3HY8.A | PNPO

General Structure Information 3hy8 PNPO crystal structure of human pyridoxine 5-phosphate oxidase r229w mutant 2.5Å AUTH F.N.MUSAYEV,M.L.DI SALVO,M.A.SAAVEDRA,R.CONTESTABILE,AUTH 2 M.S.GHATGE,A.HAYNES,V.SCHIRCH,M.K.SAFOTITL MOLECULAR BASIS OF REDUCED PYRIDOXINE 5-PHOSPHATE OXIDASETITL 2 CATALYTIC ACTIVITY IN NEONATAL EPILEPTIC ENCEPHALOPATHYTITL 3 DISORDERREF J.BIOL.CHEM. V. 284 30949 2009REFN ISSN 0021-9258PMID 19759001DOI 10.1074/JBC.M109.038372 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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3FA2.B | BARD1

General Structure Information 3fa2 BARD1 crystal structure of the brca1 associated ring domain (bard1) tandem brct domains 2.2Å AUTH D.FOX 3RD,I.LE TRONG,R.E.STENKAMP,R.E.KLEVITTITL CRYSTAL STRUCTURE OF THE BRCA1 ASSOCIATED RING DOMAINTITL 2 (BARD1) TANDEM BRCT DOMAINSREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2J4E.E | ITPA

General Structure Information 2j4e ITPA the itp complex of human inosine triphosphatase 2.8Å AUTH P.STENMARK,P.KURSULA,S.FLODIN,S.GRASLUND,R.LANDRY,AUTH 2 P.NORDLUND,H.SCHULERTITL CRYSTAL STRUCTURE OF HUMAN INOSINE TRIPHOSPHATASE:TITL 2 SUBSTRATE BINDING AND IMPLICATION OF THE INOSINETITL 3 TRIPHOSPHATASE DEFICIENCY MUTATION P32T.REF J.BIOL.CHEM. V. 282 3182 2007REFN ISSN 0021-9258PMID 17138556DOI 10.1074/JBC.M609838200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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3C5R.A | BARD1

General Structure Information 3c5r BARD1 crystal structure of the bard1 ankyrin repeat domain and its functional consequences 2.0Å AUTH D.FOX,I.LE TRONG,P.RAJAGOPAL,P.S.BRZOVIC,R.E.STENKAMP,AUTH 2 R.E.KLEVITTITL CRYSTAL STRUCTURE OF THE BARD1 ANKYRIN REPEAT DOMAIN AND ITSTITL 2 FUNCTIONAL CONSEQUENCES.REF J.BIOL.CHEM. V. 283 21179 2008REFN ISSN 0021-9258PMID 18480049DOI 10.1074/JBC.M802333200 Variant Set Distributions Mapped Variants

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2KAV.A | SCN2A

General Structure Information 2kav SCN2A solution structure of the human voltage-gated sodium channel, brain isoform (nav1.2) -1.0Å AUTH V.Z.MILOUSHEV,J.A.LEVINE,M.A.ARBING,J.F.HUNT,G.S.PITT,AUTH 2 A.G.PALMERTITL SOLUTION STRUCTURE OF THE NAV1.2 C-TERMINAL EF-HAND DOMAIN.REF J.BIOL.CHEM. V. 284 6446 2009REFN ISSN 0021-9258PMID 19129176DOI 10.1074/JBC.M807401200 Variant Set Distributions Mapped Variants

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2KM6.A | NLRP7

General Structure Information 2km6 NLRP7 nmr structure of the nlrp7 pyrin domain -1.0Å AUTH A.S.PINHEIRO,M.PROELL,C.EIBL,R.PAGE,R.SCHWARZENBACHER,W.PETITITL THREE-DIMENSIONAL STRUCTURE OF THE NLRP7 PYRIN DOMAIN:TITL 2 INSIGHT INTO PYRIN-PYRIN-MEDIATED EFFECTOR DOMAIN SIGNALINGTITL 3 IN INNATE IMMUNITY.REF J.BIOL.CHEM. V. 285 27402 2010REFN ISSN 0021-9258PMID 20547486DOI 10.1074/JBC.M110.113191 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2KJE.A | CREBBP

General Structure Information 2kje CREBBP nmr structure of cbp taz2 and adenoviral e1a complex -1.0Å AUTH J.C.FERREON,M.A.MARTINEZ-YAMOUT,H.J.DYSON,AUTH 2 P.E.WRIGHTTITL STRUCTURAL BASIS FOR SUBVERSION OF CELLULAR CONTROLTITL 2 MECHANISMS BY THE ADENOVIRAL E1A ONCOPROTEIN.REF PROC.NATL.ACAD.SCI.USA V. 106 13260 2009REFN ISSN 0027-8424PMID 19651603DOI 10.1073/PNAS.0906770106 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3FF7.D | KLRG1

General Structure Information 3ff7 KLRG1 structure of nk cell receptor klrg1 bound to e-cadherin 1.8Å AUTH Y.LI,M.HOFMANN,Q.WANG,L.TENG,L.K.CHLEWICKI,AUTH 2 H.PIRCHER,R.A.MARIUZZATITL STRUCTURE OF NATURAL KILLER CELL RECEPTOR KLRG1TITL 2 BOUND TO E-CADHERIN REVEALS BASIS FORTITL 3 MHC-INDEPENDENT MISSING SELF RECOGNITION.REF IMMUNITY V. 31 35 2009REFN ISSN 1074-7613PMID 19604491DOI 10.1016/J.IMMUNI.2009.04.019 Variant Set Distributions Mapped Variants

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3EI4.B | DDB2

General Structure Information 3ei4 DDB2 structure of the hsddb1-hsddb2 complex 3.3Å AUTH A.SCRIMA,R.KONICKOVA,B.K.CZYZEWSKI,Y.KAWASAKI,P.D.JEFFREY,AUTH 2 R.GROISMAN,Y.NAKATANI,S.IWAI,N.P.PAVLETICH,N.H.THOMATITL STRUCTURAL BASIS OF UV DNA-DAMAGE RECOGNITION BY THETITL 2 DDB1-DDB2 COMPLEX.REF CELL(CAMBRIDGE,MASS.) V. 135 1213 2008REFN ISSN 0092-8674PMID 19109893DOI 10.1016/J.CELL.2008.10.045 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3LCY.C | TTN

General Structure Information 3lcy TTN titin ig tandem domains a164-a165 2.5Å AUTH Q.CHEN,M.WILMANNSTITL STRUCTURAL INVESTIGATION OF THE TITIN A-BAND TANDEM IGTITL 2 DOMAINS A164-A165REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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