4DL3.A | POLH – ASTRID

4DL3.A | POLH

General Structure Information

PDB ID	4dl3
HGNC Gene Label(s)	POLH
Structure Name	human dna polymerase eta inserting dcmpnpp opposite gg template (gg0b).
Resolution	2.1Å
Reference	AUTH Y.ZHAO,C.BIERTUMPFEL,M.T.GREGORY,Y.J.HUA,F.HANAOKA,W.YANGTITL STRUCTURAL BASIS FOR CHEMORESISTANCE TO CISPLATIN MEDIATEDTITL 2 BY DNA POLYMERASE ETAREF PROC.NATL.ACAD.SCI.USA V. 109 7269 2012REFN ISSN 0027-8424PMID 22529383DOI 10.1073/PNAS.1202681109

Variant Set Distributions

ExAC Variants

Number Of Residues	427
Number Of SNVs	109
Number Of Permutations	27224
Optimal Distance Threshold	25.0
K Statistic	0.357
p-value	0.364

COSMIC

Number Of Residues	427
Number Of SNVs	6
Number Of Permutations	708
Optimal Distance Threshold	19.0
K Statistic	0.067
p-value	0.578

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	109
Number Of COSMIC SNVs	6
Optimal Distance Threshold	35.0
K Statistic	0.297
p-value	0.538

