Assessment of Structural Intolerance and Durability
General Structure Information 3ikm POLG crystal structure of human mitochondrial dna polymerase holoenzyme 3.24Å AUTH Y.S.LEE,W.D.KENNEDY,Y.W.YINTITL STRUCTURAL INSIGHT INTO PROCESSIVE HUMANTITL 2 MITOCHONDRIAL DNA SYNTHESIS AND DISEASE-RELATEDTITL 3 POLYMERASE MUTATIONS.REF CELL(CAMBRIDGE,MASS.) V. 139 312 2009REFN ISSN 0092-8674PMID 19837034DOI 10.1016/J.CELL.2009.07.050 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1oip TTPA the molecular basis of vitamin e retention: structure of human alpha-tocopherol transfer protein 1.95Å AUTH R.MEIER,T.TOMIZAKI,C.SCHULZE-BRIESE,U.BAUMANN,AUTH 2 A.STOCKERTITL THE MOLECULAR BASIS OF VITAMIN E RETENTION:TITL 2 STRUCTURE OF HUMAN ALPHA-TOCOPHEROL TRANSFERTITL 3 PROTEINREF J.MOL.BIOL. V. 331 725 2003REFN ISSN 0022-2836PMID 12899840DOI 10.1016/S0022-2836(03)00724-1 Variant Set Distributions Ripley’s K Analysis Plots Variant […]
General Structure Information 2kr6 PSEN1 solution structure of presenilin-1 ctf subunit -1.0Å AUTH V.DOETSCHTITL SOLUTION STRUCTURE OF PRESENILIN-1 CTF SUBUNITREF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3lwk CRYBA4 crystal structure of human beta-crystallin a4 (cryba4) 1.7Å AUTH A.CHAIKUAD,N.SHAFQAT,T.KROJER,W.W.YUE,R.COCKING,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,A.C.W.PIKE,F.VON DELFT,C.H.ARROWSMITH,J.WEIGELT,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN BETA-CRYSTALLIN A4 (CRYBA4)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3gro PPT1 human palmitoyl-protein thioesterase 1 2.53Å AUTH E.DOBROVETSKY,A.SEITOVA,Y.TONG,W.TEMPEL,A.DONG,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,AUTH 3 A.BOCHKAREV,D.COSSAR,H.PARKTITL HUMAN PALMITOYL-PROTEIN THIOESTERASE 1REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2w8r ALDH5A1 the crystal structure of human ssadh in complex with nad+ 2.4Å AUTH Y.-G.KIM,S.LEE,O.-S.KWON,S.-Y.PARK,S.-J.LEE,AUTH 2 B.-J.PARK,K.-J.KIMTITL REDOX-SWITCH MODULATION OF HUMAN SSADH BY DYNAMICTITL 2 CATALYTIC LOOP.REF EMBO J. V. 28 959 2009REFN ISSN 0261-4189PMID 19300440DOI 10.1038/EMBOJ.2009.40 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 3fby COMP the crystal structure of the signature domain of cartilage oligomeric matrix protein. 3.15Å AUTH K.TAN,M.DUQUETTE,A.JOACHIMIAK,J.LAWLERTITL THE CRYSTAL STRUCTURE OF THE SIGNATURE DOMAIN OF CARTILAGETITL 2 OLIGOMERIC MATRIX PROTEIN: IMPLICATIONS FOR COLLAGEN,TITL 3 GLYCOSAMINOGLYCAN AND INTEGRIN BINDING.REF FASEB J. V. 23 2490 2009REFN ISSN 0892-6638PMID 19276170DOI 10.1096/FJ.08-128090 Variant Set Distributions Ripley’s […]
General Structure Information 2ja3 CLCN5 cytoplasmic domain of the human chloride transporter clc-5 in complex with adp 3.05Å AUTH S.MEYER,S.SAVARESI,I.C.FORSTER,R.DUTZLERTITL NUCLEOTIDE RECOGNITION BY THE CYTOPLASMIC DOMAINTITL 2 OF THE HUMAN CHLORIDE TRANSPORTER CLC-5REF NAT.STRUCT.MOL.BIOL. V. 14 60 2006REFN ISSN 1545-9993PMID 17195847DOI 10.1038/NSMB1188 Variant Set Distributions Mapped Variants
General Structure Information 3ii6 LIG4 structure of human xrcc4 in complex with the tandem brct domains of dna ligaseiv. 2.4Å AUTH P.Y.WU,P.FRIT,S.MEESALA,S.DAUVILLIER,M.MODESTI,AUTH 2 S.N.ANDRES,Y.HUANG,J.SEKIGUCHI,P.CALSOU,B.SALLES,AUTH 3 M.S.JUNOPTITL STRUCTURAL AND FUNCTIONAL INTERACTION BETWEEN THETITL 2 HUMAN DNA REPAIR PROTEINS DNA LIGASE IV AND XRCC4REF MOL.CELL.BIOL. V. 11 3163 2009REFN ISSN 0270-7306PMID 19332554 Variant Set Distributions Ripley’s K […]
General Structure Information 2rd0 PIK3CA structure of a human p110alpha/p85alpha complex 3.05Å AUTH C.H.HUANG,D.MANDELKER,O.SCHMIDT-KITTLER,Y.SAMUELS,AUTH 2 V.E.VELCULESCU,K.W.KINZLER,B.VOGELSTEIN,S.B.GABELLI,AUTH 3 L.M.AMZELTITL THE STRUCTURE OF A HUMAN P110ALPHA/P85ALPHA COMPLEXTITL 2 ELUCIDATES THE EFFECTS OF ONCOGENIC PI3KALPHA MUTATIONS.REF SCIENCE V. 318 1744 2007REFN ISSN 0036-8075PMID 18079394DOI 10.1126/SCIENCE.1150799 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants