3SAG.B | EXOSC10

General Structure Information

PDB ID	3sag
HGNC Gene Label(s)	EXOSC10
Structure Name	crystal structure of the human rrp6 catalytic domain with d313n mutation in the active site
Resolution	2.7Å
Reference	AUTH K.JANUSZYK,Q.LIU,C.D.LIMATITL ACTIVITIES OF HUMAN RRP6 AND STRUCTURE OF THE HUMAN RRP6TITL 2 CATALYTIC DOMAIN.REF RNA V. 17 1566 2011REFN ISSN 1355-8382PMID 21705430DOI 10.1261/RNA.2763111

Variant Set Distributions

ExAC Variants

Number Of Residues	379
Number Of SNVs	100
Number Of Permutations	28468
Optimal Distance Threshold	10.0
K Statistic	0.038
p-value	0.233

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:11151175		I>T	B:180	(48.25, 48.98, 7.77)
1:11151169		R>Q	B:182	(54.41, 50.13, 11.55)
1:11151161		L>F	B:185	(55.44, 54.97, 12.34)
1:11151157		K>R	B:186	(51.15, 58.50, 14.37)
1:11151153		F>L	B:187	(52.91, 56.59, 18.76)
1:11151151		R>Q	B:188	(52.04, 61.07, 21.24)
1:11151131		N>H	B:195	(68.16, 44.87, 26.69)
1:11151118		L>P	B:199	(60.83, 53.07, 34.30)
1:11151109	rs201992382	I>S	B:202	(53.28, 56.64, 36.83)
1:11151099		K>N	B:205	(49.98, 57.82, 43.05)
1:11151097	rs139549494	P>H	B:206	(46.00, 58.95, 41.53)
1:11151098		P>T	B:206	(46.00, 58.95, 41.53)
1:11151092		A>S	B:208	(47.47, 57.91, 47.29)
1:11151077		P>T	B:213	(58.48, 57.94, 43.63)
1:11150716		K>R	B:218	(55.71, 66.03, 36.08)
1:11150612		M>V	B:253	(62.56, 54.09, 40.00)
1:11148250		A>G	B:255	(58.19, 49.48, 42.07)
1:11148238	rs142336238	Q>L	B:259	(52.84, 47.04, 46.02)
1:11148226		N>T	B:263	(49.33, 45.05, 49.72)
1:11148200	rs573868496	L>I	B:272	(30.77, 41.18, 50.09)
1:11148185		P>S	B:277	(20.49, 41.33, 39.95)
1:11148180	rs376685578 COSM1579416	Q>H	B:278	(21.26, 46.07, 36.83)
1:11147964		Y>H	B:280	(21.66, 42.28, 29.54)
1:11147957	rs144984094	P>R	B:282	(18.98, 46.62, 25.84)
1:11147951		E>G	B:284	(18.38, 47.76, 20.31)
1:11147952		E>Q	B:284	(18.38, 47.76, 20.31)
1:11147948		E>G	B:285	(17.54, 50.20, 24.16)
1:11147940		C>R	B:288	(28.05, 53.71, 21.21)
1:11147929		I>M	B:291	(36.65, 58.12, 22.99)
1:11147924		S>F	B:293	(39.60, 63.04, 22.39)
1:11147919		D>N	B:295	(38.56, 67.03, 26.03)
1:11147900	rs143526730	N>S	B:301	(37.34, 59.70, 34.28)
1:11147898	COSM1205841	E>Q	B:302	(34.07, 63.15, 35.82)
1:11147875		E>D	B:309	(30.00, 49.14, 39.05)
1:11147868		V>I	B:312	(37.54, 46.81, 31.40)
1:11147638		Y>S	B:319	(53.30, 39.75, 13.01)
1:11147632	rs184017872	S>T	B:321	(55.28, 44.78, 17.71)
1:11147608		M>T	B:329	(40.16, 50.61, 26.29)
1:11147597		T>A	B:333	(28.55, 51.74, 32.14)
1:11147594		R>W	B:334	(25.33, 48.62, 35.35)
1:11147590		T>M	B:335	(23.97, 52.97, 30.99)
1:11147584		D>A	B:337	(28.81, 50.78, 25.66)
1:11147585		D>H	B:337	(28.81, 50.78, 25.66)
1:11147570		T>A	B:342	(44.58, 53.42, 22.66)
1:11147555		S>G	B:347	(49.64, 60.06, 25.83)
1:11147548		M>T	B:349	(44.98, 56.59, 28.42)
1:11147549	rs146890007	M>V	B:349	(44.98, 56.59, 28.42)
1:11147545		Y>C	B:350	(47.63, 60.40, 32.20)
1:11147536	rs377044377	N>S	B:353	(45.05, 55.86, 36.94)
1:11147532		E>D	B:354	(41.59, 59.94, 38.04)
