2HI4.A | CYP1A2

General Structure Information

PDB ID	2hi4
HGNC Gene Label(s)	CYP1A2
Structure Name	crystal structure of human microsomal p450 1a2 in complex with alpha-naphthoflavone
Resolution	1.95Å
Reference	AUTH S.SANSEN,J.K.YANO,R.L.REYNALD,G.A.SCHOCH,AUTH 2 K.J.GRIFFIN,C.D.STOUT,E.F.JOHNSONTITL ADAPTATIONS FOR THE OXIDATION OF POLYCYCLICTITL 2 AROMATIC HYDROCARBONS EXHIBITED BY THE STRUCTURETITL 3 OF HUMAN P450 1A2.REF J.BIOL.CHEM. V. 282 14348 2007REFN ISSN 0021-9258PMID 17311915DOI 10.1074/JBC.M611692200

Variant Set Distributions

ExAC Variants

Number Of Residues	480
Number Of SNVs	166
Number Of Permutations	30054
Optimal Distance Threshold	9.0
K Statistic	0.026
p-value	0.553

COSMIC

Number Of Residues	480
Number Of SNVs	9
Number Of Permutations	8804
Optimal Distance Threshold	8.0
K Statistic	0.056
p-value	0.671

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	166
Number Of COSMIC SNVs	9
Optimal Distance Threshold	8.0
K Statistic	0.035
p-value	0.839

