2FJU.B | PLCB2

General Structure Information

PDB ID	2fju
HGNC Gene Label(s)	PLCB2
Structure Name	activated rac1 bound to its effector phospholipase c beta 2
Resolution	2.2Å
Reference	AUTH M.R.JEZYK,J.T.SNYDER,S.GERSHBERG,D.K.WORTHYLAKE,AUTH 2 T.K.HARDEN,J.SONDEKTITL CRYSTAL STRUCTURE OF RAC1 BOUND TO ITS EFFECTORTITL 2 PHOSPHOLIPASE C-BETA2.REF NAT.STRUCT.MOL.BIOL. V. 13 1135 2006REFN ISSN 1545-9993PMID 17115053DOI 10.1038/NSMB1175

Variant Set Distributions

ExAC Variants

Number Of Residues	696
Number Of SNVs	174
Number Of Permutations	72428
Optimal Distance Threshold	6.0
K Statistic	0.005
p-value	0.595

COSMIC

Number Of Residues	696
Number Of SNVs	4
Number Of Permutations	310
Optimal Distance Threshold	9.0
K Statistic	0.167
p-value	0.163

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	174
Number Of COSMIC SNVs	5
Optimal Distance Threshold	9.0
K Statistic	0.081
p-value	0.236

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
15:40599843		P>A	B:11	(90.17, 95.07, 29.63)
15:40599830	rs372840660	A>D	B:15	(78.68, 101.74, 29.85)
15:40599822		S>G	B:18	(76.37, 97.36, 30.76)
15:40599809		R>H	B:22	(65.75, 98.28, 23.48)
15:40599804		I>L	B:24	(65.06, 92.06, 16.85)
15:40599798	rs374351563	W>R	B:26	(67.77, 86.57, 12.64)
15:40596258	rs543577992	V>F	B:36	(66.21, 91.46, 23.06)
15:40596243		D>N	B:41	(79.25, 91.76, 32.44)
15:40596240		P>S	B:42	(80.17, 94.92, 34.34)
15:40596223		L>F	B:47	(77.04, 88.69, 25.28)
15:40596215	COSM3401701 COSM3401700	T>M	B:50	(66.91, 89.90, 28.37)
15:40596203		K>M	B:54	(61.81, 88.57, 33.28)
15:40595552		M>I	B:56	(68.42, 85.54, 31.13)
15:40595535		T>I	B:62	(85.81, 83.30, 26.08)
15:40595532	rs202154132 COSM961165 COSM961163	S>N	B:63	(83.04, 81.66, 23.25)
15:40595526		R>Q	B:65	(85.82, 81.93, 17.18)
15:40595527	rs374171173	R>W	B:65	(85.82, 81.93, 17.18)
15:40595520		T>I	B:67	(81.95, 90.65, 15.50)
15:40595521		T>A	B:67	(81.95, 90.65, 15.50)
15:40595508	rs537249891 COSM75971	K>M	B:71	(78.43, 94.17, 3.75)
15:40594806		Q>R	B:79	(59.71, 86.31, 2.80)
15:40594797		R>Q	B:82	(63.44, 89.15, 3.37)
15:40594798	rs377506463	R>W	B:82	(63.44, 89.15, 3.37)
15:40594794		D>G	B:83	(58.35, 90.64, 5.23)
15:40594792	rs567578673	V>I	B:84	(59.59, 91.68, 9.93)
15:40594784	rs57020474	N>K	B:86	(60.85, 96.28, 5.29)
15:40594785		N>T	B:86	(60.85, 96.28, 5.29)
15:40594786		N>D	B:86	(60.85, 96.28, 5.29)
15:40594760		F>L	B:94	(68.48, 95.09, 7.49)
15:40594758	rs199647108	L>R	B:95	(72.67, 96.95, 5.86)
15:40594743	COSM335407 COSM335406	T>M	B:100	(76.57, 88.79, 13.59)
15:40594737		V>A	B:102	(80.51, 84.26, 15.60)
15:40594735	rs377094129	S>T	B:103	(80.13, 81.22, 18.53)
15:40594732		G>S	B:104	(82.89, 78.50, 19.21)
15:40594728		P>L	B:105	(84.17, 75.29, 20.05)
15:40594717		D>Y	B:109	(80.85, 73.96, 16.20)
15:40594705		H>Y	B:113	(74.56, 84.31, 18.16)
15:40594692		S>F	B:117	(68.66, 97.40, 15.57)
15:40594686	rs369766701	K>R	B:119	(68.52, 102.67, 17.87)