1:11147528		L>V	B:356	(41.39, 52.23, 36.69)
1:11147513	rs368046763	I>V	B:361	(35.17, 52.28, 41.67)
1:11147510		V>I	B:362	(34.38, 47.57, 41.13)
1:11142928		H>R	B:366	(37.08, 37.20, 31.42)
1:11142889		F>S	B:379	(48.47, 53.09, 28.29)
1:11142882		L>F	B:381	(47.09, 52.68, 33.37)
1:11142844	rs201756050	R>L	B:394	(39.51, 29.11, 39.60)
1:11142845		R>C	B:394	(39.51, 29.11, 39.60)
1:11142839		L>F	B:396	(31.87, 28.97, 40.94)
1:11142829		G>D	B:399	(33.43, 23.80, 33.34)
1:11142821	COSM1332574	S>P	B:402	(35.05, 31.02, 28.86)
1:11142790		N>T	B:412	(20.95, 32.67, 27.06)
1:11142788	rs369723144	V>M	B:413	(24.34, 35.38, 24.78)
1:11142779		N>D	B:416	(30.52, 37.51, 17.94)
1:11142745	rs140464927	R>H	B:427	(41.85, 52.54, 13.07)
1:11141293		P>H	B:428	(38.32, 53.30, 9.66)
1:11141284	rs556624471	E>G	B:431	(28.95, 48.40, 12.64)
1:11141285	COSM3975873 COSM3975874	E>K	B:431	(28.95, 48.40, 12.64)
1:11141269		Y>C	B:436	(34.19, 41.14, 18.87)
1:11141267		A>T	B:437	(33.95, 45.21, 21.19)
1:11141263		R>Q	B:438	(29.02, 47.39, 22.30)
1:11141264	COSM893727	R>W	B:438	(29.02, 47.39, 22.30)
1:11141239		Y>C	B:446	(23.66, 40.00, 34.41)
1:11141237	rs145081029	I>F	B:447	(28.47, 38.12, 34.37)
1:11141228	rs199509210	K>Q	B:450	(23.83, 36.07, 37.90)
1:11141203	COSM893726	R>H	B:458	(27.06, 27.12, 44.77)
1:11141201		G>S	B:459	(26.01, 28.58, 50.37)
1:11141195	rs202000536	G>R	B:461	(25.62, 32.83, 53.65)
1:11141186		V>M	B:464	(34.75, 33.61, 52.12)
1:11141161		R>Q	B:472	(43.02, 34.21, 43.85)
1:11141162		R>W	B:472	(43.02, 34.21, 43.85)
1:11141158		S>N	B:473	(41.90, 39.70, 41.42)
1:11141150	rs374682325	I>F	B:476	(45.96, 39.75, 38.58)
1:11141146		C>S	B:477	(46.66, 44.00, 39.93)
1:11140953	rs533030799	I>T	B:485	(64.96, 38.44, 28.16)
1:11140954	rs567990526	I>V	B:485	(64.96, 38.44, 28.16)
1:11140947	COSM4020568 COSM4020569	T>M	B:487	(67.43, 32.83, 25.60)
1:11140933		L>V	B:492	(69.62, 25.00, 21.75)
1:11140924	rs369140332	Y>H	B:495	(67.06, 21.83, 18.62)
1:11140921		R>W	B:496	(70.32, 20.43, 23.88)
1:11140918		K>E	B:497	(65.87, 17.00, 24.64)
1:11140897		T>A	B:504	(80.73, 24.94, 17.00)
1:11140893	rs200988527	Q>R	B:505	(80.87, 26.04, 12.45)
1:11140884		T>I	B:508	(77.91, 30.16, 16.56)
1:11140882		A>T	B:509	(75.23, 30.71, 13.80)
1:11140857		R>K	B:517	(65.36, 37.08, 15.69)
1:11140851	rs544135616	K>I	B:519	(70.09, 44.30, 16.60)
1:11139876		E>D	B:547	(77.98, 32.93, -0.64)
1:11139869		G>C	B:550	(71.85, 30.83, 0.88)
1:11139841	rs371005817	P>L	B:559	(62.00, 37.90, 5.08)
1:11139842		P>T	B:559	(62.00, 37.90, 5.08)
1:11139836		L>I	B:561	(64.22, 42.83, 7.50)
1:11139833	rs550162161	V>L	B:562	(66.40, 38.74, 5.43)
1:11139829		R>Q	B:563	(65.59, 40.04, 0.13)
1:11139830	COSM893725	R>W	B:563	(65.59, 40.04, 0.13)
1:11139819		I>M	B:566	(71.43, 39.63, 3.02)
1:11139815		E>K	B:568	(74.07, 42.55, 8.87)
1:11139787		R>Q	B:577	(82.04, 28.94, 7.30)
1:11139782		M>L	B:579	(84.28, 29.00, 15.05)
1:11139779		P>S	B:580	(86.86, 26.25, 16.10)
1:11137708		S>P	B:584	(83.73, 15.23, 18.05)