Assessment of Structural Intolerance and Durability
General Structure Information 3k77 XRCC1 x-ray crystal structure of xrcc1 2.6Å AUTH M.J.CUNEO,R.E.LONDONTITL OXIDATION STATE OF THE XRCC1 N-TERMINAL DOMAIN REGULATESTITL 2 DNA POLYMERASE BETA BINDING AFFINITY.REF PROC.NATL.ACAD.SCI.USA V. 107 6805 2010REFN ISSN 0027-8424PMID 20351257DOI 10.1073/PNAS.0914077107 Variant Set Distributions Mapped Variants
General Structure Information 2acu AKR1B1 tyrosine-48 is the proton donor and histidine-110 directs substrate stereochemical selectivity in the reduction reaction of human aldose reductase: enzyme kinetics and the crystal structure of the y48h mutant enzyme 1.76Å AUTH K.M.BOHREN,C.E.GRIMSHAW,C.J.LAI,D.H.HARRISON,AUTH 2 D.RINGE,G.A.PETSKO,K.H.GABBAYTITL TYROSINE-48 IS THE PROTON DONOR AND HISTIDINE-110TITL 2 DIRECTS SUBSTRATE STEREOCHEMICAL SELECTIVITY INTITL 3 THE […]
General Structure Information 3ebm TPT1 crystal structure of human translationally controlled tumour associated protein (htctp) mutant e12v 2.6Å AUTH X.DONG,B.YANG,Y.LI,C.ZHONG,J.DINGTITL MOLECULAR BASIS OF THE ACCELERATION OF THE GDP-GTPTITL 2 EXCHANGE OF HUMAN RAS HOMOLOG ENRICHED IN BRAIN BYTITL 3 HUMAN TRANSLATIONALLY CONTROLLED TUMOR PROTEIN.REF J.BIOL.CHEM. V. 284 23754 2009REFN ISSN 0021-9258PMID 19570981DOI 10.1074/JBC.M109.012823 Variant Set […]
General Structure Information 4ern ERCC3 crystal structure of the c-terminal domain of human xpb/ercc-3 excision repair protein at 1.80 a 1.8Å AUTH E.HILARIO,Y.LI,Y.NOBUMORI,X.LIU,L.FANTITL STRUCTURE OF THE C-TERMINAL HALF OF HUMAN XPB HELICASE ANDTITL 2 THE IMPACT OF THE DISEASE-CAUSING MUTATION XP11BE.REF ACTA CRYSTALLOGR.,SECT.D V. 69 237 2013REFN ISSN 0907-4449PMID 23385459DOI 10.1107/S0907444912045040 Variant Set Distributions Ripley’s […]
General Structure Information 1yfk PGAM1 crystal structure of human b type phosphoglycerate mutase 2.7Å AUTH Y.WANG,Z.WEI,L.LIU,Z.CHENG,Y.LIN,F.JI,W.GONGTITL CRYSTAL STRUCTURE OF HUMAN B-TYPE PHOSPHOGLYCERATETITL 2 MUTASE BOUND WITH CITRATE.REF BIOCHEM.BIOPHYS.RES.COMMUN. V. 331 1207 2005REFN ISSN 0006-291XPMID 15883004DOI 10.1016/J.BBRC.2005.03.243 Variant Set Distributions Mapped Variants
General Structure Information 3thc GLB1 crystal structure of human beta-galactosidase in complex with galactose 1.8Å AUTH U.OHTO,K.USUI,T.OCHI,K.YUKI,Y.SATOW,T.SHIMIZUTITL CRYSTAL STRUCTURE OF HUMAN BETA-GALACTOSIDASE: STRUCTURALTITL 2 BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESREF J.BIOL.CHEM. V. 287 1801 2012REFN ISSN 0021-9258PMID 22128166DOI 10.1074/JBC.M111.293795 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]
General Structure Information 2vo1 CTPS1 crystal structure of the synthetase domain of human ctp synthetase 2.8Å AUTH P.KURSULA,S.FLODIN,M.EHN,M.HAMMARSTROM,H.SCHULER,P.NORDLUND,AUTH 2 P.STENMARKTITL STRUCTURE OF THE SYNTHETASE DOMAIN OF HUMAN CTP SYNTHETASE,TITL 2 A TARGET FOR ANTICANCER THERAPY.REF ACTA CRYSTALLOGR.,SECT.F V. 62 613 2006REFN ISSN 1744-3091PMID 16820675DOI 10.1107/S1744309106018136 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]
General Structure Information 3qfc POR crystal structure of human nadph-cytochrome p450 (v492e mutant) 1.8Å AUTH C.XIA,S.P.PANDA,C.C.MAROHNIC,P.MARTASEK,B.S.MASTERS,J.J.KIMTITL STRUCTURAL BASIS FOR HUMAN NADPH-CYTOCHROME P450TITL 2 OXIDOREDUCTASE DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 108 13486 2011REFN ISSN 0027-8424PMID 21808038DOI 10.1073/PNAS.1106632108 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1j1d TNNI3 crystal structure of the 46kda domain of human cardiac troponin in the ca2+ saturated form 2.61Å AUTH S.TAKEDA,A.YAMASHITA,K.MAEDA,Y.MAEDATITL STRUCTURE OF THE CORE DOMAIN OF HUMAN CARDIACTITL 2 TROPONIN IN THE CA2+-SATURATED FORMREF NATURE V. 424 35 2003REFN ISSN 0028-0836PMID 12840750DOI 10.1038/NATURE01780 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants
General Structure Information 1zmm DEFA4 crystal structure of human alpha-defensin-4 1.6Å AUTH A.SZYK,Z.WU,K.TUCKER,D.YANG,W.LU,J.LUBKOWSKITITL CRYSTAL STRUCTURES OF HUMAN {ALPHA}-DEFENSINS HNP4, HD5, ANDTITL 2 HD6.REF PROTEIN SCI. V. 15 2749 2006REFN ISSN 0961-8368PMID 17088326DOI 10.1110/PS.062336606 Variant Set Distributions Mapped Variants