1PKX.D | ATIC – ASTRID

1PKX.D | ATIC

General Structure Information

PDB ID	1pkx
HGNC Gene Label(s)	ATIC
Structure Name	crystal structure of human atic in complex with xmp
Resolution	1.9Å
Reference	AUTH D.W.WOLAN,C.G.CHEONG,S.E.GREASLEY,I.A.WILSONTITL STRUCTURAL INSIGHTS INTO THE HUMAN AND AVIAN IMPTITL 2 CYCLOHYDROLASE MECHANISM VIA CRYSTAL STRUCTURESTITL 3 WITH THE BOUND XMP INHIBITOR.REF BIOCHEMISTRY V. 43 1171 2004REFN ISSN 0006-2960PMID 14756553DOI 10.1021/BI030162I

Variant Set Distributions

ExAC Variants

Number Of Residues	589
Number Of SNVs	191
Number Of Permutations	57466
Optimal Distance Threshold	7.0
K Statistic	0.011
p-value	0.971

COSMIC

Number Of Residues	589
Number Of SNVs	9
Number Of Permutations	4859
Optimal Distance Threshold	39.0
K Statistic	0.611
p-value	0.497

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	191
Number Of COSMIC SNVs	8
Optimal Distance Threshold	12.0
K Statistic	-0.048
p-value	0.431

