1X3B.A | TGFBI

General Structure Information 1x3b TGFBI solution structure of the fas1 domain of human transforming growth factor-beta induced protein ig-h3 -1.0Å AUTH M.YONEYAMA,T.TOMIZAWA,N.TOCHIO,S.KOSHIBA,M.INOUE,AUTH 2 T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FAS1 DOMAIN OF HUMANTITL 2 TRANSFORMING GROWTH FACTOR-BETA INDUCED PROTEINTITL 3 IG-H3REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1X3B.A | TGFBI

General Structure Information 1x3b TGFBI solution structure of the fas1 domain of human transforming growth factor-beta induced protein ig-h3 -1.0Å AUTH M.YONEYAMA,T.TOMIZAWA,N.TOCHIO,S.KOSHIBA,M.INOUE,AUTH 2 T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FAS1 DOMAIN OF HUMANTITL 2 TRANSFORMING GROWTH FACTOR-BETA INDUCED PROTEINTITL 3 IG-H3REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1X3B.A | TGFBI

General Structure Information 1x3b TGFBI solution structure of the fas1 domain of human transforming growth factor-beta induced protein ig-h3 -1.0Å AUTH M.YONEYAMA,T.TOMIZAWA,N.TOCHIO,S.KOSHIBA,M.INOUE,AUTH 2 T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE FAS1 DOMAIN OF HUMANTITL 2 TRANSFORMING GROWTH FACTOR-BETA INDUCED PROTEINTITL 3 IG-H3REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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4DPG.F | KARS

General Structure Information 4dpg KARS crystal structure of human lysrs: p38/aimp2 complex i 2.84Å AUTH Y.OFIR-BIRIN,P.FANG,S.P.BENNETT,H.M.ZHANG,J.WANG,I.RACHMIN,AUTH 2 R.SHAPIRO,J.SONG,A.DAGAN,J.POZO,S.KIM,A.G.MARSHALL,AUTH 3 P.SCHIMMEL,X.L.YANG,H.NECHUSHTAN,E.RAZIN,M.GUOTITL STRUCTURAL SWITCH OF LYSYL-TRNA SYNTHETASE BETWEENTITL 2 TRANSLATION AND TRANSCRIPTION.REF MOL.CELL V. 49 30 2013REFN ISSN 1097-2765PMID 23159739DOI 10.1016/J.MOLCEL.2012.10.010 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DPG.F | KARS

General Structure Information 4dpg KARS crystal structure of human lysrs: p38/aimp2 complex i 2.84Å AUTH Y.OFIR-BIRIN,P.FANG,S.P.BENNETT,H.M.ZHANG,J.WANG,I.RACHMIN,AUTH 2 R.SHAPIRO,J.SONG,A.DAGAN,J.POZO,S.KIM,A.G.MARSHALL,AUTH 3 P.SCHIMMEL,X.L.YANG,H.NECHUSHTAN,E.RAZIN,M.GUOTITL STRUCTURAL SWITCH OF LYSYL-TRNA SYNTHETASE BETWEENTITL 2 TRANSLATION AND TRANSCRIPTION.REF MOL.CELL V. 49 30 2013REFN ISSN 1097-2765PMID 23159739DOI 10.1016/J.MOLCEL.2012.10.010 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4DPG.F | KARS

General Structure Information 4dpg KARS crystal structure of human lysrs: p38/aimp2 complex i 2.84Å AUTH Y.OFIR-BIRIN,P.FANG,S.P.BENNETT,H.M.ZHANG,J.WANG,I.RACHMIN,AUTH 2 R.SHAPIRO,J.SONG,A.DAGAN,J.POZO,S.KIM,A.G.MARSHALL,AUTH 3 P.SCHIMMEL,X.L.YANG,H.NECHUSHTAN,E.RAZIN,M.GUOTITL STRUCTURAL SWITCH OF LYSYL-TRNA SYNTHETASE BETWEENTITL 2 TRANSLATION AND TRANSCRIPTION.REF MOL.CELL V. 49 30 2013REFN ISSN 1097-2765PMID 23159739DOI 10.1016/J.MOLCEL.2012.10.010 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3BFN.A | KIF22

General Structure Information 3bfn KIF22 crystal structure of the motor domain of human kinesin family member 22 2.3Å AUTH H.ZHU,Y.SHEN,W.TEMPEL,E.DOBROVETSKY,F.MACKENZIE,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE MOTOR DOMAIN OF HUMAN KINESINTITL 2 FAMILY MEMBER 22.REF TO BE PUBLISHEDREFN Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1I3N.B | GALE

General Structure Information 1i3n GALE molecular basis for severe epimerase-deficiency galactosemia: x-ray structure of the human v94m- substituted udp-galactose 4-epimerase 1.5Å AUTH J.B.THODEN,T.M.WOHLERS,J.L.FRIDOVICH-KEIL,AUTH 2 H.M.HOLDENTITL MOLECULAR BASIS FOR SEVERE EPIMERASE DEFICIENCYTITL 2 GALACTOSEMIA. X-RAY STRUCTURE OF THE HUMANTITL 3 V94M-SUBSTITUTED UDP-GALACTOSE 4-EPIMERASE.REF J.BIOL.CHEM. V. 276 20617 2001REFN ISSN 0021-9258PMID 11279193DOI 10.1074/JBC.M101304200 Variant Set Distributions Pathogenic […]

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4DCK.A | SCN5A

General Structure Information 4dck SCN5A crystal structure of the c-terminus of voltage-gated sodium channel in complex with fgf13 and cam 2.2Å AUTH C.WANG,B.C.CHUNG,H.YAN,S.Y.LEE,G.S.PITTTITL CRYSTAL STRUCTURE OF THE TERNARY COMPLEX OF A NAV C-TERMINALTITL 2 DOMAIN, A FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR, ANDTITL 3 CALMODULIN.REF STRUCTURE V. 20 1167 2012REFN ISSN 0969-2126PMID 22705208DOI 10.1016/J.STR.2012.05.001 Variant Set […]

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4DCK.A | SCN5A

General Structure Information 4dck SCN5A crystal structure of the c-terminus of voltage-gated sodium channel in complex with fgf13 and cam 2.2Å AUTH C.WANG,B.C.CHUNG,H.YAN,S.Y.LEE,G.S.PITTTITL CRYSTAL STRUCTURE OF THE TERNARY COMPLEX OF A NAV C-TERMINALTITL 2 DOMAIN, A FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR, ANDTITL 3 CALMODULIN.REF STRUCTURE V. 20 1167 2012REFN ISSN 0969-2126PMID 22705208DOI 10.1016/J.STR.2012.05.001 Variant Set […]

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