1I3N.B | GALE

General Structure Information 1i3n GALE molecular basis for severe epimerase-deficiency galactosemia: x-ray structure of the human v94m- substituted udp-galactose 4-epimerase 1.5Å AUTH J.B.THODEN,T.M.WOHLERS,J.L.FRIDOVICH-KEIL,AUTH 2 H.M.HOLDENTITL MOLECULAR BASIS FOR SEVERE EPIMERASE DEFICIENCYTITL 2 GALACTOSEMIA. X-RAY STRUCTURE OF THE HUMANTITL 3 V94M-SUBSTITUTED UDP-GALACTOSE 4-EPIMERASE.REF J.BIOL.CHEM. V. 276 20617 2001REFN ISSN 0021-9258PMID 11279193DOI 10.1074/JBC.M101304200 Variant Set Distributions Pathogenic […]

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3VWW.A | PDIA6

General Structure Information 3vww PDIA6 crystal structure of a0-domain of p5 from h. sapiens 1.93Å AUTH Y.SATO,R.KOJIMA,M.OKUMURA,M.HAGIWARA,S.MASUI,K.MAEGAWA,AUTH 2 M.SAIKI,T.HORIBE,M.SUZUKI,K.INABATITL SYNERGISTIC COOPERATION OF PDI FAMILY MEMBERS INTITL 2 PEROXIREDOXIN 4-DRIVEN OXIDATIVE PROTEIN FOLDINGREF SCI REP V. 3 2456 2013REFN ESSN 2045-2322PMID 23949117DOI 10.1038/SREP02456 Variant Set Distributions Mapped Variants

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1ZKC.A | PPIL2

General Structure Information 1zkc PPIL2 crystal structure of the cyclophiln_ring domain of human peptidylprolyl isomerase (cyclophilin)-like 2 isoform b 1.65Å AUTH J.R.WALKER,T.DAVIS,E.M.NEWMAN,F.MACKENZIE,AUTH 2 J.WEIGELT,M.SUNDSTROM,C.ARROWSMITH,A.EDWARDS,AUTH 3 A.BOCHKAREV,S.DHE-PAGANON,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF THE HUMAN PEPTIDYLPROLYLTITL 2 ISOMERASE-LIKE 2 ISOFORM BREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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1P5Q.C | FKBP4

General Structure Information 1p5q FKBP4 crystal structure of fkbp52 c-terminal domain 2.8Å AUTH B.WU,P.LI,Y.LIU,Z.LOU,Y.DING,C.SHU,S.YE,M.BARTLAM,B.SHEN,AUTH 2 Z.RAOTITL 3D STRUCTURE OF HUMAN FK506-BINDING PROTEIN 52: IMPLICATIONSTITL 2 FOR THE ASSEMBLY OF THE GLUCOCORTICOIDTITL 3 RECEPTOR/HSP90/IMMUNOPHILIN HETEROCOMPLEXREF PROC.NATL.ACAD.SCI.USA V. 101 8348 2004REFN ISSN 0027-8424PMID 15159550DOI 10.1073/PNAS.0305969101 Variant Set Distributions Mapped Variants

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2V4M.D | GFPT1

General Structure Information 2v4m GFPT1 the isomerase domain of human glutamine-fructose-6- phosphate transaminase 1 (gfpt1) in complex with fructose 6-phosphate 2.29Å AUTH M.MOCHE,L.LEHTIO,J.ANDERSSON,C.H.ARROWSMITH,AUTH 2 H.BERGLUND,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 S.SVENSSON,H.SCHUELER,A.G.THORSELL,L.TRESAUGUES,AUTH 7 J.UPPENBERG,S.VAN DEN BERG,M.WELIN,M.WISNIEWSKA,AUTH 8 J.WEIGELT,P.NORDLUND,M.WIKSTROMTITL THE ISOMERASE DOMAIN OF HUMAN GFPT1 IN COMPLEXTITL 2 WITH FRUCTOSE 6-PHOSPHATEREF TO BE PUBLISHEDREFN Variant […]

