2KSR.A | CHRNB2

General Structure Information 2ksr CHRNB2 nmr structures of tm domain of the n-acetylcholine receptor b2 subunit -1.0Å AUTH V.BONDARENKO,T.TILLMAN,Y.XU,P.TANGTITL NMR STRUCTURE OF THE TRANSMEMBRANE DOMAIN OF THETITL 2 N-ACETYLCHOLINE RECEPTOR BETA2 SUBUNIT.REF BIOCHIM.BIOPHYS.ACTA V.1798 1608 2010REFN ISSN 0006-3002PMID 20441771DOI 10.1016/J.BBAMEM.2010.04.014 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3HY5.A | RLBP1

General Structure Information 3hy5 RLBP1 crystal structure of cralbp 3.04Å AUTH X.HE,J.LOBSIGER,A.STOCKERTITL BOTHNIA DYSTROPHY IS CAUSED BY DOMINO-LIKETITL 2 REARRANGEMENTS IN CELLULAR RETINALDEHYDE-BINDINGTITL 3 PROTEIN MUTANT R234W.REF PROC.NATL.ACAD.SCI.USA V. 106 18545 2009REFN ISSN 0027-8424PMID 19846785DOI 10.1073/PNAS.0907454106 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2BME.C | RAB4A

General Structure Information 2bme RAB4A high resolution structure of gppnhp-bound human rab4a 1.57Å AUTH S.K.HUBER,A.J.SCHEIDIGTITL HIGH RESOLUTION CRYSTAL STRUCTURES OF HUMAN RAB4ATITL 2 IN ITS ACTIVE AND INACTIVE CONFORMATIONS.REF FEBS LETT. V. 579 2821 2005REFN ISSN 0014-5793PMID 15907487DOI 10.1016/J.FEBSLET.2005.04.020 Variant Set Distributions Mapped Variants

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3DZ8.A | RAB3B

General Structure Information 3dz8 RAB3B crystal structure of human rab3b gtpase bound with gdp 1.9Å AUTH Y.SHEN,Y.TONG,D.SUKUMAR,W.TEMPEL,P.LOPPNAU,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,M.WILKSTROM,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN RAB3B GTPASE BOUND WITH GDPREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2K21.A | KCNE1

General Structure Information 2k21 KCNE1 nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degree c -1.0Å AUTH C.KANG,C.TIAN,F.D.SONNICHSEN,J.A.SMITH,J.MEILER,AUTH 2 A.L.GEORGE,C.G.VANOYE,H.J.KIM,C.R.SANDERSTITL STRUCTURE OF KCNE1 AND IMPLICATIONS FOR HOW ITTITL 2 MODULATES THE KCNQ1 POTASSIUM CHANNEL.REF BIOCHEMISTRY V. 47 7999 2008REFN ISSN 0006-2960PMID 18611041DOI 10.1021/BI800875Q Variant Set Distributions Ripley’s K Analysis Plots […]

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2VDY.A | SERPINA6

General Structure Information 2vdy SERPINA6 crystal structure of the reactive loop cleaved corticosteroid binding globulin complexed with cortisol 2.3Å AUTH A.ZHOU,Z.WEI,P.L.STANLEY,R.J.READ,P.E.STEIN,R.W.CARRELLTITL THE S-TO-R TRANSITION OF CORTICOSTEROID-BINDING GLOBULINTITL 2 AND THE MECHANISM OF HORMONE RELEASE.REF J.MOL.BIOL. V. 380 244 2008REFN ISSN 0022-2836PMID 18513745DOI 10.1016/J.JMB.2008.05.012 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity […]

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2V53.A | SPARC

General Structure Information 2v53 SPARC crystal structure of a sparc-collagen complex 3.2Å AUTH E.HOHENESTER,T.SASAKI,C.GIUDICI,R.W.FARNDALE,AUTH 2 H.P.BACHINGERTITL STRUCTURAL BASIS OF SEQUENCE-SPECIFIC COLLAGENTITL 2 RECOGNITION BY SPARC.REF PROC.NATL.ACAD.SCI.USA V. 105 18273 2008REFN ISSN 0027-8424PMID 19011090DOI 10.1073/PNAS.0808452105 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2V5O.A | IGF2R

General Structure Information 2v5o IGF2R structure of human igf2r domains 11-14 2.91Å AUTH J.BROWN,C.DELAINE,O.J.ZACCHEO,C.SIEBOLD,R.J.GILBERT,AUTH 2 G.VAN BOXEL,A.DENLEY,J.C.WALLACE,A.B.HASSAN,B.E.FORBES,AUTH 3 E.Y.JONESTITL STRUCTURE AND FUNCTIONAL ANALYSIS OF THE IGF-II/IGF2RTITL 2 INTERACTIONREF EMBO J. V. 27 265 2008REFN ISSN 0261-4189PMID 18046459DOI 10.1038/SJ.EMBOJ.7601938 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2XN5.A | SERPINA7

General Structure Information 2xn5 SERPINA7 crystal structure of thyroxine-binding globulin complexed with furosemide 1.7Å AUTH X.QI,F.LOISEAU,W.L.CHAN,Y.YAN,Z.WEI,L.G.MILROY,AUTH 2 R.M.MYERS,S.V.LEY,R.J.READ,R.W.CARRELL,A.ZHOUTITL ALLOSTERIC MODULATION OF HORMONE RELEASE FROMTITL 2 THYROXINE AND CORTICOSTEROID BINDING-GLOBULINS.REF J.BIOL.CHEM. V. 286 16163 2011REFN ISSN 0021-9258PMID 21325280DOI 10.1074/JBC.M110.171082 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4A1H.C | PMP2

General Structure Information 4a1h PMP2 human myelin p2 protein, k45s mutant 2.2Å AUTH M.LEHTIMAKI,P.KURSULATITL STRUCTURE-FUNCTION RELATIONSHIPS IN THE MYELIN PERIPHERALTITL 2 MEMBRANE PROTEIN P2REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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