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:43550081		V>F	A:9	(61.30, -10.10, -5.76)
6:43550087		L>V	A:11	(58.27, -4.45, -1.55)
6:43550096	rs61748656	M>V	A:14	(57.12, 4.75, 0.94)
6:43550103		C>Y	A:16	(55.16, 7.47, 6.83)
6:43550106	rs551454266	F>S	A:17	(53.53, 8.26, 1.25)
6:43550135		P>S	A:27	(58.84, 22.24, 6.63)
6:43550136	rs376606785 COSM3366531	P>L	A:27	(58.84, 22.24, 6.63)
6:43550141		L>M	A:29	(55.30, 18.67, 10.03)
6:43550146	rs368375817	R>S	A:30	(60.55, 18.50, 7.49)
6:43550153		P>S	A:33	(55.48, 14.36, 16.57)
6:43550160	rs569809153	A>V	A:35	(49.51, 12.93, 11.80)
6:43550172		Y>C	A:39	(36.35, 13.53, 7.19)
6:43550182	rs374515054	W>C	A:42	(32.82, 12.23, 15.13)
6:43550189		G>S	A:45	(39.75, 12.80, 13.37)
6:43550751		A>S	A:49	(49.06, 8.61, 9.14)
6:43550770		R>H	A:55	(54.55, 4.98, 14.40)
6:43550779	COSM3366532	G>V	A:58	(51.17, 5.14, 20.42)
6:43550781		V>I	A:59	(50.02, 7.19, 17.77)
6:43550788		R>K	A:61	(46.55, 2.81, 10.90)
6:43550794		M>T	A:63	(43.85, 6.69, 17.02)
6:43550816	rs149295738	K>N	A:70	(44.22, 11.89, 25.02)
6:43550820		C>R	A:72	(50.83, 13.14, 21.74)
6:43550823		P>T	A:73	(50.43, 16.24, 23.74)
6:43550838	rs372613817	A>T	A:78	(47.76, 16.82, 8.51)
6:43550847	rs113074920	R>C	A:81	(42.52, 18.36, -0.95)
6:43550848	rs370219191	R>H	A:81	(42.52, 18.36, -0.95)
6:43550852	rs77759052	E>D	A:82	(37.44, 18.51, 2.63)
6:43550854		S>F	A:83	(36.87, 18.28, -2.15)
6:43550856		R>C	A:84	(33.85, 18.29, -4.86)
6:43550857	rs565487114	R>H	A:84	(33.85, 18.29, -4.86)
6:43555010		Y>H	A:92	(48.14, 12.08, -0.26)
6:43555013	rs540142982 COSM1079642	R>W	A:93	(45.54, 9.36, -5.69)
6:43555014		R>P	A:93	(45.54, 9.36, -5.69)
6:43555032		V>A	A:99	(57.61, 6.76, -6.28)
6:43555050		R>H	A:105	(64.04, 5.36, -13.72)
6:43555055	rs370592983	A>P	A:107	(61.84, -2.21, -13.48)
6:43555056		A>G	A:107	(61.84, -2.21, -13.48)
6:43555062		I>T	A:109	(56.40, -1.56, -11.41)
6:43555067	rs375000061	R>C	A:111	(49.63, 0.72, -7.61)
6:43555068		R>H	A:111	(49.63, 0.72, -7.61)
6:43555091	rs138298839	V>I	A:119	(60.35, -5.04, -8.39)
6:43555092		V>A	A:119	(60.35, -5.04, -8.39)
6:43555104		S>N	A:123	(66.64, -9.38, -15.76)
6:43555118		R>G	A:128	(74.53, -4.71, -11.85)
6:43555145		I>V	A:137	(79.54, -7.48, -3.51)
6:43555149	rs142827517	S>L	A:138	(81.19, -3.86, -1.09)
6:43555182		G>E	A:149	(69.70, -13.93, 10.73)
6:43555194	rs367709714 COSM1568344 COSM13899	G>D	A:153	(77.09, -16.72, 16.49)
6:43555215		T>S	A:160	(78.09, -4.38, 19.11)
6:43565442	rs201365711 COSM188775	R>Q	A:167	(73.91, -3.18, 9.04)
6:43565451		G>V	A:170	(75.72, -9.50, 9.18)
6:43565456		F>L	A:172	(80.83, -7.39, 7.14)
6:43565481		I>T	A:180	(81.77, -13.64, -6.16)
6:43565484		D>V	A:181	(82.40, -17.54, -8.72)
6:43565486		N>H	A:182	(78.12, -18.99, -9.09)
6:43565498		P>S	A:186	(70.54, -17.93, -5.32)
6:43565516		V>M	A:192	(72.97, -8.02, -6.95)
6:43565520		G>E	A:193	(69.43, -6.75, -5.74)
6:43565552		I>V	A:204	(63.02, 7.24, -4.31)
6:43565554		I>M	A:204	(63.02, 7.24, -4.31)
6:43565558		R>G	A:206	(68.05, 12.72, -6.07)
6:43565568	rs2307456	G>V	A:209	(62.22, 13.07, -0.22)
6:43565576		C>R	A:212	(61.97, 3.92, 1.49)
6:43565579		S>T	A:213	(61.56, 0.55, 3.08)
6:43565580		S>L	A:213	(61.56, 0.55, 3.08)
6:43565594	rs200691612	H>N	A:218	(63.96, -15.66, -4.12)
6:43565598		N>S	A:219	(58.80, -14.47, -2.97)
