4ASC.A | KLHL40

General Structure Information 4asc KLHL40 crystal structure of the kelch domain of human kbtbd5 1.78Å AUTH P.CANNING,C.D.O.COOPER,T.KROJER,J.W.MURRAY,A.C.W.PIKE,AUTH 2 A.CHAIKUAD,T.KEATES,C.THANGARATNARAJAH,V.HOJZAN,B.D.MARSDEN,AUTH 3 O.GILEADI,S.KNAPP,F.VON DELFT,A.N.BULLOCKTITL STRUCTURAL BASIS FOR CUL3 ASSEMBLY WITH THE BTB-KELCHTITL 2 FAMILY OF E3 UBIQUITIN LIGASES.REF J.BIOL.CHEM. V. 288 7803 2013REFN ISSN 0021-9258PMID 23349464DOI 10.1074/JBC.M112.437996 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

See Details
1EKG.A | FXN

General Structure Information 1ekg FXN mature human frataxin 1.8Å AUTH S.DHE-PAGANON,R.SHIGETA,Y.I.CHI,M.RISTOW,AUTH 2 S.E.SHOELSONTITL CRYSTAL STRUCTURE OF HUMAN FRATAXIN.REF J.BIOL.CHEM. V. 275 30753 2000REFN ISSN 0021-9258PMID 10900192DOI 10.1074/JBC.C000407200 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

See Details
4MI0.A | EZH2

General Structure Information 4mi0 EZH2 human enhancer of zeste (drosophila) homolog 2(ezh2) 2.0Å AUTH H.WU,H.ZENG,A.DONG,F.LI,H.HE,G.SENISTERRA,A.SEITOVA,S.DUAN,AUTH 2 P.J.BROWN,M.VEDADI,C.H.ARROWSMITH,M.SCHAPIRATITL STRUCTURE OF THE CATALYTIC DOMAIN OF EZH2 REVEALSTITL 2 CONFORMATIONAL PLASTICITY IN COFACTOR AND SUBSTRATE BINDINGTITL 3 SITES AND EXPLAINS ONCOGENIC MUTATIONS.REF PLOS ONE V. 8 83737 2013REFN ESSN 1932-6203PMID 24367611DOI 10.1371/JOURNAL.PONE.0083737 Variant Set Distributions Ripley’s K Analysis […]

See Details
2YRB.A | RPGRIP1L

General Structure Information 2yrb RPGRIP1L solution structure of the first c2 domain from human kiaa1005 protein -1.0Å AUTH T.NAGASHIMA,F.HAYASHI,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FIRST C2 DOMAIN FROMTITL 2 HUMAN KIAA1005 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

See Details
3PUF.H | RNASEH2B

General Structure Information 3puf RNASEH2B crystal structure of human rnase h2 complex 3.1Å AUTH M.FIGIEL,H.CHON,S.M.CERRITELLI,M.CYBULSKA,R.J.CROUCH,AUTH 2 M.NOWOTNYTITL THE STRUCTURAL AND BIOCHEMICAL CHARACTERIZATION OF HUMANTITL 2 RNASE H2 COMPLEX REVEALS THE MOLECULAR BASIS FOR SUBSTRATETITL 3 RECOGNITION AND AICARDI-GOUTIERES SYNDROME DEFECTS.REF J.BIOL.CHEM. V. 286 10540 2011REFN ISSN 0021-9258PMID 21177858DOI 10.1074/JBC.M110.181974 Variant Set Distributions Pathogenic Proximity Analysis […]

See Details
3D6T.B | LRRK2

General Structure Information 3d6t LRRK2 structure of the roc domain from the parkinsons disease-associated leucine-rich repeat kinase 2 reveals a dimeric gtpase 2.43Å AUTH J.DENG,P.A.LEWIS,E.GREGGIO,E.SLUCH,A.BEILINA,M.R.COOKSONTITL STRUCTURE OF THE ROC DOMAIN FROM THE PARKINSONSTITL 2 DISEASE-ASSOCIATED LEUCINE-RICH REPEAT KINASE 2 REVEALS ATITL 3 DIMERIC GTPASEREF PROC.NATL.ACAD.SCI.USA V. 105 1499 2008REFN ISSN 0027-8424PMID 18230735DOI 10.1073/PNAS.0709098105 Variant Set […]

See Details
2HDH.B | HADH

General Structure Information 2hdh HADH biochemical characterization and structure determination of human heart short chain l-3-hydroxyacyl coa dehydrogenase provide insight into catalytic mechanism 2.2Å AUTH J.J.BARYCKI,L.K.OBRIEN,J.M.BRATT,R.ZHANG,R.SANISHVILI,AUTH 2 A.W.STRAUSS,L.J.BANASZAKTITL BIOCHEMICAL CHARACTERIZATION AND CRYSTAL STRUCTURETITL 2 DETERMINATION OF HUMAN HEART SHORT CHAIN L-3-HYDROXYACYL-COATITL 3 DEHYDROGENASE PROVIDE INSIGHTS INTO CATALYTIC MECHANISM.REF BIOCHEMISTRY V. 38 5786 1999REFN ISSN 0006-2960PMID […]

See Details
4AH6.D | DARS2

General Structure Information 4ah6 DARS2 human mitochondrial aspartyl-trna synthetase 3.7Å AUTH E.ENNIFAR,C.FLORENTZ,A.GAUDRY,B.LORBER,A.NEUENFELDT,AUTH 2 C.SAUTER,M.SISSLERTITL THERMODYNAMIC PROPERTIES DISTINGUISH HUMAN MITOCHONDRIALTITL 2 ASPARTYL-TRNA SYNTHETASE FROM BACTERIAL HOMOLOG WITH SAMETITL 3 3D ARCHITECTUREREF NUCLEIC ACIDS RES. V. 41 2698 2013REFN ISSN 0305-1048PMID 23275545DOI 10.1093/NAR/GKS1322 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

See Details
3VN4.A | ADAMTS13

General Structure Information 3vn4 ADAMTS13 crystal structure of the exosite-containing fragment of human adamts13 (p475s mutant) 2.8Å AUTH D.NAKAYAMA,M.AKIYAMA,S.TAKEDA,K.KOKAME,J.TAKAGI,T.MIYATATITL STRUCTURAL ANALYSIS AND BIOCHEMICAL STUDIES OF ADAMTS13TITL 2 P475S MUTANTREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details
4CCA.A | STXBP2

General Structure Information 4cca STXBP2 structure of human munc18-2 2.6Å AUTH Y.HACKMANN,S.C.GRAHAM,S.EHL,S.HOENING,K.LEHMBERG,M.ARICO,AUTH 2 D.J.OWEN,G.G.GRIFFITHSTITL SYNTAXIN BINDING MECHANISM AND DISEASE-CAUSING MUTATIONS INTITL 2 MUNC18-2REF PROC.NATL.ACAD.SCI.USA V. 110 E4482 2013REFN ISSN 0027-8424PMID 24194549DOI 10.1073/PNAS.1313474110 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

See Details