2LP1.A | APP

General Structure Information 2lp1 APP the solution nmr structure of the transmembrane c-terminal domain of the amyloid precursor protein (c99) -1.0Å AUTH P.J.BARRETT,Y.SONG,W.D.VAN HORN,E.J.HUSTEDT,J.M.SCHAFER,AUTH 2 A.HADZISELIMOVIC,A.J.BEEL,C.R.SANDERSTITL THE AMYLOID PRECURSOR PROTEIN HAS A FLEXIBLE TRANSMEMBRANETITL 2 DOMAIN AND BINDS CHOLESTEROL.REF SCIENCE V. 336 1168 2012REFN ISSN 0036-8075PMID 22654059DOI 10.1126/SCIENCE.1219988 Variant Set Distributions Mapped Variants

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1HYN.S | SLC4A1

General Structure Information 1hyn SLC4A1 crystal structure of the cytoplasmic domain of human erythrocyte band-3 protein 2.6Å AUTH D.ZHANG,A.KIYATKIN,J.T.BOLIN,P.S.LOWTITL CRYSTALLOGRAPHIC STRUCTURE AND FUNCTIONALTITL 2 INTERPRETATION OF THE CYTOPLASMIC DOMAIN OFTITL 3 ERYTHROCYTE MEMBRANE BAND 3.REF BLOOD V. 96 2925 2000REFN ISSN 0006-4971PMID 11049968 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2LEJ.A | PRNP

General Structure Information 2lej PRNP human prion protein mutant huprp(90-231, m129, v210i) -1.0Å AUTH I.BILJAN,G.ILC,G.GIACHIN,A.RASPADORI,I.ZHUKOV,J.PLAVEC,AUTH 2 G.LEGNAMETITL TOWARD THE MOLECULAR BASIS OF INHERITED PRION DISEASES: NMRTITL 2 STRUCTURE OF THE HUMAN PRION PROTEIN WITH V210I MUTATION.REF J.MOL.BIOL. V. 412 660 2011REFN ISSN 0022-2836PMID 21839748DOI 10.1016/J.JMB.2011.07.067 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3N7P.D | RAMP1

General Structure Information 3n7p RAMP1 crystal structure of the ectodomain complex of the cgrp receptor, a class-b gpcr, reveals the site of drug antagonism 2.8Å AUTH E.TER HAAR,C.M.KOTH,N.ABDUL-MANAN,L.SWENSON,J.T.COLL,AUTH 2 J.A.LIPPKE,C.A.LEPRE,M.GARCIA-GUZMAN,J.M.MOORETITL CRYSTAL STRUCTURE OF THE ECTODOMAIN COMPLEX OF THE CGRPTITL 2 RECEPTOR, A CLASS-B GPCR, REVEALS THE SITE OF DRUGTITL 3 ANTAGONISM.REF STRUCTURE V. 18 1083 […]

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4IHB.F | DYSF

General Structure Information 4ihb DYSF x-ray structure of the canonical c2a domain from human dysferlin 2.04Å AUTH K.FUSON,A.RICE,R.MAHLING,A.SNOW,K.NAYAK,P.SHANBHOGUE,AUTH 2 A.G.MEYER,G.M.REDPATH,A.HINDERLITER,S.T.COOPER,R.B.SUTTONTITL ALTERNATE SPLICING OF DYSFERLIN C2A CONFERS CA(2+)-DEPENDENTTITL 2 AND CA(2+)-INDEPENDENT BINDING FOR MEMBRANE REPAIR.REF STRUCTURE V. 22 104 2014REFN ISSN 0969-2126PMID 24239457DOI 10.1016/J.STR.2013.10.001 Variant Set Distributions Mapped Variants

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3IKK.A | VAPB

General Structure Information 3ikk VAPB crystal structure analysis of msp domain 2.5Å AUTH J.SHI,S.LUA,J.S.TONG,J.SONGTITL ELIMINATION OF THE NATIVE STRUCTURE AND SOLUBILITY OF THETITL 2 HVAPB MSP DOMAIN BY THE PRO56SER MUTATION THAT CAUSESTITL 3 AMYOTROPHIC LATERAL SCLEROSIS.REF BIOCHEMISTRY V. 49 3887 2010REFN ISSN 0006-2960PMID 20377183DOI 10.1021/BI902057A Variant Set Distributions Mapped Variants

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1ZZA.A | SNN

General Structure Information 1zza SNN solution nmr structure of the membrane protein stannin -1.0Å AUTH B.A.BUCK-KOEHNTOP,A.MASCIONI,J.J.BUFFY,G.VEGLIATITL STRUCTURE, DYNAMICS, AND MEMBRANE TOPOLOGY OFTITL 2 STANNIN: A MEDIATOR OF NEURONAL CELL APOPTOSISTITL 3 INDUCED BY TRIMETHYLTIN CHLORIDE.REF J.MOL.BIOL. V. 354 652 2005REFN ISSN 0022-2836PMID 16246365DOI 10.1016/J.JMB.2005.09.038 Variant Set Distributions Mapped Variants

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4CAI.C | DYSF

General Structure Information 4cai DYSF structure of inner dysf domain of human dysferlin 2.2Å AUTH A.SULA,A.R.COLE,C.YEATS,C.ORENGO,N.H.KEEPTITL CRYSTAL STRUCTURES OF THE HUMAN DYSFERLIN INNER DYSF DOMAINREF BMC STRUCT.BIOL. V. 14 3 2014REFN ISSN 1472-6807PMID 24438169DOI 10.1186/1472-6807-14-3 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4KNG.B | LGR5

General Structure Information 4kng LGR5 crystal structure of human lgr5-rspo1-rnf43 2.5Å AUTH P.H.CHEN,X.CHEN,Z.LIN,D.FANG,X.HETITL THE STRUCTURAL BASIS OF R-SPONDIN RECOGNITION BY LGR5 ANDTITL 2 RNF43.REF GENES DEV. V. 27 1345 2013REFN ISSN 0890-9369PMID 23756651DOI 10.1101/GAD.219915.113 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4NPJ.A | ESYT2

General Structure Information 4npj ESYT2 extended-synaptotagmin 2, c2a- and c2b-domains 2.1Å AUTH J.XU,T.BACAJ,A.ZHOU,D.R.TOMCHICK,T.C.SUDHOF,J.RIZOTITL STRUCTURE AND CA(2+)-BINDING PROPERTIES OF THE TANDEM C2TITL 2 DOMAINS OF E-SYT2.REF STRUCTURE V. 22 269 2014REFN ISSN 0969-2126PMID 24373768DOI 10.1016/J.STR.2013.11.011 Variant Set Distributions Mapped Variants

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