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
15:75042189		K>R	A:37	(26.10, 39.25, -8.42)
15:75042198	rs200789139	K>R	A:40	(28.94, 33.63, -0.64)
15:75042203		P>S	A:42	(25.62, 29.55, 3.90)
15:75042209	rs3743482	E>K	A:44	(28.12, 23.12, 3.02)
15:75042219		G>D	A:47	(29.82, 15.46, 2.12)
15:75042221	rs201763966	W>G	A:48	(30.45, 10.93, 2.74)
15:75042230	COSM1478351	L>F	A:51	(24.06, 10.13, 2.72)
15:75042233	rs376605220	G>R	A:52	(25.51, 13.89, 3.36)
15:75042237		H>L	A:53	(26.18, 16.35, 6.29)
15:75042261		P>L	A:61	(21.00, 15.19, 16.56)
15:75042269		A>T	A:64	(26.51, 16.96, 16.52)
15:75042273	rs71651689	L>P	A:65	(24.50, 20.00, 14.89)
15:75042287		Q>E	A:70	(31.45, 24.43, 18.71)
15:75042290		R>C	A:71	(34.97, 22.82, 12.73)
15:75042291		R>H	A:71	(34.97, 22.82, 12.73)
15:75042296	rs45565238	G>R	A:73	(28.97, 28.35, 13.11)
15:75042297		G>E	A:73	(28.97, 28.35, 13.11)
15:75042302	rs150164960	V>I	A:75	(25.08, 30.62, 10.22)
15:75042314	COSM1737262	R>C	A:79	(23.01, 19.29, 1.94)
15:75042327	rs138652540	T>M	A:83	(17.68, 18.58, 1.82)
15:75042336		L>P	A:86	(19.90, 26.94, 8.11)
15:75042347	rs556218799 COSM1938753	R>C	A:90	(25.86, 31.81, 19.43)
15:75042348	rs201551575 COSM1374560	R>H	A:90	(25.86, 31.81, 19.43)
15:75042354		D>G	A:92	(23.15, 36.57, 19.25)
15:75042357		T>I	A:93	(22.03, 34.41, 15.20)
15:75042362		R>W	A:95	(16.33, 38.54, 18.91)
15:75042372		L>Q	A:98	(13.40, 33.61, 15.08)
15:75042377	rs145266863	R>W	A:100	(16.06, 41.47, 15.45)
15:75042378	rs201650099 COSM1374561	R>Q	A:100	(16.06, 41.47, 15.45)
15:75042386		D>N	A:103	(7.81, 37.66, 8.34)
15:75042389	rs34067076	D>N	A:104	(11.85, 36.29, 6.84)
15:75042401		R>W	A:108	(6.70, 25.48, 10.91)
15:75042402	rs376179316 COSM1323847	R>Q	A:108	(6.70, 25.48, 10.91)
15:75042407		D>N	A:110	(6.22, 20.12, 3.30)
15:75042410	rs45442197	L>F	A:111	(8.25, 17.79, 6.80)
15:75042414		Y>C	A:112	(6.03, 11.56, 5.49)
15:75042419	rs201820772	S>P	A:114	(4.04, 16.86, 9.32)
15:75042425	rs377141209	L>F	A:116	(1.36, 11.68, 9.09)
15:75042438		G>V	A:120	(-2.96, 18.44, 8.59)
15:75042450		T>I	A:124	(2.34, 23.23, 15.46)
15:75042454	rs141543251	F>L	A:125	(3.59, 20.20, 13.35)
15:75042461		D>N	A:128	(-0.45, 28.19, 7.23)
15:75042471		P>L	A:131	(-3.15, 35.39, 7.51)
15:75042485	rs368187861	R>C	A:136	(-5.65, 28.49, 13.58)
15:75042486	rs150893756	R>H	A:136	(-5.65, 28.49, 13.58)
15:75042488	COSM964891	R>W	A:137	(-0.34, 32.00, 17.89)
15:75042489	rs139412032	R>Q	A:137	(-0.34, 32.00, 17.89)
15:75042491		R>C	A:138	(-4.84, 36.74, 18.93)
15:75042492	rs59410695	R>H	A:138	(-4.84, 36.74, 18.93)
15:75042494		L>M	A:139	(-8.55, 32.19, 18.34)
15:75042504		N>S	A:142	(-6.96, 34.46, 23.54)
15:75042522		S>C	A:148	(-5.37, 29.34, 32.49)
15:75042527	rs192799115	A>T	A:150	(-7.12, 33.87, 33.94)
15:75042531		S>F	A:151	(-9.25, 35.04, 36.75)
15:75042533		D>N	A:152	(-12.36, 31.62, 38.16)
15:75042536		P>A	A:153	(-15.09, 33.66, 37.65)
15:75042539		A>T	A:154	(-16.20, 31.36, 40.84)
15:75042554		C>S	A:159	(-6.27, 30.94, 38.30)
15:75042563		E>K	A:162	(-3.88, 28.23, 41.52)
15:75042573		V>G	A:165	(-2.66, 22.33, 39.94)
15:75042581	rs72547512	E>Q	A:168	(-4.21, 16.47, 40.41)
15:75042591		A>D	A:171	(-4.19, 13.71, 44.58)
15:75042604		R>S	A:175	(-1.91, 9.14, 43.09)
15:75042605		L>M	A:176	(2.66, 9.16, 45.73)
15:75042611		E>K	A:178	(-2.32, 5.08, 48.08)
