3D9S.D | AQP5

General Structure Information 3d9s AQP5 human aquaporin 5 (aqp5) – high resolution x-ray structure 2.0Å AUTH R.HORSEFIELD,K.NORDEN,M.FELLERT,A.BACKMARK,AUTH 2 S.TORNROTH-HORSEFIELD,AUTH 3 A.C.TERWISSCHA VAN SCHELTINGA,J.KVASSMAN,AUTH 4 P.KJELLBOM,U.JOHANSON,R.NEUTZETITL HIGH-RESOLUTION X-RAY STRUCTURE OF HUMAN AQUAPORINTITL 2 5REF PROC.NATL.ACAD.SCI.USA V. 105 13327 2008REFN ISSN 0027-8424PMID 18768791DOI 10.1073/PNAS.0801466105 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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1D5R.A | PTEN

General Structure Information 1d5r PTEN crystal structure of the pten tumor suppressor 2.1Å AUTH J.O.LEE,H.YANG,M.M.GEORGESCU,A.DI CRISTOFANO,AUTH 2 T.MAEHAMA,Y.SHI,J.E.DIXON,P.PANDOLFI,N.P.PAVLETICHTITL CRYSTAL STRUCTURE OF THE PTEN TUMOR SUPPRESSOR:TITL 2 IMPLICATIONS FOR ITS PHOSPHOINOSITIDE PHOSPHATASETITL 3 ACTIVITY AND MEMBRANE ASSOCIATION.REF CELL(CAMBRIDGE,MASS.) V. 99 323 1999REFN ISSN 0092-8674PMID 10555148DOI 10.1016/S0092-8674(00)81663-3 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1YG5.C | HBA2

General Structure Information 1yg5 HBA2 t-to-t(high) quaternary transitions in human hemoglobin: betaw37h oxy (2mm ihp, 20% peg) (10 test sets) 2.7Å AUTH J.S.KAVANAUGH,P.H.ROGERS,A.ARNONETITL CRYSTALLOGRAPHIC EVIDENCE FOR A NEW ENSEMBLE OFTITL 2 LIGAND-INDUCED ALLOSTERIC TRANSITIONS INTITL 3 HEMOGLOBIN: THE T-TO-T(HIGH) QUATERNARYTITL 4 TRANSITIONS.REF BIOCHEMISTRY V. 44 6101 2005REFN ISSN 0006-2960PMID 15835899DOI 10.1021/BI047813A Variant Set Distributions Pathogenic […]

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1YG5.C | HBA1

General Structure Information 1yg5 HBA1 t-to-t(high) quaternary transitions in human hemoglobin: betaw37h oxy (2mm ihp, 20% peg) (10 test sets) 2.7Å AUTH J.S.KAVANAUGH,P.H.ROGERS,A.ARNONETITL CRYSTALLOGRAPHIC EVIDENCE FOR A NEW ENSEMBLE OFTITL 2 LIGAND-INDUCED ALLOSTERIC TRANSITIONS INTITL 3 HEMOGLOBIN: THE T-TO-T(HIGH) QUATERNARYTITL 4 TRANSITIONS.REF BIOCHEMISTRY V. 44 6101 2005REFN ISSN 0006-2960PMID 15835899DOI 10.1021/BI047813A Variant Set Distributions Pathogenic […]

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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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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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1NST.A | NDST1

General Structure Information 1nst NDST1 the sulfotransferase domain of human haparin sulfate n- deacetylase/n-sulfotransferase 2.3Å AUTH Y.KAKUTA,T.SUEYOSHI,M.NEGISHI,L.C.PEDERSENTITL CRYSTAL STRUCTURE OF THE SULFOTRANSFERASE DOMAINTITL 2 OF HUMAN HEPARAN SULFATE N-DEACETYLASE/TITL 3 N-SULFOTRANSFERASE 1.REF J.BIOL.CHEM. V. 274 10673 1999REFN ISSN 0021-9258PMID 10196134DOI 10.1074/JBC.274.16.10673 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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1WSV.A | AMT

General Structure Information 1wsv AMT crystal structure of human t-protein of glycine cleavage system 2.6Å AUTH K.OKAMURA-IKEDA,H.HOSAKA,M.YOSHIMURA,E.YAMASHITA,AUTH 2 S.TOMA,A.NAKAGAWA,K.FUJIWARA,Y.MOTOKAWA,H.TANIGUCHITITL CRYSTAL STRUCTURE OF HUMAN T-PROTEIN OF GLYCINETITL 2 CLEAVAGE SYSTEM AT 2.0A RESOLUTION AND ITSTITL 3 IMPLICATION FOR UNDERSTANDING NON-KETOTICTITL 4 HYPERGLYCINEMIAREF J.MOL.BIOL. V. 351 1146 2005REFN ISSN 0022-2836PMID 16051266DOI 10.1016/J.JMB.2005.06.056 Variant Set Distributions Ripley’s K […]

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2H5G.B | ALDH18A1

General Structure Information 2h5g ALDH18A1 crystal structure of human pyrroline-5-carboxylate synthetase 2.25Å AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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