6JDW.A | GATM

General Structure Information 6jdw GATM crystal structure of human l-arginine:glycine amidinotransferase in complex with gamma-amino butyric acid 2.5Å AUTH E.FRITSCHE,A.HUMM,R.HUBERTITL THE LIGAND-INDUCED STRUCTURAL CHANGES OF HUMANTITL 2 L-ARGININE:GLYCINE AMIDINOTRANSFERASE. ATITL 3 MUTATIONAL AND CRYSTALLOGRAPHIC STUDY.REF J.BIOL.CHEM. V. 274 3026 1999REFN ISSN 0021-9258PMID 9915841DOI 10.1074/JBC.274.5.3026 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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1H7U.B | PMS2

General Structure Information 1h7u PMS2 hpms2-atpgs 2.7Å AUTH A.GUARNE,M.S.JUNOP,W.YANGTITL STRUCTURE AND FUNCTION OF THE N-TERMINAL 40 KDA FRAGMENT OFTITL 2 HUMAN PMS2: A MONOMERIC GHL ATPASEREF EMBO J. V. 20 5521 2001REFN ISSN 0261-4189PMID 11574484DOI 10.1093/EMBOJ/20.19.5521 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2J6L.F | ALDH7A1

General Structure Information 2j6l ALDH7A1 structure of aminoadipate-semialdehyde dehydrogenase 1.3Å AUTH C.BROCKER,N.LASSEN,T.ESTEY,A.PAPPA,M.CANTORE,V.V.ORLOVA,AUTH 2 T.CHAVAKIS,K.L.KAVANAGH,U.OPPERMANN,V.VASILIOUTITL ALDEHYDE DEHYDROGENASE 7A1 (ALDH7A1) IS A NOVEL ENZYMETITL 2 INVOLVED IN CELLULAR DEFENSE AGAINST HYPEROSMOTIC STRESS.REF J.BIOL.CHEM. V. 285 18452 2010REFN ISSN 0021-9258PMID 20207735DOI 10.1074/JBC.M109.077925 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2UXW.A | ACADVL

General Structure Information 2uxw ACADVL crystal structure of human very long chain acyl-coa dehydrogenase (acadvl) 1.45Å AUTH A.C.W.PIKE,V.HOZJAN,C.SMEE,G.BERRIDGE,N.BURGESS,E.SALAH,AUTH 2 G.BUNKOCZI,J.UPPENBERG,E.UGOCHUKWU,F.VON DELFT,AUTH 3 C.H.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN VERY LONG CHAIN ACYL- COATITL 2 DEHYDROGENASE (ACADVL)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3PDF.A | CTSC

General Structure Information 3pdf CTSC discovery of novel cyanamide-based inhibitors of cathepsin c 1.85Å AUTH D.LAINE,M.PALOVICH,P.MCCLELAND,E.PETITJEAN,I.DELHOM,H.XIE,AUTH 2 J.DENG,G.LIN,R.DAVIS,A.JOLIT,N.NEVINS,J.VILLA,J.SCHNECKTITL DISCOVERY OF NOVEL CYANAMIDE-BASED INHIBITORS OF CATHEPSIN CREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2HGS.A | GSS

General Structure Information 2hgs GSS human glutathione synthetase 2.1Å AUTH G.POLEKHINA,P.G.BOARD,R.R.GALI,J.ROSSJOHN,AUTH 2 M.W.PARKERTITL MOLECULAR BASIS OF GLUTATHIONE SYNTHETASETITL 2 DEFICIENCY AND A RARE GENE PERMUTATION EVENT.REF EMBO J. V. 18 3204 1999REFN ISSN 0261-4189PMID 10369661DOI 10.1093/EMBOJ/18.12.3204 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3LAW.C | RAB7A

General Structure Information 3law RAB7A structure of gtp-bound l129f mutant rab7 2.8Å AUTH B.A.MCCRAY,E.SKORDALAKES,J.P.TAYLORTITL DISEASE MUTATIONS IN RAB7 RESULT IN UNREGULATED NUCLEOTIDETITL 2 EXCHANGE AND INAPPROPRIATE ACTIVATION.REF HUM.MOL.GENET. V. 19 1033 2010REFN ISSN 0964-6906PMID 20028791DOI 10.1093/HMG/DDP567 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4CDG.B | BLM

General Structure Information 4cdg BLM crystal structure of the blooms syndrome helicase blm in complex with nanobody 2.79Å AUTH J.A.NEWMAN,P.SAVITSKY,C.K.ALLERSTON,A.H.BIZARD,O.OZER,AUTH 2 K.SARLOS,Y.LIU,E.PARDON,J.STEYAERT,I.D.HICKSON,O.GILEADITITL CRYSTAL STRUCTURE OF THE BLOOMS SYNDROME HELICASETITL 2 INDICATES A ROLE FOR THE HRDC DOMAIN IN CONFORMATIONALTITL 3 CHANGES.REF NUCLEIC ACIDS RES. V. 43 5221 2015REFN ISSN 0305-1048PMID 25901030DOI 10.1093/NAR/GKV373 Variant Set Distributions […]

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1AV5.B | HINT1

General Structure Information 1av5 HINT1 pkci-substrate analog 2.0Å AUTH C.D.LIMA,M.G.KLEIN,W.A.HENDRICKSONTITL STRUCTURE-BASED ANALYSIS OF CATALYSIS ANDTITL 2 SUBSTRATE DEFINITION IN THE HIT PROTEIN FAMILY.REF SCIENCE V. 278 286 1997REFN ISSN 0036-8075PMID 9323207DOI 10.1126/SCIENCE.278.5336.286 Variant Set Distributions Mapped Variants

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3CAQ.B | AKR1D1

General Structure Information 3caq AKR1D1 crystal structure of 5beta-reductase (akr1d1) in complex with nadph 2.2Å AUTH F.FAUCHER,L.CANTIN,V.LUU-THE,F.LABRIE,R.BRETONTITL CRYSTAL STRUCTURES OF HUMAN DELTA4-3-KETOSTEROIDTITL 2 5BETA-REDUCTASE (AKR1D1) REVEAL THE PRESENCE OF ANTITL 3 ALTERNATIVE BINDING SITE RESPONSIBLE FOR SUBSTRATETITL 4 INHIBITION (DAGGER) (,) (DOUBLE DAGGER).REF BIOCHEMISTRY V. 47 13537 2008REFN ISSN 0006-2960PMID 19075558DOI 10.1021/BI801276H Variant Set Distributions […]

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