1MHD.B | SMAD3

General Structure Information 1mhd SMAD3 crystal structure of a smad mh1 domain bound to dna 2.8Å AUTH Y.SHI,Y.F.WANG,L.JAYARAMAN,H.YANG,J.MASSAGUE,AUTH 2 N.P.PAVLETICHTITL CRYSTAL STRUCTURE OF A SMAD MH1 DOMAIN BOUND TOTITL 2 DNA: INSIGHTS ON DNA BINDING IN TGF-BETA SIGNALING.REF CELL(CAMBRIDGE,MASS.) V. 94 585 1998REFN ISSN 0092-8674PMID 9741623DOI 10.1016/S0092-8674(00)81600-1 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1U7F.C | SMAD3

General Structure Information 1u7f SMAD3 crystal structure of the phosphorylated smad3/smad4 heterotrimeric complex 2.6Å AUTH B.M.CHACKO,B.Y.QIN,A.TIWARI,G.SHI,S.LAM,AUTH 2 L.J.HAYWARD,M.DE CAESTECKER,K.LINTITL STRUCTURAL BASIS OF HETEROMERIC SMAD PROTEINTITL 2 ASSEMBLY IN TGF-BETA SIGNALINGREF MOL.CELL V. 15 813 2004REFN ISSN 1097-2765PMID 15350224DOI 10.1016/J.MOLCEL.2004.07.016 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2I6A.D | ADK

General Structure Information 2i6a ADK human adenosine kinase in complex with 5-deoxy-5- iodotubercidin 2.2Å AUTH S.W.MUCHMORE,R.A.SMITH,A.O.STEWART,M.D.COWART,AUTH 2 A.GOMTSYAN,M.A.MATULENKO,H.YU,J.M.SEVERIN,AUTH 3 S.S.BHAGWAT,C.H.LEE,E.A.KOWALUK,M.F.JARVIS,AUTH 4 C.L.JAKOBTITL CRYSTAL STRUCTURES OF HUMAN ADENOSINE KINASETITL 2 INHIBITOR COMPLEXES REVEAL TWO DISTINCT BINDINGTITL 3 MODES.REF J.MED.CHEM. V. 49 6726 2006REFN ISSN 0022-2623PMID 17154503DOI 10.1021/JM060189A Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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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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1L8L.B | PSPH

General Structure Information 1l8l PSPH molecular basis for the local confomational rearrangement of human phosphoserine phosphatase 2.51Å AUTH H.Y.KIM,Y.S.HEO,J.H.KIM,M.H.PARK,J.MOON,E.KIM,AUTH 2 D.KWON,J.YOON,D.SHIN,E.J.JEONG,S.Y.PARK,T.G.LEE,AUTH 3 Y.H.JEON,S.RO,J.M.CHO,K.Y.HWANGTITL MOLECULAR BASIS FOR THE LOCAL CONFORMATIONALTITL 2 REARRANGEMENT OF HUMAN PHOSPHOSERINE PHOSPHATASE.REF J.BIOL.CHEM. V. 277 46651 2002REFN ISSN 0021-9258PMID 12213811DOI 10.1074/JBC.M204866200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2VOM.B | TPI1

General Structure Information 2vom TPI1 structural basis of human triosephosphate isomerase deficiency. mutation e104d and correlation to solvent perturbation. 1.85Å AUTH C.RODRIGUEZ-ALMAZAN,R.ARREOLA-ALEMON,AUTH 2 D.RODRIGUEZ-LARREA,B.AGUIRRE-LOPEZ,AUTH 3 M.T.DE GOMEZ-PUYOU,R.PEREZ-MONTFORT,M.COSTAS,AUTH 4 A.GOMEZ-PUYOU,A.TORRES-LARIOSTITL STRUCTURAL BASIS OF HUMAN TRIOSEPHOSPHATETITL 2 ISOMERASE DEFICIENCY: MUTATION E104D IS RELATED TOTITL 3 ALTERATIONS OF A CONSERVED WATER NETWORK AT THETITL 4 DIMER INTERFACE.REF J.BIOL.CHEM. […]

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1N3L.A | YARS

General Structure Information 1n3l YARS crystal structure of a human aminoacyl-trna synthetase cytokine 1.18Å AUTH X.-L.YANG,R.J.SKENE,D.E.MCREE,P.SCHIMMELTITL CRYSTAL STRUCTURE OF A HUMAN AMINOACYL-TRNA SYNTHETASETITL 2 CYTOKINEREF PROC.NATL.ACAD.SCI.USA V. 99 15369 2002REFN ISSN 0027-8424PMID 12427973DOI 10.1073/PNAS.242611799 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3QLN.A | ATRX

General Structure Information 3qln ATRX crystal structure of atrx add domain in free state 1.9Å AUTH S.IWASE,B.XIANG,S.GHOSH,T.REN,P.W.LEWIS,J.C.COCHRANE,AUTH 2 C.D.ALLIS,D.J.PICKETTS,D.J.PATEL,H.LI,Y.SHITITL ATRX ADD DOMAIN LINKS AN ATYPICAL HISTONE METHYLATIONTITL 2 RECOGNITION MECHANISM TO HUMAN MENTAL-RETARDATION SYNDROMEREF NAT.STRUCT.MOL.BIOL. V. 18 769 2011REFN ISSN 1545-9993PMID 21666679DOI 10.1038/NSMB.2062 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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