Assessment of Structural Intolerance and Durability
General Structure Information 1jo6 KCNMB2 solution structure of the cytoplasmic n-terminus of the bk beta-subunit kcnmb2 -1.0Å AUTH D.BENTROP,M.BEYERMANN,R.WISSMANN,B.FAKLERTITL NMR STRUCTURE OF THE BALL-AND-CHAIN DOMAIN OFTITL 2 KCNMB2, THE BETA 2-SUBUNIT OF LARGE CONDUCTANCETITL 3 CA2+- AND VOLTAGE-ACTIVATED POTASSIUM CHANNELS.REF J.BIOL.CHEM. V. 276 42116 2001REFN ISSN 0021-9258PMID 11517232DOI 10.1074/JBC.M107118200 Variant Set Distributions Mapped Variants
General Structure Information 3hd6 RHCG crystal structure of the human rhesus glycoprotein rhcg 2.1Å AUTH F.GRUSWITZ,S.CHAUDHARY,J.D.HO,A.SCHLESSINGER,B.PEZESHKI,AUTH 2 C.M.HO,A.SALI,C.M.WESTHOFF,R.M.STROUDTITL FUNCTION OF HUMAN RH BASED ON STRUCTURE OF RHCG AT 2.1 A.REF PROC.NATL.ACAD.SCI.USA V. 107 9638 2010REFN ISSN 0027-8424PMID 20457942DOI 10.1073/PNAS.1003587107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants
General Structure Information 2i2r KCNIP1 crystal structure of the kchip1/kv4.3 t1 complex 3.35Å AUTH M.PIOLETTI,F.FINDEISEN,G.L.HURA,D.L.MINOR JR.TITL THREE-DIMENSIONAL STRUCTURE OF THE KCHIP1-KV4.3 T1 COMPLEXTITL 2 REVEALS A CROSS-SHAPED OCTAMERREF NAT.STRUCT.MOL.BIOL. V. 13 987 2006REFN ISSN 1545-9993PMID 17057713DOI 10.1038/NSMB1164 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 4i9w KCNK4 human two pore domain k+ channel traak (k2p4.1) – fab complex structure 2.75Å AUTH S.G.BROHAWN,E.B.CAMPBELL,R.MACKINNONTITL DOMAIN-SWAPPED CHAIN CONNECTIVITY AND GATED MEMBRANE ACCESSTITL 2 IN A FAB-MEDIATED CRYSTAL OF THE HUMAN TRAAK K+ CHANNEL.REF PROC.NATL.ACAD.SCI.USA V. 110 2129 2013REFN ISSN 0027-8424PMID 23341632DOI 10.1073/PNAS.1218950110 Variant Set Distributions Mapped Variants
General Structure Information 4l1d SCN3B voltage-gated sodium channel beta3 subunit ig domain 2.5Å AUTH S.NAMADURAI,D.BALASURIYA,R.RAJAPPA,M.WIEMHOFER,K.STOTT,AUTH 2 J.KLINGAUF,J.M.EDWARDSON,D.Y.CHIRGADZE,A.P.JACKSONTITL CRYSTAL STRUCTURE AND MOLECULAR IMAGING OF THE NAV CHANNELTITL 2 BETA 3 SUBUNIT INDICATES A TRIMERIC ASSEMBLY.REF J.BIOL.CHEM. V. 289 10797 2014REFN ISSN 0021-9258PMID 24567321DOI 10.1074/JBC.M113.527994 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants
General Structure Information 4dx1 TRPV4 crystal structure of the human trpv4 ankyrin repeat domain 2.85Å AUTH H.INADA,E.PROCKO,M.SOTOMAYOR,R.GAUDETTITL STRUCTURAL AND BIOCHEMICAL CONSEQUENCES OF DISEASE-CAUSINGTITL 2 MUTATIONS IN THE ANKYRIN REPEAT DOMAIN OF THE HUMAN TRPV4TITL 3 CHANNEL.REF BIOCHEMISTRY V. 51 6195 2012REFN ISSN 0006-2960PMID 22702953DOI 10.1021/BI300279B Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]
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
General Structure Information 3a2a HVCN1 the structure of the carboxyl-terminal domain of the human voltage- gated proton channel hv1 2.0Å AUTH S.J.LI,Q.ZHAO,Q.ZHOU,H.UNNO,Y.ZHAI,F.SUNTITL THE ROLE AND STRUCTURE OF THE CARBOXYL-TERMINAL DOMAIN OFTITL 2 THE HUMAN VOLTAGE-GATED PROTON CHANNEL HV1.REF J.BIOL.CHEM. V. 285 12047 2010REFN ISSN 0021-9258PMID 20147290DOI 10.1074/JBC.M109.040360 Variant Set Distributions Mapped Variants
General Structure Information 2kle PKD2 isic refined solution structure of the calcium binding domain of the c-terminal cytosolic domain of polycystin-2 -1.0Å AUTH F.H.SCHUMANN,H.HOFFMEISTER,M.SCHMIDT,R.BADER,AUTH 2 E.BESL,R.WITZGALL,H.R.KALBITZERTITL NMR-ASSIGNMENTS OF A CYTOSOLIC DOMAIN OF THETITL 2 C-TERMINUS OF POLYCYSTIN-2REF BIOMOL.NMR ASSIGN. V. 3 141 2009REFN ISSN 1874-2718PMID 19636966DOI 10.1007/S12104-009-9160-X Variant Set Distributions Mapped Variants
General Structure Information 4erv RYR3 crystal structure of human ryanodine receptor 3 (2597-2800) 1.75Å AUTH Z.YUCHI,K.LAU,F.VAN PETEGEMTITL DISEASE MUTATIONS IN THE RYANODINE RECEPTOR CENTRAL REGION:TITL 2 CRYSTAL STRUCTURES OF A PHOSPHORYLATION HOT SPOT DOMAIN.REF STRUCTURE V. 20 1201 2012REFN ISSN 0969-2126PMID 22705209DOI 10.1016/J.STR.2012.04.015 Variant Set Distributions Mapped Variants