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:216177236		S>F	D:12	(75.26, 19.22, -14.61)
2:216177240		D>E	D:13	(76.62, 20.43, -10.48)
2:216177243		K>N	D:14	(79.43, 22.78, -13.56)
2:216177245		T>S	D:15	(79.73, 22.77, -7.66)
2:216177248		G>D	D:16	(83.90, 22.60, -7.63)
2:216177253	COSM442283	V>L	D:18	(87.74, 24.84, -10.99)
2:216177254		V>G	D:18	(87.74, 24.84, -10.99)
2:216177281		L>R	D:27	(98.29, 15.53, -8.00)
2:216177307		G>R	D:36	(80.47, 22.97, -20.77)
2:216177329		D>G	D:43	(86.19, 30.36, -19.18)
2:216177340	COSM1016141	A>P	D:47	(94.29, 23.03, -19.21)
2:216177347		R>K	D:49	(93.54, 16.81, -23.90)
2:216182884		V>F	D:51	(86.81, 13.87, -25.94)
2:216182897		T>M	D:55	(88.45, 9.64, -29.81)
2:216182899		G>R	D:56	(89.42, 11.00, -33.18)
2:216182908		E>Q	D:59	(81.47, 15.25, -35.00)
2:216182915		L>S	D:61	(74.38, 12.81, -33.83)
2:216182917	COSM1183922	G>R	D:62	(75.39, 16.59, -31.12)
2:216182923		R>C	D:64	(72.99, 12.07, -29.01)
2:216182924	rs368883626	R>H	D:64	(72.99, 12.07, -29.01)
2:216182931		K>N	D:66	(81.46, 13.23, -27.80)
2:216182945		A>V	D:71	(89.21, 5.53, -25.73)
2:216182950		H>Y	D:73	(84.26, 3.51, -21.90)
2:216182951		H>P	D:73	(84.26, 3.51, -21.90)
2:216182953		A>T	D:74	(89.37, 1.47, -22.14)
2:216184399	rs367615313	R>C	D:79	(91.49, -5.79, -16.03)
2:216184405		I>V	D:81	(95.93, -7.56, -16.40)
2:216184415		D>G	D:84	(94.26, -5.52, -20.20)
2:216184424		D>G	D:87	(95.02, -4.64, -25.40)
2:216184429	rs374183545	A>T	D:89	(99.69, -0.42, -26.20)
2:216184436		L>P	D:91	(94.86, 0.47, -29.27)
2:216184445	rs75086019	N>S	D:94	(96.03, 6.81, -21.18)
2:216184450		I>V	D:96	(90.86, 7.18, -17.32)
2:216184451		I>T	D:96	(90.86, 7.18, -17.32)
2:216189965	rs568677758	V>L	D:98	(89.55, 10.53, -12.18)
2:216189972		A>V	D:100	(83.74, 13.59, -13.02)
2:216189977		N>H	D:102	(76.85, 15.19, -12.36)
2:216189984	rs372823382	Y>C	D:104	(69.12, 18.27, -15.07)
2:216189986		P>S	D:105	(67.73, 16.27, -12.30)
2:216190014		G>D	D:114	(56.04, 22.70, -22.05)
2:216190020	rs2372536	T>S	D:116	(56.76, 17.45, -24.75)
2:216190023	rs375997993	V>A	D:117	(56.63, 13.20, -23.58)
2:216190028		E>K	D:119	(60.50, 17.95, -25.82)
2:216190044		I>T	D:124	(67.05, 10.37, -21.54)
2:216190052		G>C	D:127	(76.71, 8.68, -21.44)
2:216190715		V>I	D:129	(74.86, 6.57, -17.20)
2:216190730	rs566550238	A>T	D:134	(82.34, 2.04, -15.69)
2:216190745	rs555184637	H>Y	D:139	(85.77, -0.26, -7.40)
2:216190773		P>R	D:148	(80.20, 17.70, -5.71)
2:216190776		E>A	D:149	(81.14, 17.13, -1.66)
2:216190779		D>G	D:150	(82.89, 13.69, -2.23)
2:216190791	rs145011610	V>A	D:154	(89.34, 12.87, -3.21)
2:216190797		T>M	D:156	(92.86, 15.53, 1.18)
2:216190800		E>G	D:157	(92.79, 10.38, 0.20)
2:216190812		S>F	D:161	(100.23, 9.74, -0.17)
2:216190826		T>P	D:166	(92.33, 7.13, -3.71)
2:216190833		L>W	D:168	(90.16, 0.21, -2.22)
2:216190838	rs369264258	T>A	D:170	(87.44, 5.92, -0.87)
2:216190845	COSM1183927	R>H	D:172	(85.75, -0.47, -1.49)
2:216190853		A>S	D:175	(80.83, 3.13, -6.28)
2:216190858		L>F	D:176	(77.58, 2.66, -3.15)
2:216191546	rs148147535	A>V	D:178	(77.25, 5.79, -8.54)
2:216191558	COSM1405267 COSM1183920	T>M	D:182	(72.50, 5.13, -11.88)
2:216191561		A>E	D:183	(69.32, 3.67, -9.90)
2:216191566		Y>D	D:185	(68.40, 9.11, -14.59)
2:216191576		A>G	D:188	(62.54, 8.10, -12.78)
2:216191585		D>G	D:191	(57.53, 6.48, -12.81)
2:216191586	rs77239104	D>E	D:191	(57.53, 6.48, -12.81)
2:216191600	rs560962853	Q>R	D:196	(53.18, 9.46, -19.87)
2:216191608	rs140159793	K>E	D:199	(46.87, 6.05, -17.33)
2:216191636	rs149917863	Y>C	D:208	(42.85, 10.64, -1.20)
2:216191639		G>A	D:209	(46.16, 8.77, 0.32)
2:216191643		M>I	D:210	(46.41, 7.21, 4.38)
2:216191647		P>S	D:212	(42.85, 14.06, 1.96)
2:216191659		P>S	D:216	(50.82, 12.86, -5.05)
