2IAG.A | PTGIS

General Structure Information

PDB ID	2iag
HGNC Gene Label(s)	PTGIS
Structure Name	crystal structure of human prostacyclin synthase
Resolution	2.15Å
Reference	AUTH C.-W.CHIANG,H.-C.YEH,L.-H.WANG,N.-L.CHANTITL CRYSTAL STRUCTURE OF THE HUMAN PROSTACYCLINTITL 2 SYNTHASEREF J.MOL.BIOL. V. 364 266 2006REFN ISSN 0022-2836PMID 17020766DOI 10.1016/J.JMB.2006.09.039

Variant Set Distributions

ExAC Variants

Number Of Residues	470
Number Of SNVs	136
Number Of Permutations	54124
Optimal Distance Threshold	7.0
K Statistic	0.017
p-value	0.982

COSMIC

Number Of Residues	470
Number Of SNVs	12
Number Of Permutations	12452
Optimal Distance Threshold	31.0
K Statistic	0.379
p-value	0.111

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	136
Number Of COSMIC SNVs	11
Optimal Distance Threshold	32.0
K Statistic	-0.224
p-value	0.076

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
20:48166713	COSM1740653	P>S	A:30	(82.49, 39.97, 19.17)
20:48166700		L>P	A:34	(75.60, 46.84, 11.71)
20:48166689	rs572235449	P>A	A:38	(71.58, 53.83, 8.67)
20:48166673	COSM3547599	A>D	A:43	(67.00, 51.92, 18.39)
20:48166668		D>Y	A:45	(63.77, 47.29, 17.91)
20:48166645		S>R	A:52	(61.91, 40.77, 23.08)
20:48166644	rs148875055	F>L	A:53	(66.34, 43.19, 20.17)
20:48166617	rs201673445	G>S	A:62	(74.38, 34.07, 21.21)
20:48166614		D>N	A:63	(75.72, 33.97, 25.13)
20:48164540	rs368280524	R>K	A:72	(77.35, 54.01, 21.32)
20:48164535		V>L	A:74	(76.17, 47.65, 22.27)
20:48164529	rs370701076	V>I	A:76	(75.30, 42.05, 24.49)
20:48164510	rs373007336	S>F	A:82	(81.17, 35.42, 31.96)
20:48164505	rs182204601	D>N	A:84	(82.46, 37.68, 37.74)
20:48164501	COSM3939401	A>V	A:85	(85.10, 39.24, 33.90)
20:48164502	rs139949009	A>T	A:85	(85.10, 39.24, 33.90)
20:48164498	rs77466832	V>A	A:86	(82.92, 42.42, 33.33)
20:48164487		P>T	A:90	(88.96, 48.51, 36.51)
20:48164483	rs144185728	R>H	A:91	(86.53, 54.51, 36.67)
20:48164466		H>Y	A:97	(80.47, 57.86, 36.97)
20:48164454		I>V	A:101	(77.35, 61.63, 35.07)
20:48164441		E>V	A:105	(71.85, 66.18, 32.74)
20:48164442		E>K	A:105	(71.85, 66.18, 32.74)
20:48164430	rs148315757	D>Y	A:109	(68.34, 68.62, 35.97)
20:48164427		V>M	A:110	(72.21, 66.70, 38.72)
20:48164422		Q>H	A:111	(75.97, 69.92, 37.17)
20:48164401	rs5622	S>R	A:118	(84.51, 54.35, 44.85)
20:48164391		A>T	A:122	(81.58, 53.56, 50.61)
20:48160944	rs13306023	M>T	A:140	(60.43, 52.05, 58.00)
20:48160941		Y>C	A:141	(57.18, 48.45, 62.12)
20:48160911		D>G	A:151	(45.91, 56.76, 55.74)