15:40594677	rs549899180	V>A	B:122	(74.05, 100.68, 17.17)
15:40594550		A>S	B:125	(79.89, 99.63, 18.28)
15:40594535		V>I	B:130	(82.45, 92.84, 21.75)
15:40594507		T>M	B:139	(90.24, 87.79, 28.08)
15:40594501	rs374751358	N>I	B:141	(95.60, 84.54, 29.53)
15:40594499	COSM3956605 COSM3956604	A>T	B:142	(93.19, 85.14, 33.37)
15:40594492		R>P	B:144	(91.07, 79.24, 38.64)
15:40594486	rs201429769	T>I	B:146	(88.86, 85.52, 36.76)
15:40594481	rs371424889	L>M	B:148	(86.67, 80.86, 40.32)
15:40594361		S>C	B:161	(60.65, 84.40, 39.45)
15:40594348		I>M	B:165	(70.25, 81.55, 43.35)
15:40594350		I>V	B:165	(70.25, 81.55, 43.35)
15:40594346	rs150110779	P>L	B:166	(68.33, 78.24, 41.65)
15:40594347	COSM3420272 COSM3420271	P>A	B:166	(68.33, 78.24, 41.65)
15:40594218		F>L	B:174	(79.78, 73.11, 40.86)
15:40594207	rs376517913	R>H	B:178	(73.27, 66.16, 43.74)
15:40594208	rs577044557 COSM3794106 COSM3794105	R>C	B:178	(73.27, 66.16, 43.74)
15:40594201		R>Q	B:180	(81.98, 66.68, 47.40)
15:40594202	rs374092692	R>W	B:180	(81.98, 66.68, 47.40)
15:40594199		V>M	B:181	(77.32, 70.45, 46.31)
15:40594180	rs368426531	A>D	B:187	(78.58, 74.61, 55.55)
15:40594181	rs201088044	A>S	B:187	(78.58, 74.61, 55.55)
15:40594172	rs375056203	L>F	B:190	(73.11, 77.97, 52.24)
15:40591422	rs372937887 COSM1372638 COSM1372637	A>V	B:197	(66.31, 79.29, 46.75)
15:40591423	COSM50247 COSM1678361	A>T	B:197	(66.31, 79.29, 46.75)
15:40591373		M>I	B:213	(87.64, 75.97, 50.56)
15:40591375		M>V	B:213	(87.64, 75.97, 50.56)
15:40591359		R>Q	B:218	(93.87, 73.24, 47.78)
15:40591360		R>W	B:218	(93.87, 73.24, 47.78)
15:40591353		E>G	B:220	(97.35, 70.51, 48.64)
15:40591354	COSM1678360 COSM1678359	E>K	B:220	(97.35, 70.51, 48.64)
15:40591346		D>E	B:222	(97.83, 72.97, 54.37)
15:40591141		M>I	B:236	(102.26, 82.54, 56.87)
15:40591131		H>D	B:240	(107.07, 83.37, 57.67)
15:40591119	rs148241546	F>L	B:244	(106.21, 81.39, 49.40)
15:40591115	rs369026214	I>T	B:245	(107.15, 85.60, 47.49)
15:40591107	rs375774506	K>E	B:248	(109.35, 78.46, 46.48)
15:40591101	rs371752390	R>W	B:250	(113.44, 85.32, 43.13)
15:40591038		I>L	B:271	(98.02, 89.70, 53.84)
15:40591035	rs566766494 COSM961147 COSM961145	D>Y	B:272	(95.44, 93.39, 53.51)
15:40591031	rs547170555	K>M	B:273	(93.95, 91.44, 47.77)
15:40590898	rs370526234	P>S	B:288	(95.40, 78.53, 54.62)
15:40590876		L>P	B:295	(98.47, 80.95, 44.91)
15:40590877		L>F	B:295	(98.47, 80.95, 44.91)
15:40590868		P>S	B:298	(96.52, 88.38, 39.51)
15:40590857		S>R	B:301	(101.21, 84.60, 36.39)
15:40590842	rs372818214	D>E	B:306	(105.29, 90.29, 28.44)
15:40590821	rs376178296	D>E	B:313	(111.85, 92.74, 15.19)
15:40590816	rs143144314	T>M	B:315	(112.11, 94.83, 10.93)
15:40590811	rs372976059	P>S	B:317	(113.61, 89.35, 6.69)
15:40590804	COSM4054316 COSM4054315	N>S	B:319	(112.76, 84.40, 5.31)
15:40590786		S>L	B:325	(100.16, 77.97, 8.02)
15:40590780		H>R	B:327	(96.20, 71.98, 3.74)
15:40590557	rs201305253 COSM3987924 COSM3987923	S>L	B:341	(83.47, 76.99, 3.53)
