2WFT.A | HHIP

General Structure Information 2wft HHIP crystal structure of the human hip ectodomain 2.8Å AUTH B.BISHOP,A.R.ARICESCU,K.HARLOS,C.A.OCALLAGHAN,AUTH 2 E.Y.JONES,C.SIEBOLDTITL STRUCTURAL INSIGHTS INTO HEDGEHOG LIGANDTITL 2 SEQUESTRATION BY THE HUMAN HEDGEHOG-INTERACTINGTITL 3 PROTEIN HIPREF NAT.STRUCT.MOL.BIOL. V. 16 698 2009REFN ISSN 1545-9993PMID 19561611DOI 10.1038/NSMB.1607 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3F6K.A | SORT1

General Structure Information 3f6k SORT1 crystal structure of the vps10p domain of human sortilin/nts3 in complex with neurotensin 2.0Å AUTH E.M.QUISTGAARD,P.MADSEN,M.K.GROFTEHAUGE,P.NISSEN,AUTH 2 C.M.PETERSEN,S.S.THIRUPTITL LIGANDS BIND TO SORTILIN IN THE TUNNEL OF A TEN-BLADEDTITL 2 BETA-PROPELLER DOMAIN.REF NAT.STRUCT.MOL.BIOL. V. 16 96 2009REFN ISSN 1545-9993PMID 19122660DOI 10.1038/NSMB.1543 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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2KV3.A | REG4

General Structure Information 2kv3 REG4 human regenerating gene type iv (reg iv) protein, p91s mutant -1.0Å AUTH M.HO,Y.LOU,S.WEI,S.LUO,W.LIN,P.LYU,C.CHENTITL HUMAN REGIV PROTEIN ADOPTS A TYPICAL C-TYPE LECTIN FOLD BUTTITL 2 BINDS MANNAN WITH TWO CALCIUM-INDEPENDENT SITESREF J.MOL.BIOL. 2010REFN ESSN 1089-8638DOI 10.1016/J.JMB.2010.07.061 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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1NCU.A | TTN

General Structure Information 1ncu TTN titin module m5, n-terminally extended, nmr -1.0Å AUTH M.PFUHL,S.IMPROTA,A.S.POLITOUS,A.PASTORETITL WHEN A MODULE IS ALSO A DOMAIN: THE ROLE OF THE NTITL 2 TERMINUS IN THE STABILITY AND THE DYNAMICS OFTITL 3 IMMUNOGLOBULIN DOMAINS FROM TITIN.REF J.MOL.BIOL. V. 265 242 1997REFN ISSN 0022-2836PMID 9020985DOI 10.1006/JMBI.1996.0725 Variant Set Distributions Ripley’s K Analysis […]

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3DLJ.B | CNDP1

General Structure Information 3dlj CNDP1 crystal structure of human carnosine dipeptidase 1 2.26Å AUTH E.DOBROVETSKY,A.DONG,A.SEITOVA,H.HE,W.TEMPEL,I.KOZIERADZKI,AUTH 2 C.H.ARROWSMITH,J.WEIGELT,C.BOUNTRA,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 D.COSSARTITL CRYSTAL STRUCTURE OF HUMAN CARNOSINE DIPEPTIDASE 1.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2FUE.A | PMM1

General Structure Information 2fue PMM1 human alpha-phosphomannomutase 1 with d-mannose 1-phosphate and mg2+ cofactor bound 1.75Å AUTH N.R.SILVAGGI,C.ZHANG,Z.LU,J.DAI,D.DUNAWAY-MARIANO,K.N.ALLENTITL THE X-RAY CRYSTAL STRUCTURES OF HUMANTITL 2 ALPHA-PHOSPHOMANNOMUTASE 1 REVEAL THE STRUCTURAL BASIS OFTITL 3 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A.REF J.BIOL.CHEM. V. 281 14918 2006REFN ISSN 0021-9258PMID 16540464DOI 10.1074/JBC.M601505200 Variant Set Distributions Mapped Variants

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3G9V.C | IL22RA2

General Structure Information 3g9v IL22RA2 crystal structure of a soluble decoy receptor il-22bp bound to interleukin-22 2.76Å AUTH P.R.DE MOURA,L.WATANABE,L.BLEICHER,D.COLAU,AUTH 2 L.DUMOUTIER,M.M.LEMAIRE,J.-C.RENAULD,I.POLIKARPOVTITL CRYSTAL STRUCTURE OF A SOLUBLE DECOY RECEPTORTITL 2 IL-22BP BOUND TO INTERLEUKIN-22REF FEBS LETT. V. 583 1072 2009REFN ISSN 0014-5793PMID 19285080DOI 10.1016/J.FEBSLET.2009.03.006 Variant Set Distributions Mapped Variants

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4HTI.A | PTPRN2

General Structure Information 4hti PTPRN2 crystallographic structure of the membrane-proximal ectodomain of the human receptor-type protein-tyrosine phosphatase phogrin 1.95Å AUTH M.E.NOGUERA,M.E.PRIMO,J.JAKONCIC,E.POSKUS,M.SOLIMENA,AUTH 2 M.R.ERMACORATITL X-RAY STRUCTURE OF THE MATURE ECTODOMAIN OF PHOGRIN.REF J.STRUCT.FUNCT.GENOM. V. 16 1 2015REFN ISSN 1345-711XPMID 25421040DOI 10.1007/S10969-014-9191-0 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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