3GD7.C | CFTR

General Structure Information 3gd7 CFTR crystal structure of human nbd2 complexed with n6- phenylethyl-atp (p-atp) 2.7Å AUTH S.ATWELL,S.ANTONYSAMY,W.B.GUGGINO,K.CONNERS,AUTH 2 S.EMTAGE,T.GHEYI,J.F.HUNT,H.A.LEWIS,F.LU,AUTH 3 J.M.SAUDER,P.C.WEBER,D.WETMORE,X.ZHAOTITL CRYSTAL STRUCTURE OF HUMAN NBD2 COMPLEXED WITHTITL 2 N6-PHENYLETHYL-ATP (P-ATP)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3G04.C | TSHR

General Structure Information 3g04 TSHR crystal structure of the tsh receptor in complex with a thyroid- stimulating autoantibody 2.55Å AUTH J.SANDERS,D.Y.CHIRGADZE,P.SANDERS,S.BAKER,A.SULLIVAN,AUTH 2 A.BHARDWAJA,J.BOLTON,M.REEVE,N.NAKATAKE,M.EVANS,T.RICHARDS,AUTH 3 M.POWELL,R.N.MIGUEL,T.L.BLUNDELL,J.FURMANIAK,B.R.SMITHTITL CRYSTAL STRUCTURE OF THE TSH RECEPTOR IN COMPLEX WITH ATITL 2 THYROID-STIMULATING AUTOANTIBODYREF THYROID V. 17 395 2007REFN ISSN 1050-7256PMID 17542669DOI 10.1089/THY.2007.0034 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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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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1G13.C | GM2A

General Structure Information 1g13 GM2A human gm2 activator structure 2.0Å AUTH C.S.WRIGHT,S.C.LI,F.RASTINEJADTITL CRYSTAL STRUCTURE OF HUMAN GM2-ACTIVATOR PROTEINTITL 2 WITH A NOVEL BETA-CUP TOPOLOGY.REF J.MOL.BIOL. V. 304 411 2000REFN ISSN 0022-2836PMID 11090283DOI 10.1006/JMBI.2000.4225 Variant Set Distributions Mapped Variants

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1FG9.C | IFNGR1

General Structure Information 1fg9 IFNGR1 3:1 complex of interferon-gamma receptor with interferon- gamma dimer 2.9Å AUTH D.J.THIEL,M.H.LE DU,R.L.WALTER,A.DARCY,C.CHENE,AUTH 2 M.FOUNTOULAKIS,G.GAROTTA,F.K.WINKLER,S.E.EALICKTITL OBSERVATION OF AN UNEXPECTED THIRD RECEPTORTITL 2 MOLECULE IN THE CRYSTAL STRUCTURE OF HUMANTITL 3 INTERFERON-GAMMA RECEPTOR COMPLEX.REF STRUCTURE FOLD.DES. V. 8 927 2000REFN ISSN 0969-2126PMID 10986460DOI 10.1016/S0969-2126(00)00184-2 Variant Set Distributions Pathogenic Proximity Analysis Mapped […]

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2Y7J.D | PHKG2

General Structure Information 2y7j PHKG2 structure of human phosphorylase kinase, gamma 2 2.5Å AUTH J.R.C.MUNIZ,A.SHRESTHA,P.SAVITSKY,J.WANG,P.RELLOS,O.FEDOROV,AUTH 2 N.BURGESS-BROWN,B.BRENNER,G.BERRIDGE,J.M.ELKINS,T.KROJER,AUTH 3 M.VOLLMAR,K.H.CHE,F.VON DELFT,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 4 J.WEIGELT,C.BOUNTRA,S.KNAPPTITL STRUCTURE OF HUMAN PHOSPHORYLASE KINASE, GAMMA 2REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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3TNU.B | KRT5

General Structure Information 3tnu KRT5 heterocomplex of coil 2b domains of human intermediate filament proteins, keratin 5 (krt5) and keratin 14 (krt14) 3.0Å AUTH C.H.LEE,M.S.KIM,B.M.CHUNG,D.J.LEAHY,P.A.COULOMBETITL STRUCTURAL BASIS FOR HETEROMERIC ASSEMBLY AND PERINUCLEARTITL 2 ORGANIZATION OF KERATIN FILAMENTS.REF NAT.STRUCT.MOL.BIOL. V. 19 707 2012REFN ISSN 1545-9993PMID 22705788DOI 10.1038/NSMB.2330 Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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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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1LM5.A | DSP

General Structure Information 1lm5 DSP structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure 1.8Å AUTH H.J.CHOI,S.PARK-SNYDER,L.T.PASCOE,K.J.GREEN,AUTH 2 W.I.WEISTITL STRUCTURES OF TWO INTERMEDIATE FILAMENT-BINDINGTITL 2 FRAGMENTS OF DESMOPLAKIN REVEAL A UNIQUE REPEATTITL 3 MOTIF STRUCTURE.REF NAT.STRUCT.BIOL. V. 9 612 2002REFN ISSN 1072-8368PMID 12101406 Variant Set Distributions Mapped Variants

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2VIG.H | ACADS

General Structure Information 2vig ACADS crystal structure of human short-chain acyl coa dehydrogenase 1.9Å AUTH A.C.W.PIKE,N.PANTIC,E.PARIZOTTO,O.GILEADI,AUTH 2 E.UGOCHUKWU,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-CHAIN ACYL COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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