 4 T.KARLBERG,T.KOTENYOVA,A.KOTZSCH,T.KRAGH NIELSEN,AUTH 5 M.MOCHE,T.NYMAN,C.PERSSON,A.K.ROOS,J.SAGEMARK,AUTH 6 H.SCHUELER,P.SCHUTZ,A.G.THORSELL,S.VAN DEN BERG,AUTH 7 J.WEIGELT,M.WELIN,M.WISNIEWSKA,P.NORDLUNDTITL HUMAN PIK3C3 CRYSTAL STRUCTUREREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3G07.E | MEPCE

General Structure Information 3g07 MEPCE methyltransferase domain of human bicoid-interacting protein 3 homolog (drosophila) 2.65Å AUTH H.WU,L.DOMBROVSKI,W.TEMPEL,A.MCCARTHY,P.LOPPNAU,AUTH 2 J.MIN,A.N.PLOTNIKOV,H.PARKTITL METHYLTRANSFERASE DOMAIN OF HUMANTITL 2 BICOID-INTERACTING PROTEIN 3 HOMOLOG (DROSOPHILA)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2FMM.E | C11orf30

General Structure Information 2fmm C11orf30 crystal structure of emsy-hp1 complex 1.8Å AUTH Y.HUANG,M.P.MYERS,R.M.XUTITL CRYSTAL STRUCTURE OF THE HP1-EMSY COMPLEX REVEALS AN UNUSUALTITL 2 MODE OF HP1 BINDING.REF STRUCTURE V. 14 703 2006REFN ISSN 0969-2126PMID 16615912DOI 10.1016/J.STR.2006.01.007 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2F4W.B | UBE2J2

General Structure Information 2f4w UBE2J2 human ubiquitin-conjugating enzyme e2 j2 2.0Å AUTH Y.SHENG,J.H.HONG,R.DOHERTY,T.SRIKUMAR,J.SHLOUSH,AUTH 2 G.V.AVVAKUMOV,J.R.WALKER,S.XUE,D.NECULAI,J.W.WAN,S.K.KIM,AUTH 3 C.H.ARROWSMITH,B.RAUGHT,S.DHE-PAGANONTITL A HUMAN UBIQUITIN CONJUGATING ENZYME (E2)-HECT E3 LIGASETITL 2 STRUCTURE-FUNCTION SCREEN.REF MOL CELL PROTEOMICS V. 11 329 2012REFNPMID 22496338DOI 10.1074/MCP.O111.013706 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1WFM.A | SYT13

General Structure Information 1wfm SYT13 the first c2 domain of human synaptotagmin xiii -1.0Å AUTH T.NAGASHIMA,F.HAYASHI,S.YOKOYAMATITL THE FIRST C2 DOMAIN OF HUMAN SYNAPTOTAGMIN XIIIREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2V62.A | VRK2

General Structure Information 2v62 VRK2 structure of vaccinia-related kinase 2 1.7Å AUTH E.D.SCHEEFF,J.ESWARAN,G.BUNKOCZI,S.KNAPP,G.MANNINGTITL STRUCTURE OF THE PSEUDOKINASE VRK3 REVEALS A DEGRADEDTITL 2 CATALYTIC SITE, A HIGHLY CONSERVED KINASE FOLD, AND ATITL 3 PUTATIVE REGULATORY BINDING SITE.REF STRUCTURE V. 17 128 2009REFN ISSN 0969-2126PMID 19141289DOI 10.1016/J.STR.2008.10.018 Variant Set Distributions Mapped Variants

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2DLU.A | INADL

General Structure Information 2dlu INADL solution structure of the second pdz domain of human inad- like protein -1.0Å AUTH K.INOUE,C.KUROSAKI,K.IZUMI,M.YOSHIDA,F.HAYASHI,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE SECOND PDZ DOMAIN OFTITL 2 HUMAN INAD-LIKE PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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4H8S.C | APPL2

General Structure Information 4h8s APPL2 crystal structure of human appl2barph domain 3.5Å AUTH G.J.KING,J.STOCKLI,S.H.HU,B.WINNEN,W.G.DUPREZ,C.C.MEOLI,AUTH 2 J.R.JUNUTULA,R.J.JARROTT,D.E.JAMES,A.E.WHITTEN,J.L.MARTINTITL MEMBRANE CURVATURE PROTEIN EXHIBITS INTERDOMAIN FLEXIBILITYTITL 2 AND BINDS A SMALL GTPASE.REF J.BIOL.CHEM. V. 287 40996 2012REFN ISSN 0021-9258PMID 23055524DOI 10.1074/JBC.M112.349803 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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