15:40590533		L>P	B:349	(92.33, 84.95, 8.69)
15:40590518		R>H	B:354	(98.21, 85.88, 8.43)
15:40590519	COSM1262356 COSM1262355	R>C	B:354	(98.21, 85.88, 8.43)
15:40590513	rs190513619	V>M	B:356	(95.55, 80.75, 3.04)
15:40590474		E>K	B:369	(82.30, 81.83, -12.26)
15:40590425		K>R	B:385	(83.36, 86.23, -5.89)
15:40590153		I>T	B:388	(88.37, 86.61, -2.55)
15:40590144		I>T	B:391	(90.18, 86.59, 2.36)
15:40590138		E>G	B:393	(85.43, 90.21, 6.14)
15:40590099	COSM3420268 COSM3420267	S>L	B:406	(98.41, 79.24, -1.80)
15:40590095		F>L	B:407	(96.33, 80.95, -5.73)
15:40590078		S>L	B:413	(90.77, 79.43, -18.70)
15:40589804	rs564008412	P>L	B:414	(92.24, 82.19, -20.40)
15:40589802	rs373399032	R>C	B:415	(86.53, 83.82, -20.05)
15:40589771	rs200216697 COSM1188955 COSM1188954	R>Q	B:425	(93.91, 93.67, -9.60)
15:40589772	rs369261333	R>W	B:425	(93.91, 93.67, -9.60)
15:40589768	rs376098433	T>M	B:426	(88.22, 94.39, -7.46)
15:40589757	rs267604176	D>N	B:430	(94.65, 99.53, -1.93)
15:40589742	rs186064001	E>K	B:435	(103.57, 96.59, -8.44)
15:40589739		P>T	B:436	(107.37, 95.28, -6.62)
15:40589735		L>P	B:437	(108.35, 97.21, -2.41)
15:40589724	COSM3500837 COSM3500836	P>S	B:441	(114.32, 94.73, -5.99)
15:40589103	rs371654774	P>S	B:444	(119.53, 88.40, -7.69)
15:40589099	rs367879512	G>D	B:445	(120.48, 89.24, -3.34)
15:40589090		L>P	B:448	(112.25, 88.93, 1.34)
15:40589055		I>L	B:460	(99.11, 86.27, -4.97)
15:40588766	rs374751493	G>E	B:515	(98.71, 70.74, -16.59)
15:40588755	COSM3500829 COSM3500828	E>K	B:519	(91.24, 59.44, -13.80)
15:40588735		M>I	B:525	(100.11, 62.35, -7.44)
15:40588730		S>L	B:527	(100.02, 59.14, -1.78)
15:40588590		T>S	B:531	(95.96, 68.04, -6.64)
15:40588586		A>V	B:532	(99.70, 69.78, -6.03)
15:40588574		V>A	B:536	(97.71, 75.13, -14.99)
15:40588571		T>M	B:537	(100.04, 77.63, -17.47)
15:40588568		A>D	B:538	(100.25, 81.11, -15.91)
15:40588554		S>A	B:543	(101.52, 86.34, -13.69)
15:40588541	rs376098838	N>S	B:547	(105.55, 89.52, -6.07)
15:40588523		K>T	B:553	(109.51, 71.41, -9.39)
15:40588518	rs370423429	V>I	B:555	(115.96, 71.09, -8.37)
15:40588511	rs138547741	F>Y	B:557	(118.78, 72.48, -1.07)
15:40588497		Q>K	B:562	(123.21, 79.40, -8.75)
15:40587472		Y>H	B:567	(112.48, 86.20, -6.02)
15:40587457		F>I	B:572	(108.98, 70.76, 0.08)
15:40587438		Y>C	B:578	(111.79, 62.63, 7.27)
15:40587426		S>F	B:582	(117.66, 62.46, 5.60)
15:40587417		S>L	B:585	(120.31, 68.77, 6.98)
15:40587411		Q>R	B:587	(122.01, 71.51, 2.76)
15:40587253		K>R	B:593	(119.31, 81.32, 6.83)
15:40587250	rs8025153	R>H	B:594	(118.46, 81.75, 0.42)
15:40587251	rs61755438	R>C	B:594	(118.46, 81.75, 0.42)
15:40587243		M>I	B:596	(109.99, 81.06, 2.07)
15:40587239		R>C	B:598	(103.52, 75.37, 1.88)
15:40587217	rs376425228	R>H	B:605	(97.62, 62.62, 6.86)
15:40587215		M>V	B:606	(91.85, 60.96, 2.84)
15:40587206		S>P	B:609	(95.39, 64.21, 9.82)
15:40587197		M>V	B:612	(103.96, 66.82, 14.94)