20:48160912	rs201485016	D>N	A:151	(45.91, 56.76, 55.74)
20:48160905		T>I	A:153	(42.18, 55.33, 61.24)
20:48160906		T>S	A:153	(42.18, 55.33, 61.24)
20:48160882	COSM3911547	E>K	A:161	(37.90, 50.49, 46.24)
20:48160867	rs199526901	D>N	A:166	(48.56, 53.56, 43.73)
20:48156256		A>V	A:175	(57.86, 55.66, 54.93)
20:48156253	rs200101009	G>D	A:176	(60.90, 56.25, 53.46)
20:48156254		G>S	A:176	(60.90, 56.25, 53.46)
20:48156236	rs148768155	G>R	A:182	(62.09, 62.90, 58.29)
20:48156228		E>D	A:184	(56.86, 67.88, 61.49)
20:48156227		A>S	A:185	(58.10, 65.59, 65.27)
20:48156217	COSM1027883	R>H	A:188	(56.33, 60.62, 66.78)
20:48156218	rs145481145	R>C	A:188	(56.33, 60.62, 66.78)
20:48156211		H>R	A:190	(47.27, 62.88, 66.49)
20:48156199		A>V	A:194	(49.03, 64.10, 60.49)
20:48156190	rs566137707	R>H	A:197	(48.85, 61.04, 57.32)
20:48156191	rs139965033	R>C	A:197	(48.85, 61.04, 57.32)
20:48156174		D>E	A:202	(52.67, 66.38, 48.34)
20:48156164		T>A	A:206	(54.78, 65.26, 43.04)
20:48156158	COSM256208	R>C	A:208	(54.31, 57.96, 40.32)
20:48156149	rs143394422	D>N	A:211	(58.43, 57.61, 38.09)
20:48156145	rs370989795	R>Q	A:212	(53.55, 58.23, 36.20)
20:48156146	rs201920776	R>W	A:212	(53.55, 58.23, 36.20)
20:48156137		P>S	A:215	(61.39, 56.67, 30.38)
20:48156134		K>Q	A:216	(59.06, 59.92, 27.88)
20:48156124		R>H	A:219	(64.14, 57.07, 25.69)
20:48156125	rs138058562	R>C	A:219	(64.14, 57.07, 25.69)
20:48140772		D>E	A:226	(55.40, 66.09, 28.46)
20:48140774		D>H	A:226	(55.40, 66.09, 28.46)
20:48140765	rs150320603	H>D	A:229	(53.99, 67.92, 34.08)
20:48140760		M>I	A:230	(58.12, 67.05, 34.12)
20:48140758		C>Y	A:231	(59.69, 71.61, 34.69)
20:48140755		S>I	A:232	(56.43, 72.09, 37.10)
20:48140753		V>I	A:233	(57.06, 68.23, 38.91)
20:48140749	rs571969417	K>R	A:234	(61.75, 68.74, 38.01)
20:48140743	rs369038695	R>H	A:236	(55.83, 71.07, 44.68)
20:48140744	rs5626	R>C	A:236	(55.83, 71.07, 44.68)
20:48140734		K>T	A:239	(60.32, 74.68, 47.25)
20:48140725	rs141132754	S>F	A:242	(64.84, 72.16, 50.46)
20:48140715	rs376616272	R>S	A:245	(60.80, 73.26, 53.22)
20:48140717		R>G	A:245	(60.80, 73.26, 53.22)
20:48140708		R>W	A:248	(61.24, 72.38, 59.30)
20:48140704	rs45571835	R>Q	A:249	(61.76, 67.12, 58.64)
20:48140705	rs146513003	R>W	A:249	(61.76, 67.12, 58.64)
20:48140695		R>Q	A:252	(67.75, 65.02, 59.47)
20:48140696	rs145783271	R>W	A:252	(67.75, 65.02, 59.47)
20:48140663		L>V	A:263	(76.66, 67.84, 48.74)
20:48140647		V>E	A:268	(76.93, 72.05, 46.26)
20:48140648		V>M	A:268	(76.93, 72.05, 46.26)