6:43568725	rs559506859	V>L	A:221	(55.16, -13.00, 0.52)
6:43568735		K>T	A:224	(55.51, -6.95, 2.28)
6:43568738		L>Q	A:225	(57.72, -10.35, 5.75)
6:43568743		C>R	A:227	(60.03, -4.40, 4.18)
6:43568744	rs548691073	C>Y	A:227	(60.03, -4.40, 4.18)
6:43568762	rs61756403	N>S	A:233	(65.60, 4.56, 6.04)
6:43568764		R>C	A:234	(67.33, 1.32, 7.16)
6:43568779		S>P	A:239	(67.25, -15.84, 2.50)
6:43568783	rs370185041	H>R	A:240	(65.35, -20.54, 0.67)
6:43568800		L>F	A:246	(61.62, -15.91, 9.70)
6:43568805	rs571127888	F>L	A:247	(58.24, -18.49, 8.09)
6:43568814	rs373892236	M>I	A:250	(56.23, -15.44, 11.74)
6:43568821	rs538518658 COSM1741760	R>C	A:253	(48.91, -12.39, 12.70)
6:43568827		I>F	A:255	(51.86, -14.07, 5.82)
6:43571630		R>C	A:256	(49.62, -9.99, 1.00)
6:43571631		R>H	A:256	(49.62, -9.99, 1.00)
6:43571654		A>P	A:264	(41.88, -17.95, 11.41)
6:43571664		I>T	A:267	(45.23, -20.61, 13.45)
6:43571679	rs147712217	I>T	A:272	(48.97, -23.82, 13.89)
6:43571687		M>L	A:275	(53.84, -19.92, 8.52)
6:43571704		Q>H	A:280	(53.28, -30.15, 10.28)
6:43571715		S>F	A:284	(46.28, -32.89, 0.21)
6:43572354	rs200149644	S>F	A:296	(48.91, -25.29, -3.01)
6:43572363		Y>C	A:299	(53.34, -27.81, 0.63)
6:43572369	rs371652391	M>T	A:301	(54.65, -19.59, 1.30)
6:43572375		R>Q	A:303	(57.71, -25.72, 2.30)
6:43572386	rs559583064	H>D	A:307	(55.04, -19.99, -7.82)
6:43572395		V>F	A:310	(55.69, -9.08, -10.71)
6:43572398		K>Q	A:311	(51.23, -8.78, -11.90)
6:43572423		I>T	A:319	(39.28, 5.57, -11.17)
6:43572429		C>Y	A:321	(34.64, 7.82, -5.80)
6:43572453	rs35675573	T>I	A:329	(24.83, 11.28, 8.49)
6:43572464		T>A	A:333	(16.52, 12.82, 0.92)
6:43572468		R>Q	A:334	(14.85, 12.66, -4.63)
6:43573011		Q>H	A:343	(29.45, 16.27, -5.38)
6:43573020		Q>H	A:346	(31.65, 16.83, -9.93)
6:43578328	COSM1079648	R>H	A:371	(26.06, 0.12, 3.90)
6:43578337		G>E	A:374	(21.71, -2.22, 8.89)
6:43578346		R>H	A:377	(25.81, -6.30, 3.06)
6:43578348	rs61076173	L>F	A:378	(30.75, -3.52, 3.00)
6:43578353		S>R	A:379	(27.46, -3.43, -0.27)
6:43578360	rs552285614	R>C	A:382	(27.98, -4.15, -8.11)
6:43578363	rs551944293 COSM1444756	R>C	A:383	(23.26, -3.07, -9.20)
6:43578364		R>H	A:383	(23.26, -3.07, -9.20)
6:43578381		R>C	A:389	(28.91, 11.39, -22.49)
6:43578382	rs564211260	R>H	A:389	(28.91, 11.39, -22.49)
6:43578397	rs149030396	K>R	A:394	(25.48, 10.77, -18.07)
6:43578399		M>V	A:395	(28.49, 9.85, -14.46)
6:43578408	COSM3777699	D>Y	A:398	(23.26, 7.28, -15.28)
6:43578448		I>N	A:411	(6.85, 9.48, -0.67)
6:43578450	rs143209023	Q>K	A:412	(9.26, 9.59, -5.11)
6:43581413		M>V	A:421	(27.82, 3.67, 0.98)
6:43581415		M>I	A:421	(27.82, 3.67, 0.98)
6:43581419		F>L	A:423	(31.77, 3.08, -4.76)
6:43581422	rs185710017	L>F	A:424	(30.76, 6.19, -7.96)
6:43581423		L>P	A:424	(30.76, 6.19, -7.96)
6:43581438	rs151215715	F>S	A:429	(39.84, 1.79, -17.80)

4DL3.A | POLH.

4DL3.A | POLH

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
6:43550847	COSM3921849	R>C	A:81	(42.52, 18.36, -0.95)
6:43555070	COSM1672447	A>T	A:112	(50.28, -2.75, -4.59)
6:43555194	COSM1568344	G>V	A:153	(77.09, -16.72, 16.49)
6:43568821	COSM1741760	R>C	A:253	(48.91, -12.39, 12.70)
6:43578345	COSM1221466	R>C	A:377	(25.81, -6.30, 3.06)
6:43578363	COSM1444756	R>C	A:383	(23.26, -3.07, -9.20)
6:43578395	COSM3381609	H>Q	A:393	(25.58, 16.68, -14.26)