2H3N.B | IGLL1

General Structure Information 2h3n IGLL1 crystal structure of a surrogate light chain (lambda5 and vpreb) homodimer 2.3Å AUTH A.J.BANKOVICH,S.RAUNSER,Z.S.JUO,T.WALZ,M.M.DAVIS,AUTH 2 K.C.GARCIATITL STRUCTURAL INSIGHT INTO PRE-B CELL RECEPTORTITL 2 FUNCTIONREF SCIENCE V. 316 291 2007REFN ISSN 0036-8075PMID 17431183DOI 10.1126/SCIENCE.1139412 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1BR9.A | TIMP2

General Structure Information 1br9 TIMP2 human tissue inhibitor of metalloproteinase-2 2.1Å AUTH A.TUUTTILA,E.MORGUNOVA,U.BERGMANN,Y.LINDQVIST,AUTH 2 K.MASKOS,C.FERNANDEZ-CATALAN,W.BODE,K.TRYGGVASON,AUTH 3 G.SCHNEIDERTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN TISSUETITL 2 INHIBITOR OF METALLOPROTEINASES-2 AT 2.1 ATITL 3 RESOLUTION.REF J.MOL.BIOL. V. 284 1133 1998REFN ISSN 0022-2836PMID 9837731DOI 10.1006/JMBI.1998.2223 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2C6F.A | ACE

General Structure Information 2c6f ACE structure of human somatic angiontensin-i converting enzyme n domain 3.01Å AUTH H.R.CORRADI,S.L.U.SCHWAGER,A.T.NCHINDA,AUTH 2 E.D.STURROCK,K.R.ACHARYATITL CRYSTAL STRUCTURE OF THE N DOMAIN OF HUMAN SOMATICTITL 2 ANGIOTENSIN I-CONVERTING ENZYME PROVIDES ATITL 3 STRUCTURAL BASIS FOR DOMAIN-SPECIFIC INHIBITORTITL 4 DESIGN.REF J.MOL.BIOL. V. 357 964 2006REFN ISSN 0022-2836PMID 16476442DOI 10.1016/J.JMB.2006.01.048 Variant Set Distributions Ripley’s […]

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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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1AH1.A | CTLA4

General Structure Information 1ah1 CTLA4 ctla-4, nmr, 20 structures -1.0Å AUTH W.J.METZLER,J.BAJORATH,W.FENDERSON,S.Y.SHAW,K.L.CONSTANTINE,AUTH 2 J.NAEMURA,G.LEYTZE,R.J.PEACH,T.B.LAVOIE,L.MUELLER,AUTH 3 P.S.LINSLEYTITL SOLUTION STRUCTURE OF HUMAN CTLA-4 AND DELINEATION OF ATITL 2 CD80/CD86 BINDING SITE CONSERVED IN CD28.REF NAT.STRUCT.BIOL. V. 4 527 1997REFN ISSN 1072-8368PMID 9228944DOI 10.1038/NSB0797-527 Variant Set Distributions Mapped Variants

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2FC9.A | NCL

General Structure Information 2fc9 NCL solution structure of the rrm_1 domain of ncl protein -1.0Å AUTH W.DANG,Y.MUTO,M.INOUE,T.KIGAWA,M.SHIROUZU,T.TERADA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE RRM_1 DOMAIN OF NCLTITL 2 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions 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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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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4JS2.A | ST6GAL1

General Structure Information 4js2 ST6GAL1 crystal structure of human beta-galactoside alpha-2,6- sialyltransferase 1 in complex with cmp 2.3Å AUTH B.KUHN,J.BENZ,M.GREIF,A.M.ENGEL,H.SOBEK,M.G.RUDOLPHTITL THE STRUCTURE OF HUMAN ALPHA-2,6-SIALYLTRANSFERASE REVEALSTITL 2 THE BINDING MODE OF COMPLEX GLYCANSREF ACTA CRYSTALLOGR.,SECT.D V. 69 1826 2013REFN ISSN 0907-4449DOI 10.1107/S0907444913015412 Variant Set Distributions Mapped Variants

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4E1O.E | HDC

General Structure Information 4e1o HDC human histidine decarboxylase complex with histidine methyl ester (hme) 1.8Å AUTH H.KOMORI,Y.NITTA,H.UENO,Y.HIGUCHITITL STRUCTURAL STUDY REVEALS THAT SER-354 DETERMINES SUBSTRATETITL 2 SPECIFICITY ON HUMAN HISTIDINE DECARBOXYLASEREF J.BIOL.CHEM. V. 287 29175 2012REFN ISSN 0021-9258PMID 22767596DOI 10.1074/JBC.M112.381897 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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