15:75042617	rs56075956	M>V	A:180	(5.25, 4.23, 49.49)
15:75042638	rs369511887	D>N	A:187	(7.08, 5.52, 37.35)
15:75042651	rs140747247	Q>P	A:191	(1.94, 8.47, 38.88)
15:75042657		V>E	A:193	(0.91, 11.21, 32.97)
15:75042669		A>V	A:197	(-3.90, 14.97, 31.98)
15:75042674	rs144697774	V>I	A:199	(-4.80, 19.86, 34.41)
15:75042687		M>T	A:203	(-7.93, 23.72, 31.00)
15:75042692	rs45540640	F>V	A:205	(-11.85, 18.55, 26.59)
15:75042695	rs200836818	G>R	A:206	(-13.90, 19.44, 31.33)
15:75042708	rs202191520	P>L	A:210	(-12.19, 11.02, 29.83)
15:75042713		S>C	A:212	(-11.42, 6.75, 33.55)
15:75042719		D>N	A:214	(-8.15, 2.92, 29.61)
15:75042732		S>N	A:218	(-2.98, 4.56, 26.04)
15:75042737		V>M	A:220	(-1.21, 10.15, 27.76)
15:75042746		T>A	A:223	(3.65, 10.69, 23.80)
15:75042749		H>N	A:224	(6.97, 6.98, 23.11)
15:75042754		E>D	A:225	(4.41, 6.15, 19.86)
15:75042758	rs373580935	V>M	A:227	(8.29, 12.78, 20.33)
15:75042765		T>N	A:229	(8.86, 10.37, 14.52)
15:75042767		A>P	A:230	(8.45, 14.60, 15.36)
15:75042776	rs201537008	G>R	A:233	(16.30, 14.94, 11.25)
15:75042792	rs200571120	F>S	A:238	(15.26, 14.90, 4.91)
15:75042794		F>L	A:239	(16.67, 10.05, 2.78)
15:75042806	rs375045680 COSM1301421 COSM3503976	R>C	A:243	(8.79, 8.05, 2.85)
15:75042807		R>H	A:243	(8.79, 8.05, 2.85)
15:75042825	rs575035489	A>V	A:249	(8.28, 3.78, 14.19)
15:75042848	rs561167723	N>Y	A:257	(-1.25, 10.62, 14.97)
15:75042872		Q>K	A:265	(-12.45, 14.14, 16.23)
15:75042879		T>I	A:267	(-14.05, 14.48, 23.31)
15:75042891		H>R	A:271	(-18.01, 19.62, 24.89)
15:75042893		Y>H	A:272	(-21.87, 20.42, 19.56)
15:75042909		K>T	A:277	(-24.39, 31.16, 23.49)
15:75043539	rs45468096	R>W	A:281	(-18.13, 25.83, 32.61)
15:75043540	rs267604321	R>Q	A:281	(-18.13, 25.83, 32.61)
15:75043542	COSM3503979	D>N	A:282	(-14.21, 24.56, 28.05)
15:75043549	rs368776150 COSM1374564	T>M	A:284	(-13.86, 23.19, 23.36)
15:75043558		L>P	A:287	(-12.75, 27.38, 20.20)
15:75043564		K>R	A:289	(-18.97, 31.65, 21.67)
15:75043567		H>R	A:290	(-14.92, 32.69, 19.21)
15:75043569		S>R	A:291	(-16.97, 29.32, 15.37)
15:75043572		K>Q	A:292	(-21.87, 30.32, 16.75)
15:75043579	COSM964894	G>A	A:294	(-16.86, 34.38, 12.63)
15:75043593	rs35796837	G>S	A:299	(-11.97, 38.70, 4.93)
15:75043594		G>V	A:299	(-11.97, 38.70, 4.93)
15:75043603		I>N	A:302	(-11.65, 30.94, 9.62)
15:75043618		I>T	A:307	(-11.63, 27.21, 14.83)
15:75043623		N>Y	A:309	(-8.50, 21.86, 15.05)
15:75043627		L>H	A:310	(-6.97, 24.93, 17.81)
15:75043638	rs28399418	I>V	A:314	(-3.92, 23.19, 23.39)
15:75044132		S>A	A:327	(9.78, 13.73, 35.24)
15:75044151	rs369659890	L>P	A:333	(15.01, 16.40, 43.19)
15:75044163	COSM3503981 COSM1678588	P>L	A:337	(19.80, 15.05, 47.68)
15:75044169		I>T	A:339	(19.19, 20.51, 45.21)
15:75044173		Q>H	A:340	(15.00, 17.54, 47.53)
15:75044187		K>R	A:345	(15.63, 25.73, 54.35)
15:75044189	rs574824024	E>K	A:346	(12.82, 28.42, 50.08)
15:75044195	rs56276455	D>N	A:348	(9.78, 25.57, 56.27)
15:75044468		T>I	A:349	(11.55, 29.95, 55.69)
15:75044471		V>G	A:350	(8.70, 31.51, 52.96)
15:75044485	rs148157092	R>W	A:355	(0.58, 28.74, 53.37)
15:75044486	rs144076129	R>Q	A:355	(0.58, 28.74, 53.37)
15:75044488	rs147333000	R>W	A:356	(-1.19, 23.11, 50.99)
15:75044489	rs55918015	R>Q	A:356	(-1.19, 23.11, 50.99)
15:75044494		R>W	A:358	(-0.51, 30.86, 47.89)
15:75044495		R>Q	A:358	(-0.51, 30.86, 47.89)
15:75044497		L>I	A:359	(0.99, 31.01, 41.84)