2:216191671		Y>H	D:220	(54.33, 1.24, -8.66)
2:216191683	rs143941850	P>S	D:224	(53.82, -5.91, -17.70)
2:216197108	rs374163623	L>P	D:231	(35.22, -3.76, -13.63)
2:216197128		I>V	D:238	(42.58, 2.91, 2.58)
2:216197143		A>P	D:243	(41.78, -5.48, -1.02)
2:216197152		A>T	D:246	(41.26, -9.62, 1.74)
2:216197182		A>T	D:256	(42.79, -24.85, 3.05)
2:216197189		G>V	D:258	(37.61, -25.98, -0.49)
2:216197191		I>F	D:259	(34.86, -24.24, 1.26)
2:216197194		P>T	D:260	(33.59, -21.30, -1.03)
2:216197195	COSM3577495	P>L	D:260	(33.59, -21.30, -1.03)
2:216197200	rs150438200	A>T	D:262	(34.54, -14.45, 2.63)
2:216197211		F>L	D:265	(39.12, -6.32, 5.55)
2:216197228		A>G	D:271	(35.19, -7.81, 10.67)
2:216198076		A>V	D:273	(35.54, -14.29, 7.98)
2:216198106		E>A	D:283	(22.74, -19.25, 11.30)
2:216198109		A>V	D:284	(19.87, -16.22, 8.36)
2:216198118		C>Y	D:287	(22.91, -12.65, 8.91)
2:216198120	rs371518493	M>V	D:288	(19.78, -9.32, 8.35)
2:216198127		Y>C	D:290	(14.61, -16.37, 6.48)
2:216198129		D>N	D:291	(14.93, -12.38, 2.64)
2:216198133		L>R	D:292	(17.50, -14.06, 0.18)
2:216198144	rs374860324	L>F	D:296	(21.54, -18.87, 0.04)
2:216198154		I>N	D:299	(30.09, -17.28, -2.05)
2:216198160		A>V	D:301	(27.04, -17.83, 2.88)
2:216198171		R>G	D:305	(28.36, -17.41, 8.18)
2:216199651		R>K	D:311	(25.55, -5.87, 10.48)
2:216199659		S>A	D:314	(30.83, -4.18, 8.28)
2:216199674	rs147114143	V>I	D:319	(34.05, -7.31, -0.15)
2:216199686		D>N	D:323	(34.73, -17.99, -5.72)
2:216199692		C>R	D:325	(29.99, -12.73, -7.77)
2:216199704	rs372016819	T>A	D:329	(26.49, -12.08, -3.17)
2:216199711		K>I	D:331	(20.40, -9.37, -4.75)
2:216199719	rs375398581	S>A	D:334	(22.77, -3.81, -2.93)
2:216200775		I>M	D:342	(38.33, -7.93, -4.61)
2:216200776		A>S	D:343	(36.99, -10.80, -7.25)
2:216200777		A>G	D:343	(36.99, -10.80, -7.25)
2:216200791	COSM1306408	E>Q	D:348	(26.61, -9.90, -17.12)
2:216200795		E>A	D:349	(22.39, -10.27, -12.89)
2:216200804		T>I	D:352	(24.52, -4.63, -13.23)
2:216200812		S>T	D:355	(27.77, -1.02, -10.87)
2:216200815		K>E	D:356	(23.60, 0.65, -10.83)
2:216200823		K>N	D:358	(28.12, 4.43, -3.96)
2:216200830		N>D	D:361	(30.62, 5.84, -8.32)
2:216200834		Y>C	D:362	(30.64, -0.48, -5.29)
2:216200836		C>G	D:363	(34.77, -0.13, -6.14)
2:216200842		L>F	D:365	(38.29, -4.54, -7.90)
2:216203507		D>E	D:368	(44.96, -12.82, -11.62)
2:216203512	rs567816487	S>F	D:370	(47.38, -16.49, -11.27)
2:216203524	rs373091794	D>G	D:374	(57.88, -10.92, -5.79)
2:216203530		N>S	D:376	(61.23, -8.80, -1.03)
2:216203539	rs199518893 COSM274075	R>Q	D:379	(57.35, -1.28, 5.21)
2:216203542	rs111571378	T>I	D:380	(59.15, 3.83, 3.50)
2:216203556		H>Y	D:385	(64.19, 2.37, 2.81)
2:216203562		S>R	D:387	(63.55, -5.34, 3.80)
2:216203583		V>I	D:394	(51.51, -22.55, 5.89)
2:216203586		V>I	D:395	(47.48, -22.22, 7.56)
2:216203603		F>L	D:400	(46.77, -26.60, 13.59)
2:216203604		S>G	D:401	(50.12, -31.63, 14.54)
2:216209508	rs141872658	E>K	D:412	(37.77, -32.79, 10.89)
2:216209511		S>T	D:413	(35.13, -29.10, 13.41)
2:216209521	rs146536943	R>Q	D:416	(35.81, -25.97, 10.47)
2:216209532	rs374326906	V>I	D:420	(39.11, -19.73, 9.93)
2:216209545		A>V	D:424	(42.43, -14.14, 10.31)
2:216209551	rs121434478	K>R	D:426	(48.36, -14.33, 8.12)
2:216209568		S>A	D:432	(45.78, -10.67, 16.96)
2:216209580	rs371283342	A>T	D:436	(35.74, -19.53, 15.78)
2:216209587	rs545143019	N>S	D:438	(29.98, -22.88, 12.57)
2:216209589	rs376292115 COSM1183926	G>R	D:439	(33.44, -21.29, 9.60)
2:216209590	rs367674366	G>A	D:439	(33.44, -21.29, 9.60)
2:216211486		I>T	D:442	(32.44, -15.41, 16.47)
2:216211488	rs201074610	G>S	D:443	(35.68, -12.88, 17.28)
2:216211489		G>A	D:443	(35.68, -12.88, 17.28)
2:216211491		I>F	D:444	(38.40, -10.30, 15.82)