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2V4M.D | GFPT1

General Structure Information 2v4m GFPT1 the isomerase domain of human glutamine-fructose-6- phosphate transaminase 1 (gfpt1) in complex with fructose 6-phosphate 2.29Å AUTH M.MOCHE,L.LEHTIO,J.ANDERSSON,C.H.ARROWSMITH,AUTH 2 H.BERGLUND,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 S.SVENSSON,H.SCHUELER,A.G.THORSELL,L.TRESAUGUES,AUTH 7 J.UPPENBERG,S.VAN DEN BERG,M.WELIN,M.WISNIEWSKA,AUTH 8 J.WEIGELT,P.NORDLUND,M.WIKSTROMTITL THE ISOMERASE DOMAIN OF HUMAN GFPT1 IN COMPLEXTITL 2 WITH FRUCTOSE 6-PHOSPHATEREF TO BE PUBLISHEDREFN Variant […]

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2V4M.D | GFPT1

General Structure Information 2v4m GFPT1 the isomerase domain of human glutamine-fructose-6- phosphate transaminase 1 (gfpt1) in complex with fructose 6-phosphate 2.29Å AUTH M.MOCHE,L.LEHTIO,J.ANDERSSON,C.H.ARROWSMITH,AUTH 2 H.BERGLUND,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,AUTH 3 S.FLODIN,A.FLORES,S.GRASLUND,M.HAMMARSTROM,AUTH 4 A.JOHANSSON,I.JOHANSSON,T.KARLBERG,T.KOTENYOVA,AUTH 5 M.E.NILSSON,T.NYMAN,C.PERSSON,J.SAGEMARK,AUTH 6 S.SVENSSON,H.SCHUELER,A.G.THORSELL,L.TRESAUGUES,AUTH 7 J.UPPENBERG,S.VAN DEN BERG,M.WELIN,M.WISNIEWSKA,AUTH 8 J.WEIGELT,P.NORDLUND,M.WIKSTROMTITL THE ISOMERASE DOMAIN OF HUMAN GFPT1 IN COMPLEXTITL 2 WITH FRUCTOSE 6-PHOSPHATEREF TO BE PUBLISHEDREFN Variant […]

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3F8U.B | TAPBP

General Structure Information 3f8u TAPBP tapasin/erp57 heterodimer 2.6Å AUTH G.DONG,P.A.WEARSCH,D.R.PEAPER,P.CRESSWELL,K.M.REINISCHTITL INSIGHTS INTO MHC CLASS I PEPTIDE LOADING FROM THE STRUCTURETITL 2 OF THE TAPASIN-ERP57 THIOL OXIDOREDUCTASE HETERODIMER.REF IMMUNITY V. 30 21 2009REFN ISSN 1074-7613PMID 19119025DOI 10.1016/J.IMMUNI.2008.10.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1PBK.A | FKBP3

General Structure Information 1pbk FKBP3 homologous domain of human fkbp25 2.5Å AUTH J.LIANG,D.T.HUNG,S.L.SCHREIBER,J.CLARDYTITL STRUCTURE OF THE HUMAN 25 KDA FK506 BINDINGTITL 2 PROTEIN COMPLEXED WITH RAPAMYCIN.REF J.AM.CHEM.SOC. V. 118 1231 1996REFN ISSN 0002-7863 Variant Set Distributions Mapped Variants

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3F8U.B | TAPBP

General Structure Information 3f8u TAPBP tapasin/erp57 heterodimer 2.6Å AUTH G.DONG,P.A.WEARSCH,D.R.PEAPER,P.CRESSWELL,K.M.REINISCHTITL INSIGHTS INTO MHC CLASS I PEPTIDE LOADING FROM THE STRUCTURETITL 2 OF THE TAPASIN-ERP57 THIOL OXIDOREDUCTASE HETERODIMER.REF IMMUNITY V. 30 21 2009REFN ISSN 1074-7613PMID 19119025DOI 10.1016/J.IMMUNI.2008.10.018 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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