4GL2.B | IFIH1

General Structure Information

PDB ID	4gl2
HGNC Gene Label(s)	IFIH1
Structure Name	structural basis for dsrna duplex backbone recognition by mda5
Resolution	3.56Å
Reference	AUTH B.WU,A.PEISLEY,C.RICHARDS,H.YAO,X.ZENG,C.LIN,F.CHU,T.WALZ,AUTH 2 S.HURTITL STRUCTURAL BASIS FOR DSRNA RECOGNITION, FILAMENT FORMATION,TITL 2 AND ANTIVIRAL SIGNAL ACTIVATION BY MDA5.REF CELL(CAMBRIDGE,MASS.) V. 152 276 2013REFN ISSN 0092-8674PMID 23273991DOI 10.1016/J.CELL.2012.11.048

Variant Set Distributions

ExAC Variants

Number Of Residues	615
Number Of SNVs	188
Number Of Permutations	72252
Optimal Distance Threshold	12.0
K Statistic	0.052
p-value	0.105

COSMIC

Number Of Residues	615
Number Of SNVs	9
Number Of Permutations	3494
Optimal Distance Threshold	16.0
K Statistic	0.028
p-value	0.766

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	188
Number Of COSMIC SNVs	6
Optimal Distance Threshold	28.0
K Statistic	-0.188
p-value	0.984