15:75044505	rs574726215	D>E	A:361	(4.18, 32.24, 47.19)
15:75044516		L>R	A:365	(9.93, 30.47, 46.45)
15:75044518		P>S	A:366	(13.84, 32.19, 44.92)
15:75044543		E>V	A:374	(19.36, 24.18, 35.77)
15:75044552	rs72547515 CM057664	R>P	A:377	(20.87, 24.56, 31.51)
15:75044558		S>Y	A:379	(17.44, 19.04, 29.87)
15:75044567		L>W	A:382	(12.61, 21.13, 23.70)
15:75044576		T>N	A:385	(12.74, 24.45, 17.60)
15:75044584	rs557412265	H>Y	A:388	(11.24, 27.38, 11.97)
15:75045526		T>A	A:390	(12.29, 30.51, 4.70)
15:75045532		R>G	A:392	(10.40, 36.53, 2.70)
15:75045542	rs149928755	T>M	A:395	(20.24, 38.04, 3.97)
15:75045583	rs377527644	V>I	A:409	(16.72, 26.22, 16.26)
15:75045584	COSM1517486	V>E	A:409	(16.72, 26.22, 16.26)
15:75045611		P>L	A:418	(30.88, 27.14, 26.21)
15:75047156	rs374433914	E>D	A:426	(27.38, 20.97, 37.07)
15:75047160	rs149710194	R>W	A:428	(25.65, 24.97, 39.12)
15:75047166		E>Q	A:430	(22.78, 27.72, 42.71)
15:75047173	rs201485133	F>S	A:432	(19.56, 30.79, 36.59)
15:75047184	rs144148965	D>N	A:436	(21.24, 38.24, 47.56)
15:75047185		D>G	A:436	(21.24, 38.24, 47.56)
15:75047210	rs140757511	L>F	A:444	(21.31, 34.58, 33.19)
15:75047212		S>N	A:445	(16.87, 33.94, 32.61)
15:75047218	rs566851431	K>M	A:447	(21.42, 34.47, 28.34)
15:75047222	COSM458961	M>I	A:448	(17.17, 29.43, 28.87)
15:75047223		M>L	A:449	(16.11, 29.00, 23.93)
15:75047238		G>S	A:454	(8.89, 34.81, 18.13)
15:75047244	rs367858322	R>C	A:456	(5.65, 29.69, 14.77)
15:75047245	rs72547517	R>H	A:456	(5.65, 29.69, 14.77)
15:75047256	COSM964897	G>R	A:460	(2.34, 28.12, 27.17)
15:75047259		E>K	A:461	(6.30, 30.40, 28.22)
15:75047262	rs199528490	V>L	A:462	(3.07, 31.60, 31.51)
15:75047272		K>T	A:465	(7.14, 28.99, 33.56)
15:75047274		W>R	A:466	(1.92, 31.00, 36.38)
15:75047279		E>D	A:467	(1.40, 23.39, 35.69)
15:75047280		I>L	A:468	(6.13, 23.26, 36.56)
15:75047286		L>V	A:470	(1.70, 24.96, 42.12)
15:75047296		A>D	A:473	(5.55, 23.19, 45.78)
15:75047314		L>P	A:479	(6.52, 14.30, 49.58)
15:75047316		E>Q	A:480	(12.21, 13.10, 50.67)
15:75047325	rs143028942	V>M	A:483	(16.53, 5.98, 45.00)
15:75047332		P>L	A:485	(20.62, 2.87, 48.61)
15:75047335	rs140211191	G>D	A:486	(22.45, 1.54, 44.71)
15:75047337	rs571663822	V>M	A:487	(19.38, 2.30, 42.92)
15:75047346	COSM3503989	D>N	A:490	(20.09, 6.72, 33.05)
15:75047362		Y>C	A:495	(16.46, 13.26, 19.50)
15:75047364		G>R	A:496	(13.34, 14.22, 20.58)
15:75047371		T>N	A:498	(10.18, 15.79, 23.86)
15:75047386		R>H	A:503	(9.82, 4.77, 32.21)
15:75047397		V>L	A:507	(11.12, 6.45, 43.05)
15:75047406	rs138459442	R>W	A:510	(10.65, 10.51, 53.57)
15:75047407	rs374094758	R>L	A:510	(10.65, 10.51, 53.57)
15:75047412	COSM4056915	R>C	A:512	(9.39, 16.07, 55.36)
15:75047413		R>H	A:512	(9.39, 16.07, 55.36)

2HI4.A | CYP1A2.

2HI4.A | CYP1A2

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
15:75042179	COSM122455	R>W	A:34	(21.24, 27.22, -6.73)
15:75042194	COSM3711852	L>V	A:39	(25.10, 37.32, -2.56)
15:75042314	COSM1737262	R>C	A:79	(23.01, 19.29, 1.94)
15:75042327	COSM4675876	T>M	A:83	(17.68, 18.58, 1.82)
15:75042389	COSM701191	D>N	A:104	(11.85, 36.29, 6.84)
15:75042486	COSM243936	R>H	A:136	(-5.65, 28.49, 13.58)
15:75042488	COSM964891	R>W	A:137	(-0.34, 32.00, 17.89)
15:75044488	COSM1374565	R>W	A:356	(-1.19, 23.11, 50.99)
15:75047325	COSM434300	V>M	A:483	(16.53, 5.98, 45.00)