2VR2.A | DPYS

General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VR2.A | DPYS

General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VR2.A | DPYS

General Structure Information 2vr2 DPYS human dihydropyrimidinase 2.8Å AUTH M.WELIN,T.KARLBERG,J.ANDERSSON,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 R.D.BUSAM,R.COLLINS,L.G.DAHLGREN,A.M.EDWARDS,S.FLODIN,AUTH 3 A.FLORES,S.GRASLUND,M.HAMMARSTROM,M.D.HERMAN,I.JOHANSSON,AUTH 4 A.KALLAS,T.KOTENYOVA,L.LEHTIO,M.MOCHE,M.E.NILSSON,T.NYMAN,AUTH 5 C.PERSSON,J.SAGEMARK,L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,AUTH 6 S.VAN DEN BERG,J.WEIGELT,M.WIKSTROM,P.NORDLUNDTITL THE CRYSTAL STRUCTURE OF HUMAN DIHYDROPYRIMIDINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1M7R.B | MTMR2

General Structure Information 1m7r MTMR2 crystal structure of myotubularin-related protein-2 (mtmr2) complexed with phosphate 2.6Å AUTH M.J.BEGLEY,G.S.TAYLOR,S.-A.KIM,D.M.VEINE,J.E.DIXON,AUTH 2 J.A.STUCKEYTITL CRYSTAL STRUCTURE OF A PHOSPHOINOSITIDETITL 2 PHOSPHATASE, MTMR2: INSIGHTS INTO MYOTUBULARTITL 3 MYOPATHY AND CHARCOT-MARIE-TOOTH SYNDROMEREF MOL.CELL V. 12 1391 2003REFN ISSN 1097-2765PMID 14690594DOI 10.1016/S1097-2765(03)00486-6 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2C7S.A | PTPRK

General Structure Information 2c7s PTPRK crystal structure of human protein tyrosine phosphatase kappa at 1.95a resolution 1.95Å AUTH J.ESWARAN,J.E.DEBRECZENI,E.LONGMAN,A.BARR,S.KNAPPTITL THE CRYSTAL STRUCTURE OF HUMAN RECEPTOR PROTEIN TYROSINETITL 2 KAPPA PHOSPHATASE KAPPA DOMAIN 1.REF PROTEIN SCI. V. 15 1500 2006REFN ISSN 0961-8368PMID 16672235DOI 10.1110/PS.062128706 Variant Set Distributions Mapped Variants

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2PE4.A | HYAL1

General Structure Information 2pe4 HYAL1 structure of human hyaluronidase 1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis 2.0Å AUTH K.L.CHAO,L.MUTHUKUMAR,O.HERZBERGTITL STRUCTURE OF HUMAN HYALURONIDASE-1, A HYALURONAN HYDROLYZINGTITL 2 ENZYME INVOLVED IN TUMOR GROWTH AND ANGIOGENESISREF BIOCHEMISTRY V. 46 6911 2007REFN ISSN 0006-2960PMID 17503783DOI 10.1021/BI700382G Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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1Y3J.A | ATP7A

General Structure Information 1y3j ATP7A solution structure of the copper(i) form of the fifth domain of menkes protein -1.0Å AUTH L.BANCI,I.BERTINI,S.CIOFI-BAFFONI,C.T.CHASAPIS,AUTH 2 N.HADJILIADIS,A.ROSATOTITL AN NMR STUDY OF THE INTERACTION BETWEEN THE HUMANTITL 2 COPPER(I) CHAPERONE AND THE SECOND AND FIFTHTITL 3 METAL-BINDING DOMAINS OF THE MENKES PROTEINREF FEBS J. V. 272 865 2005REFN ISSN 1742-464XPMID […]

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1M3G.A | DUSP2

General Structure Information 1m3g DUSP2 solution structure of the catalytic domain of mapk phosphatase pac-1: insights into substrate-induced enzymatic activation -1.0Å AUTH A.FAROOQ,O.PLOTNIKOVA,G.CHATURVEDI,S.YAN,L.ZENG,AUTH 2 Q.ZHANG,M.-M.ZHOUTITL SOLUTION STRUCTURE OF THE MAPK PHOSPHATASE PAC-1TITL 2 CATALYTIC DOMAIN INSIGHTS INTO SUBSTRATE-INDUCEDTITL 3 ENZYMATIC ACTIVATION OF MKPREF STRUCTURE V. 11 155 2003REFN ISSN 0969-2126PMID 12575935DOI 10.1016/S0969-2126(02)00943-7 Variant Set Distributions […]

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2PL3.A | DDX10

General Structure Information 2pl3 DDX10 human dead-box rna helicase ddx10, dead domain in complex with adp 2.15Å AUTH P.SCHUTZ,T.KARLBERG,S.VAN DEN BERG,R.COLLINS,L.LEHTIO,AUTH 2 M.HOGBOM,L.HOLMBERG-SCHIAVONE,W.TEMPEL,H.W.PARK,AUTH 3 M.HAMMARSTROM,M.MOCHE,A.G.THORSELL,H.SCHULERTITL COMPARATIVE STRUCTURAL ANALYSIS OF HUMAN DEAD-BOX RNATITL 2 HELICASES.REF PLOS ONE V. 5 12791 2010REFN ESSN 1932-6203PMID 20941364DOI 10.1371/JOURNAL.PONE.0012791 Variant Set Distributions Mapped Variants

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2KIJ.A | ATP7A

General Structure Information 2kij ATP7A solution structure of the actuator domain of the copper- transporting atpase atp7a -1.0Å AUTH L.BANCI,I.BERTINI,F.CANTINI,M.MIGLIARDI,G.NATILE,AUTH 2 F.NUSHI,A.ROSATOTITL SOLUTION STRUCTURES OF THE ACTUATOR DOMAIN OF ATP7ATITL 2 AND ATP7B, THE MENKES AND WILSON DISEASE PROTEINSREF BIOCHEMISTRY V. 48 7849 2009REFN ISSN 0006-2960PMID 19645496DOI 10.1021/BI901003K Variant Set Distributions Mapped Variants

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