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:163144823		L>H	B:306	(8.21, -28.58, 41.57)
2:163144776		G>R	B:322	(-10.67, -31.41, 42.53)
2:163144755		L>F	B:329	(-0.75, -17.98, 50.69)
2:163144752	rs141848057	P>S	B:330	(0.64, -14.24, 53.59)
2:163144691		K>R	B:350	(-6.07, -34.71, 33.12)
2:163144689	rs35207787	K>E	B:351	(-2.55, -38.76, 31.40)
2:163144679	COSM1008379	S>F	B:354	(-7.10, -41.27, 29.31)
2:163144674	rs150317197	P>T	B:356	(-9.08, -34.13, 27.70)
2:163144665		V>L	B:359	(-3.66, -25.42, 32.26)
2:163144659		V>I	B:361	(-2.47, -19.82, 33.64)
2:163144647	rs117608083	K>E	B:365	(0.07, -6.12, 35.48)
2:163139085	rs140977021	V>E	B:366	(1.60, -7.16, 29.49)
2:163139061	rs145520044	R>H	B:374	(12.10, -15.38, 31.99)
2:163139062	rs113854430	R>C	B:374	(12.10, -15.38, 31.99)
2:163139052		F>S	B:377	(3.58, -21.62, 35.38)
2:163139048		Q>H	B:378	(8.98, -22.64, 30.67)
2:163139040		L>S	B:381	(5.62, -27.37, 34.13)
2:163139032		W>R	B:384	(7.89, -32.85, 33.13)
2:163139025	rs138611889	R>H	B:386	(5.66, -27.56, 24.34)
2:163139026	COSM3568532	R>G	B:386	(5.66, -27.56, 24.34)
2:163139016		G>E	B:389	(2.94, -17.30, 26.83)
2:163138974		V>A	B:403	(-2.54, -21.15, 20.66)
2:163138972		V>I	B:404	(-6.21, -23.81, 22.93)
2:163138963		C>R	B:407	(-0.14, -25.61, 23.83)
2:163138960	rs148540097	D>N	B:408	(-0.22, -28.73, 27.43)
2:163138957		I>V	B:409	(0.63, -25.05, 30.55)
2:163138953		I>S	B:410	(-2.45, -21.44, 27.16)
2:163138954		I>V	B:410	(-2.45, -21.44, 27.16)
2:163138944		T>R	B:413	(-3.63, -10.95, 29.30)
2:163138942	rs201917037	A>P	B:414	(-7.88, -11.82, 31.31)
2:163138939	rs575678322	Q>K	B:415	(-9.96, -8.51, 28.03)
2:163138933		L>I	B:417	(-10.54, -16.60, 27.75)
2:163138923		S>F	B:420	(-12.05, -16.07, 22.13)
2:163138890		G>D	B:431	(-13.87, -20.63, 18.51)
2:163138049	rs201525208	S>F	B:438	(-8.79, -28.58, 32.54)
2:163138050	rs139714761	S>P	B:438	(-8.79, -28.58, 32.54)
2:163138040		I>T	B:441	(-4.26, -21.01, 37.63)
2:163138009	COSM476107	E>D	B:451	(-19.15, -5.28, 35.51)
2:163138007	rs147642994	A>V	B:452	(-14.26, -7.09, 36.23)
2:163138004	rs558005930	V>G	B:453	(-11.61, -8.37, 32.74)
2:163138005	rs367921237	V>L	B:453	(-11.61, -8.37, 32.74)
2:163137999		N>D	B:455	(-17.19, -11.28, 37.21)
2:163137989		M>T	B:458	(-15.53, -16.52, 36.31)
2:163137982		H>Q	B:460	(-19.36, -16.31, 30.16)
2:163137983	rs10930046	H>R	B:460	(-19.36, -16.31, 30.16)
2:163137984	rs190032248	H>Y	B:460	(-19.36, -16.31, 30.16)
2:163137980		Y>C	B:461	(-17.34, -21.48, 35.37)
2:163137962		K>R	B:467	(-27.23, -25.85, 32.46)
2:163137923		P>H	B:480	(-17.22, -31.43, 30.36)
2:163137913		Q>H	B:483	(-10.23, -27.26, 38.81)
2:163137905	rs141748480	G>A	B:486	(-7.91, -19.30, 42.93)
2:163137891		P>S	B:491	(-9.80, -11.50, 49.96)
2:163137881	rs147000317	G>V	B:494	(-16.68, -3.82, 50.51)
2:163137875		A>D	B:496	(-18.45, -1.77, 54.48)
