2L9N.A | SBDS

General Structure Information 2l9n SBDS structure of the human shwachman-bodian-diamond syndrome (sbds) protein -1.0Å AUTH A.J.FINCH,C.HILCENKO,N.BASSE,L.F.DRYNAN,B.GOYENECHEA,AUTH 2 T.F.MENNE,A.GONZALEZ FERNANDEZ,P.SIMPSON,C.S.DSANTOS,AUTH 3 M.J.ARENDS,J.DONADIEU,C.BELLANNE-CHANTELOT,M.COSTANZO,AUTH 4 C.BOONE,A.N.MCKENZIE,S.M.FREUND,A.J.WARRENTITL UNCOUPLING OF GTP HYDROLYSIS FROM EIF6 RELEASE ON THETITL 2 RIBOSOME CAUSES SHWACHMAN-DIAMOND SYNDROME.REF GENES DEV. V. 25 917 2011REFN ISSN 0890-9369PMID 21536732DOI 10.1101/GAD.623011 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

See Details
1Y2O.A | BAIAP2

General Structure Information 1y2o BAIAP2 structure of n-terminal domain irsp53/baiap2 2.2Å AUTH T.H.MILLARD,G.BOMPARD,M.-Y.HEUNG,T.R.DAFFORN,AUTH 2 D.J.SCOTT,L.M.MACHESKY,K.FUTTERERTITL STRUCTURAL BASIS OF FILOPODIA FORMATION INDUCED BYTITL 2 THE IRSP53/MIM HOMOLOGY DOMAIN OF HUMAN IRSP53REF EMBO J. V. 24 240 2005REFN ISSN 0261-4189PMID 15635447DOI 10.1038/SJ.EMBOJ.7600535 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details
2Z0D.A | ATG4B

General Structure Information 2z0d ATG4B the crystal structure of human atg4b- lc3(1-120) complex 1.9Å AUTH K.SATOO,N.N.NODA,H.KUMETA,Y.FUJIOKA,N.MIZUSHIMA,AUTH 2 Y.OHSUMI,F.INAGAKITITL THE STRUCTURE OF ATG4B-LC3 COMPLEX REVEALS THETITL 2 MECHANISM OF LC3 PROCESSING AND DELIPIDATION DURINGTITL 3 AUTOPHAGY.REF EMBO J. V. 28 1341 2009REFN ISSN 0261-4189PMID 19322194DOI 10.1038/EMBOJ.2009.80 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

See Details
3OTF.A | HCN4

General Structure Information 3otf HCN4 structural basis for the camp-dependent gating in human hcn4 channel 2.4Å AUTH X.XU,Z.V.VYSOTSKAYA,Q.LIU,L.ZHOUTITL STRUCTURAL BASIS FOR THE CAMP-DEPENDENT GATING IN THE HUMANTITL 2 HCN4 CHANNEL.REF J.BIOL.CHEM. V. 285 37082 2010REFN ISSN 0021-9258PMID 20829353DOI 10.1074/JBC.M110.152033 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details
3LLR.A | DNMT3A

General Structure Information 3llr DNMT3A crystal structure of the pwwp domain of human dna (cytosine-5-)- methyltransferase 3 alpha 2.3Å AUTH H.WU,H.ZENG,R.LAM,W.TEMPEL,M.F.AMAYA,C.XU,L.DOMBROVSKI,AUTH 2 W.QIU,Y.WANG,J.MINTITL STRUCTURAL AND HISTONE BINDING ABILITY CHARACTERIZATIONS OFTITL 2 HUMAN PWWP DOMAINS.REF PLOS ONE V. 6 18919 2011REFN ESSN 1932-6203PMID 21720545DOI 10.1371/JOURNAL.PONE.0018919 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

See Details
2YGQ.A | WIF1

General Structure Information 2ygq WIF1 wif domain-epidermal growth factor (egf)-like domains 1-3 of human wnt inhibitory factor 1 in complex with 1,2-dipalmitoylphosphatidylcholine 3.95Å AUTH T.MALINAUSKAS,A.R.ARICESCU,W.LU,C.SIEBOLD,E.Y.JONESTITL MODULAR MECHANISM OF WNT SIGNALING INHIBITION BY WNTTITL 2 INHIBITORY FACTOR 1REF NAT.STRUCT.MOL.BIOL. V. 18 886 2011REFN ISSN 1545-9993PMID 21743455DOI 10.1038/NSMB.2081 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

See Details
2Q8K.A | PA2G4

General Structure Information 2q8k PA2G4 the crystal structure of ebp1 1.6Å AUTH E.KOWALINSKI,G.BANGE,B.BRADATSCH,E.HURT,K.WILD,I.SINNINGTITL THE CRYSTAL STRUCTURE OF EBP1 REVEALS A METHIONINETITL 2 AMINOPEPTIDASE FOLD AS BINDING PLATFORM FOR MULTIPLETITL 3 INTERACTIONS.REF FEBS LETT. V. 581 4450 2007REFN ISSN 0014-5793PMID 17765895DOI 10.1016/J.FEBSLET.2007.08.024 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

See Details
3F3S.B | CRYL1

General Structure Information 3f3s CRYL1 the crystal structure of human lambda-crystallin, cryl1 2.0Å AUTH E.UGOCHUKWU,C.JOHANSSON,W.W.YUE,G.KOCHAN,E.PILKA,A.KRAMM,AUTH 2 A.C.W.PIKE,P.FILIPPAKOPOULOS,F.VON DELFT,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN LAMBDA-CRYSTALLIN, CRYL1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details
3FG6.B | SCIN

General Structure Information 3fg6 SCIN structure of the c-terminus of adseverin 3.0Å AUTH S.CHUMNARNSILPA,W.L.LEE,S.NAG,B.KANNAN,M.LARSSON,AUTH 2 L.D.BURTNICK,R.C.ROBINSONTITL THE CRYSTAL STRUCTURE OF THE C-TERMINUS OF ADSEVERIN REVEALSTITL 2 THE ACTIN-BINDING INTERFACE.REF PROC.NATL.ACAD.SCI.USA V. 106 13719 2009REFN ISSN 0027-8424PMID 19666531DOI 10.1073/PNAS.0812383106 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details
3IHR.A | UCHL5

General Structure Information 3ihr UCHL5 crystal structure of uch37 2.95Å AUTH S.E.BURGIE,C.A.BINGMAN,A.B.SONI,G.N.PHILLIPSTITL STRUCTURAL CHARACTERIZATION OF HUMAN UCH37.REF PROTEINS 2011REFN ESSN 1097-0134PMID 21953935DOI 10.1002/PROT.23147 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details