2:216211504		Q>P	D:448	(44.94, -4.17, 21.01)
2:216211519	rs374662430	H>R	D:453	(43.51, -6.23, 27.65)
2:216211525		T>I	D:455	(41.43, -12.48, 24.78)
2:216211527	rs534692502	R>C	D:456	(39.83, -9.70, 28.85)
2:216211528	COSM1016150	R>H	D:456	(39.83, -9.70, 28.85)
2:216211534		A>G	D:458	(37.27, -11.00, 21.28)
2:216211542		K>E	D:461	(33.44, -8.51, 19.38)
2:216211548		N>D	D:463	(29.62, -13.00, 24.06)
2:216211552		Y>C	D:464	(28.14, -8.37, 22.63)
2:216211571	rs147725232	H>Q	D:470	(18.00, -14.68, 23.14)
2:216211572	rs56117859	P>S	D:471	(15.15, -16.25, 21.91)
2:216211578		V>M	D:473	(16.63, -11.20, 19.20)
2:216211585	rs139340343	S>L	D:475	(10.98, -12.43, 18.34)
2:216211588	rs142577585	M>R	D:476	(12.62, -8.52, 17.73)
2:216211605		V>M	D:482	(11.49, -0.24, 9.40)
2:216211612	rs547883640	R>K	D:484	(18.33, -3.98, 6.48)
2:216211614		A>T	D:485	(19.84, -0.01, 9.42)
2:216211627	rs188997281	N>S	D:489	(21.63, 0.00, 14.74)
2:216211632	rs372351595	I>V	D:491	(19.55, -5.78, 17.34)
2:216211633		I>T	D:491	(19.55, -5.78, 17.34)
2:216211635		D>N	D:492	(23.63, -3.99, 17.79)
2:216211644	rs375558113	V>M	D:495	(22.86, -7.11, 22.72)
2:216211657		I>T	D:499	(19.19, 1.51, 24.15)
2:216211660	rs76414987	G>D	D:500	(19.57, 4.38, 26.58)
2:216213841	rs150270007	A>T	D:510	(9.06, 3.27, 18.18)
2:216213848		F>S	D:512	(10.29, -2.72, 18.41)
2:216213860		P>L	D:516	(11.03, -5.66, 23.40)
2:216213868		L>V	D:519	(17.98, -9.35, 28.19)
2:216213876		E>D	D:521	(23.61, -8.72, 32.92)
2:216213887		K>R	D:525	(25.06, -15.20, 31.30)
2:216213888		K>N	D:525	(25.06, -15.20, 31.30)
2:216213900	rs145204733	E>D	D:529	(26.48, -20.56, 30.58)
2:216213905		L>Q	D:531	(28.63, -20.62, 23.29)
2:216213910	rs145563811	E>K	D:533	(31.78, -26.91, 19.73)
2:216213928		D>N	D:539	(49.33, -13.30, 16.89)
2:216213930	rs572957441	D>E	D:539	(49.33, -13.30, 16.89)
2:216213956	rs199572387	V>A	D:548	(42.72, -20.42, 28.98)
2:216213959		D>G	D:549	(40.58, -18.97, 32.42)
2:216213963		R>S	D:550	(37.23, -14.71, 28.51)
2:216213964		A>P	D:551	(38.07, -18.73, 26.65)
2:216214269	rs76436141	A>V	D:557	(37.45, -26.30, 23.22)
2:216214275		I>T	D:559	(43.32, -23.17, 21.94)
2:216214278	rs372018177 COSM4091086	A>V	D:560	(45.77, -21.96, 18.64)
2:216214289	rs149999349	G>S	D:564	(57.42, -19.42, 24.39)
2:216214293		S>C	D:565	(55.99, -18.97, 27.53)
2:216214301	COSM573301	D>H	D:568	(54.33, -22.83, 27.89)
2:216214302		D>G	D:568	(54.33, -22.83, 27.89)
2:216214313		I>V	D:572	(49.65, -27.14, 28.71)
2:216214314	rs149185538	I>T	D:572	(49.65, -27.14, 28.71)
2:216214325	rs200644560	D>N	D:576	(45.01, -30.71, 30.47)
2:216214328		E>K	D:577	(42.10, -27.66, 34.54)
2:216214338		I>T	D:580	(40.65, -26.83, 26.40)
2:216214339	rs202208648	I>M	D:580	(40.65, -26.83, 26.40)
2:216214340		I>V	D:581	(42.29, -29.48, 22.74)
2:216214341		I>N	D:581	(42.29, -29.48, 22.74)
2:216214349		H>Y	D:584	(51.67, -24.99, 21.54)
2:216214350	rs201429123	H>R	D:584	(51.67, -24.99, 21.54)
2:216214353	rs145243313	T>R	D:585	(52.73, -23.22, 16.95)
2:216214364	rs183441739	L>F	D:589	(50.83, -14.85, 12.67)
2:216214371		H>R	D:591	(49.79, -7.78, 9.80)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:216177288	COSM216549	L>F	D:29	(96.38, 14.04, -13.51)
2:216190020	COSM3757936	T>S	D:116	(56.76, 17.45, -24.75)
2:216191614	COSM1016143	V>I	D:201	(48.15, -0.98, -17.58)
2:216197138	COSM1183921	C>Y	D:241	(45.17, -1.65, 1.86)
2:216199668	COSM1614318	D>Y	D:317	(32.50, -3.42, 3.81)
2:216203539	COSM274075	R>Q	D:379	(57.35, -1.28, 5.21)
2:216203554	COSM1405268	L>P	D:384	(64.48, 5.07, 6.56)
2:216211546	COSM1016151	A>V	D:462	(31.45, -13.38, 20.69)
2:216211624	COSM1752320	S>C	D:488	(20.90, -3.47, 12.82)

1PKX.D | ATIC.

1PKX.D | ATIC

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