2:163137876		A>T	B:496	(-18.45, -1.77, 54.48)
2:163137873		T>A	B:497	(-17.55, 0.91, 58.23)
2:163137864		A>T	B:500	(-22.08, -7.60, 58.76)
2:163137846	rs535192485	I>V	B:506	(-15.29, -12.41, 51.66)
2:163137840		K>E	B:508	(-19.57, -12.77, 46.90)
2:163136621		L>R	B:509	(-14.43, -13.21, 45.87)
2:163136595		I>V	B:518	(-11.02, -18.15, 51.28)
2:163136589	rs145641024	T>A	B:520	(-6.70, -19.56, 54.89)
2:163136583		K>E	B:522	(-3.55, -22.58, 59.74)
2:163136579		E>G	B:523	(-2.05, -27.08, 60.48)
2:163136571	COSM418523	D>Y	B:526	(4.60, -20.91, 63.32)
2:163136547		E>K	B:534	(6.10, -8.17, 58.69)
2:163136544	COSM1494669	P>T	B:535	(6.22, -4.44, 57.47)
2:163136538	rs374396452	K>E	B:537	(4.57, 0.38, 60.98)
2:163136533		K>N	B:538	(8.73, 4.17, 62.09)
2:163134822		K>I	B:553	(2.10, 35.48, 47.19)
2:163134808		M>V	B:558	(-6.22, 32.57, 42.84)
2:163134805		T>A	B:559	(-8.09, 37.06, 45.44)
2:163134786	rs560193080	C>F	B:565	(-14.50, 37.25, 36.79)
2:163134779		M>I	B:567	(-16.23, 34.18, 39.44)
2:163134770		M>I	B:570	(-17.67, 28.93, 48.75)
2:163134772		M>V	B:570	(-17.67, 28.93, 48.75)
2:163134766		D>N	B:572	(-11.04, 27.70, 51.16)
2:163134759		G>E	B:574	(-6.03, 25.13, 47.35)
2:163134757	rs138057665	T>A	B:575	(-9.23, 22.93, 48.42)
2:163134742		Q>K	B:580	(-14.99, 19.65, 42.58)
2:163134736	rs369588089	A>S	B:582	(-13.09, 25.47, 38.77)
2:163134723	COSM1400474	E>G	B:586	(-14.91, 25.79, 32.30)
2:163134200		A>V	B:590	(-18.88, 26.85, 27.57)
2:163134182		K>R	B:596	(-14.74, 37.71, 31.57)
2:163134176	rs200945986	R>H	B:598	(-15.77, 30.36, 27.88)
2:163134177	rs200741709	R>C	B:598	(-15.77, 30.36, 27.88)
2:163134174		V>F	B:599	(-10.36, 32.40, 29.82)
2:163134168		A>T	B:601	(-12.30, 29.13, 35.17)
2:163134163		E>D	B:602	(-8.86, 27.29, 31.87)
2:163134158		L>S	B:604	(-9.08, 30.73, 38.69)
2:163134146		N>S	B:608	(-6.32, 25.34, 42.38)
2:163134147		N>D	B:608	(-6.32, 25.34, 42.38)
2:163134141	rs558387118	A>T	B:610	(0.05, 25.52, 41.69)
2:163134135		Q>K	B:612	(-3.99, 21.54, 44.95)
2:163134131	COSM1400471	I>T	B:613	(1.86, 20.43, 43.29)
2:163134116	rs200017837 COSM3568527	R>Q	B:618	(11.98, 22.97, 46.87)
2:163134114	rs375482697	M>V	B:619	(7.79, 25.39, 45.28)
2:163134109		I>M	B:620	(11.40, 24.77, 42.17)
2:163134107		D>V	B:621	(7.46, 21.87, 41.02)
2:163134096		H>N	B:625	(1.98, 23.29, 36.75)
2:163134083	rs200980825	F>S	B:629	(-1.05, 27.34, 31.53)
2:163134084	rs145818112	F>V	B:629	(-1.05, 27.34, 31.53)
2:163134080		Y>C	B:630	(0.31, 31.55, 31.93)
2:163134070	rs550930413	E>D	B:633	(-1.47, 29.88, 26.79)
2:163134060		K>E	B:637	(-4.07, 32.61, 22.88)
2:163133961	rs370203250	D>N	B:670	(-8.60, 38.64, 24.03)
2:163133954	rs527242746	T>I	B:672	(-9.79, 38.44, 28.90)
2:163133948		R>K	B:674	(-4.55, 42.89, 26.72)
2:163133942		L>H	B:676	(-5.60, 36.20, 32.62)
2:163133435		R>K	B:689	(12.58, 33.94, 43.49)