15:40587186	COSM961135 COSM961133	M>I	B:615	(111.08, 67.99, 12.14)
15:40587188		M>V	B:615	(111.08, 67.99, 12.14)
15:40587178		N>I	B:618	(113.63, 72.58, 14.38)
15:40587172		G>V	B:620	(113.15, 76.92, 9.23)
15:40587142	COSM3969082 COSM3969081	T>M	B:630	(91.92, 68.77, 12.68)
15:40587138	rs184388451	M>I	B:631	(92.28, 70.89, 16.96)
15:40587139	rs373270868	M>T	B:631	(92.28, 70.89, 16.96)
15:40586595		V>I	B:641	(102.90, 78.71, 19.49)
15:40586580		G>R	B:646	(99.60, 88.94, 19.25)
15:40586571	COSM1517037 COSM1517036	G>S	B:649	(101.38, 85.01, 12.85)
15:40586565		L>V	B:651	(106.74, 83.71, 15.60)
15:40586558		K>R	B:653	(113.40, 82.42, 12.70)
15:40586546	COSM554912 COSM554911	M>T	B:657	(117.36, 80.09, 12.66)
15:40586543	rs538647274	R>H	B:658	(117.75, 85.77, 12.31)
15:40586544		R>C	B:658	(117.75, 85.77, 12.31)
15:40586541		R>W	B:659	(123.12, 85.94, 13.68)
15:40586538		P>S	B:660	(124.43, 85.58, 8.15)
15:40586483		T>N	B:678	(117.65, 75.60, 30.74)
15:40586468	rs200020289	T>M	B:683	(105.49, 69.12, 40.32)
15:40585922		I>V	B:685	(100.61, 69.09, 43.11)
15:40585916		G>R	B:687	(93.18, 69.22, 40.84)
15:40585897	rs548866418	R>H	B:693	(82.36, 62.41, 33.56)
15:40585898	COSM961132 COSM961130	R>C	B:693	(82.36, 62.41, 33.56)
15:40585892	rs370834459	V>M	B:695	(86.60, 60.27, 36.20)
15:40585882	rs201519816	Y>C	B:698	(95.74, 60.60, 32.21)
15:40585874		V>M	B:701	(104.35, 66.27, 30.84)
15:40585837	COSM3370156 COSM3370155	R>H	B:713	(106.82, 60.80, 26.44)
15:40585831	COSM3815961 COSM3815960	R>Q	B:715	(100.82, 58.74, 31.31)
15:40585777		P>L	B:733	(109.75, 65.98, 40.20)
15:40585766		E>K	B:737	(118.06, 67.47, 32.29)
15:40585225		I>T	B:739	(116.23, 73.13, 27.59)
15:40585217	rs369138015	P>S	B:742	(114.49, 78.20, 25.58)
15:40585214		E>K	B:743	(113.29, 81.23, 21.39)
15:40585207	rs371989767	A>V	B:745	(110.68, 75.27, 23.37)
15:40585196		V>M	B:749	(100.41, 70.21, 30.51)
15:40585190		V>M	B:751	(94.24, 66.76, 31.59)
15:40585186		M>K	B:752	(93.75, 63.11, 29.89)
15:40585171		K>T	B:757	(87.64, 62.51, 27.26)
15:40585169		F>L	B:758	(91.34, 66.99, 25.96)
15:40585160		H>Y	B:761	(96.00, 72.06, 26.49)
15:40585157		R>G	B:762	(98.25, 75.91, 29.07)
15:40584641	rs202225285	Y>C	B:773	(104.10, 76.41, 44.66)
15:40584616		E>D	B:781	(91.23, 70.69, 22.00)
15:40584606		P>S	B:785	(89.46, 79.68, 27.63)
15:40584590		A>V	B:790	(92.71, 73.31, 37.13)
15:40584591		A>T	B:790	(92.71, 73.31, 37.13)
15:40584577		F>L	B:794	(106.99, 73.98, 42.10)
15:40584573		E>K	B:796	(112.66, 74.52, 39.78)

2FJU.B | PLCB2.

2FJU.B | PLCB2

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
15:40594504	COSM3690371	A>V	B:140	(92.18, 84.19, 28.06)
15:40591423	COSM1678361	A>T	B:197	(66.31, 79.29, 46.75)
15:40590504	COSM3667772	D>Y	B:359	(92.47, 74.26, -4.44)
15:40588587	COSM306106	A>S	B:532	(99.70, 69.78, -6.03)
15:40587142	COSM3969082	T>M	B:630	(91.92, 68.77, 12.68)
15:40585181	COSM3886900	E>K	B:754	(90.36, 56.01, 33.20)