2:163133432	rs189782013	L>P	B:690	(9.24, 34.13, 46.41)
2:163133399		L>Q	B:701	(9.78, 17.91, 50.15)
2:163133396	rs72650663	T>I	B:702	(11.39, 18.75, 55.13)
2:163133386	rs185928139	R>S	B:705	(15.47, 16.21, 53.36)
2:163133379	rs370796923	I>V	B:708	(15.26, 8.99, 52.12)
2:163133363	rs201841403	T>S	B:713	(22.45, 5.90, 58.93)
2:163133361		R>G	B:714	(18.82, 1.29, 61.31)
2:163133358	COSM1528589	T>A	B:715	(21.21, -0.65, 56.40)
2:163133352		E>Q	B:717	(22.42, -1.44, 50.95)
2:163133322		T>A	B:727	(-0.06, 13.14, 41.47)
2:163133309		A>V	B:731	(6.48, 10.88, 40.56)
2:163133310		A>S	B:731	(6.48, 10.88, 40.56)
2:163133303	rs200251981	A>V	B:733	(8.88, 16.17, 40.97)
2:163133301		L>F	B:734	(9.22, 13.40, 44.76)
2:163133290	rs375941146	W>C	B:737	(13.76, 16.92, 46.64)
2:163133285		T>N	B:739	(18.62, 14.09, 41.17)
2:163133269	rs201142986	F>L	B:744	(19.69, 12.86, 48.62)
2:163133262	rs200389061	V>I	B:747	(19.91, 7.68, 47.38)
2:163133207	rs376380607	P>L	B:765	(2.14, 7.30, 28.76)
2:163133205		M>V	B:766	(7.06, 4.91, 31.39)
2:163133202		T>A	B:767	(6.95, 2.42, 26.85)
2:163130443		K>N	B:772	(10.12, -5.38, 30.60)
2:163130439		V>I	B:774	(12.91, 1.26, 36.01)
2:163130433		S>G	B:776	(15.43, -4.85, 35.26)
2:163130425		F>L	B:778	(15.12, -1.56, 42.31)
2:163130402		L>P	B:786	(20.22, 3.32, 45.36)
2:163130403		L>F	B:786	(20.22, 3.32, 45.36)
2:163130397	rs148369169	A>T	B:788	(11.71, 3.41, 43.05)
2:163130393		T>I	B:789	(9.34, 7.12, 42.96)
2:163130391		T>A	B:790	(5.49, 3.58, 42.51)
2:163130375		G>D	B:795	(1.82, -6.97, 40.16)
2:163130376	rs141366758	G>S	B:795	(1.82, -6.97, 40.16)
2:163130367		I>V	B:798	(11.67, -6.25, 42.92)
2:163130351		I>T	B:803	(12.68, 2.76, 53.00)
2:163130352		I>V	B:803	(12.68, 2.76, 53.00)
2:163130345		I>S	B:805	(8.34, 6.10, 51.94)
2:163130342	rs562743627 COSM1008375	R>H	B:806	(1.74, 4.07, 50.86)
2:163130343	rs144341455	R>C	B:806	(1.74, 4.07, 50.86)
2:163130339		Y>C	B:807	(4.72, 11.85, 49.96)
2:163130331		V>I	B:810	(-5.97, 7.33, 51.13)
2:163130325	COSM3668543	N>D	B:812	(-8.10, -0.12, 48.56)
2:163130316		A>P	B:815	(-3.91, -1.69, 47.81)
2:163130311	rs569872801	M>I	B:816	(-2.31, -1.43, 53.39)
2:163130306		Q>R	B:818	(-0.81, -6.11, 47.11)
2:163128896	rs200810568	A>D	B:819	(1.94, -1.96, 49.46)
2:163128893	rs74162087	R>H	B:820	(1.85, -4.44, 54.43)
2:163128869	rs372817657	S>N	B:828	(10.66, -4.62, 56.17)
2:163128866		T>I	B:829	(10.71, -0.44, 57.69)
2:163128861		V>I	B:831	(7.12, 5.24, 56.51)
2:163128857		L>P	B:832	(1.63, 7.20, 56.23)
2:163128846		S>G	B:836	(-0.15, 18.09, 61.08)
2:163128829		I>M	B:841	(-3.71, 10.06, 60.04)
2:163128827		E>V	B:842	(-8.16, 10.05, 60.02)
2:163128828	rs79324540	E>K	B:842	(-8.16, 10.05, 60.02)
2:163128824	rs3747517	H>R	B:843	(-8.15, 9.48, 53.86)
2:163128825	COSM138326	H>Y	B:843	(-8.15, 9.48, 53.86)
2:163128803	rs370618144	R>Q	B:850	(-12.11, -0.91, 55.70)
2:163128795		M>V	B:853	(-13.05, -6.12, 59.70)
2:163128791	rs138373022	M>R	B:854	(-9.52, -9.20, 55.37)
2:163128782		A>G	B:857	(-14.46, -11.91, 57.39)
2:163128776		H>R	B:859	(-12.21, -17.91, 60.54)
2:163128755	rs200833729 COSM3568523	P>L	B:866	(-21.03, -27.84, 55.00)
2:163128752	rs143054245	E>G	B:867	(-25.96, -27.49, 55.62)
2:163128746		Y>C	B:869	(-20.64, -21.89, 51.68)
2:163128743	rs566965537	A>V	B:870	(-23.93, -24.60, 49.60)
2:163128741		H>Y	B:871	(-28.54, -24.52, 50.08)
2:163128738		K>Q	B:872	(-26.49, -17.34, 51.82)
2:163124782		L>F	B:874	(-25.96, -22.57, 44.78)
2:163124770		M>I	B:878	(-30.00, -17.99, 41.48)
2:163124765		S>I	B:880	(-24.64, -13.15, 39.66)
2:163124761		I>M	B:881	(-27.22, -15.72, 36.33)
2:163124762		I>T	B:881	(-27.22, -15.72, 36.33)
2:163124759		M>T	B:882	(-29.58, -11.87, 36.48)
2:163124747		M>T	B:886	(-30.72, -8.11, 31.90)
2:163124705		P>L	B:900	(-27.03, 11.80, 12.16)
2:163124690	rs371419955	F>S	B:905	(-19.23, 20.47, 16.42)
2:163124680		K>N	B:908	(-15.81, 25.56, 23.23)
2:163124678		N>I	B:909	(-12.89, 28.96, 23.78)
2:163124663		A>V	B:914	(-16.13, 24.90, 13.66)
2:163124655		G>R	B:917	(-21.98, 17.52, 11.55)
2:163124645		I>N	B:920	(-17.42, 15.07, 11.71)
2:163124636		I>T	B:923	(-10.80, 6.25, 9.77)
2:163124637	rs35667974	I>V	B:923	(-10.80, 6.25, 9.77)
2:163124626		M>I	B:926	(-11.74, 2.98, 15.84)
2:163124619	rs140562355	V>I	B:929	(-11.56, 12.16, 10.69)
2:163124615		N>S	B:930	(-13.27, 17.31, 9.45)
2:163124616	rs374202040	N>H	B:930	(-13.27, 17.31, 9.45)
2:163124006		I>L	B:961	(-4.17, 25.55, 17.41)
2:163123994	rs202009944	G>S	B:965	(-6.01, 29.20, 19.99)
2:163123989		Q>H	B:966	(-8.64, 26.28, 22.89)
2:163123889		A>T	B:967	(-6.57, 23.17, 21.52)
2:163123871		V>M	B:973	(-0.66, 10.89, 8.96)
2:163123868		H>Y	B:974	(-3.37, 5.65, 7.11)
2:163123847		C>S	B:981	(-8.33, 13.78, 14.38)
2:163123836		I>M	B:984	(-16.04, 15.34, 21.78)
2:163123838		I>V	B:984	(-16.04, 15.34, 21.78)
2:163123834		R>T	B:985	(-13.69, 17.72, 24.41)
2:163123828		F>S	B:987	(-15.23, 20.82, 19.42)
2:163123826	rs74162090	V>L	B:988	(-20.29, 23.44, 22.77)
2:163123774		E>A	B:1005	(-20.79, 10.07, 26.06)
2:163123752	rs528639734	N>K	B:1012	(-17.79, 4.37, 8.51)

4GL2.B | IFIH1.

4GL2.B | IFIH1

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:163144789	COSM717204	Q>H	B:317	(-4.86, -31.37, 50.26)
2:163144730	COSM1752072	R>T	B:337	(7.07, -22.78, 43.34)
2:163144688	COSM1400478	K>R	B:351	(-2.55, -38.76, 31.40)
2:163144689	COSM71129	K>E	B:351	(-2.55, -38.76, 31.40)
2:163137983	COSM4418325	H>R	B:460	(-19.36, -16.31, 30.16)
2:163134170	COSM244992	C>Y	B:600	(-11.07, 32.99, 34.04)
2:163134104	COSM207537	A>V	B:622	(4.43, 25.15, 42.06)
2:163130424	COSM275529	R>C	B:779	(15.84, -7.70, 38.73)
2:163130342	COSM1008375	R>H	B:806	(1.74, 4.07, 50.86)
2:163128824	COSM4418116	H>R	B:843	(-8.15, 9.48, 53.86)