20:48140644		S>L	A:269	(74.14, 74.97, 45.95)
20:48140645	COSM1412388	S>P	A:269	(74.14, 74.97, 45.95)
20:48140639		E>K	A:271	(69.17, 75.85, 45.34)
20:48140634		M>I	A:272	(72.17, 71.47, 42.63)
20:48140635	rs201480227	M>T	A:272	(72.17, 71.47, 42.63)
20:48140626	rs61734270	R>Q	A:275	(68.41, 70.30, 40.88)
20:48140627	rs150671072	R>W	A:275	(68.41, 70.30, 40.88)
20:48140618	rs151193790	V>M	A:278	(65.00, 64.62, 44.00)
20:48140606		W>R	A:282	(65.28, 56.95, 40.90)
20:48140599		T>I	A:284	(65.95, 55.48, 47.79)
20:48130931		G>E	A:286	(61.69, 53.42, 42.88)
20:48130928		N>S	A:287	(62.81, 50.02, 42.96)
20:48130924	COSM1193277	M>I	A:288	(60.73, 49.69, 47.98)
20:48130926	rs140218468	M>V	A:288	(60.73, 49.69, 47.98)
20:48130919		P>L	A:290	(57.32, 48.73, 42.57)
20:48130917		A>T	A:291	(58.35, 45.19, 44.39)
20:48130910		F>S	A:293	(52.29, 45.54, 42.29)
20:48130881		P>A	A:303	(46.35, 30.62, 46.61)
20:48130874	rs368611639	A>V	A:305	(51.72, 31.16, 48.28)
20:48130860		R>C	A:310	(48.59, 34.80, 55.48)
20:48130851		L>V	A:313	(54.38, 35.76, 59.10)
20:48130844		S>N	A:315	(54.09, 30.82, 63.66)
20:48130797		P>A	A:331	(58.65, 40.48, 65.42)
20:48130790		K>T	A:333	(61.27, 35.64, 64.59)
20:48130788		V>I	A:334	(59.69, 38.83, 60.47)
20:48130779		S>G	A:337	(63.42, 33.79, 60.57)
20:48130772		P>L	A:339	(62.36, 31.19, 55.03)
20:48129784		E>Q	A:347	(60.33, 34.04, 42.06)
20:48129773	rs201137032	R>S	A:350	(62.79, 35.15, 38.47)
20:48129768		T>R	A:352	(59.92, 42.13, 38.24)
20:48129759		P>R	A:355	(68.38, 45.96, 35.77)
20:48129747	rs147983323	R>H	A:359	(80.08, 48.78, 32.81)
20:48129741		V>D	A:361	(85.01, 50.26, 26.42)
20:48129724		M>V	A:367	(85.99, 39.28, 27.62)
20:48129718		M>V	A:369	(84.22, 33.92, 28.03)
20:48129709		G>R	A:372	(88.02, 29.71, 27.18)
20:48129705	COSM1412387	R>Q	A:373	(84.61, 31.46, 24.43)
20:48129696	rs149277612	N>S	A:376	(88.80, 41.41, 21.52)
20:48129690	COSM3423718	R>Q	A:378	(86.46, 48.22, 18.79)
20:48129687		R>H	A:379	(89.35, 53.18, 22.82)
20:48129682		D>Y	A:381	(82.39, 49.98, 22.25)
20:48129679		R>C	A:382	(77.22, 51.47, 25.77)
20:48129664		P>A	A:387	(70.47, 40.06, 34.27)
20:48129655		S>G	A:390	(70.64, 35.48, 31.78)
20:48129633		I>T	A:397	(68.80, 28.37, 34.99)
20:48129621		P>L	A:401	(60.98, 30.83, 33.33)
20:48127715		V>A	A:403	(56.00, 30.53, 36.30)
20:48127696		F>L	A:409	(64.73, 30.81, 45.02)
20:48127694		L>R	A:410	(62.55, 26.88, 49.06)
20:48127690		N>K	A:411	(65.55, 23.22, 49.37)
20:48127689		P>A	A:412	(62.54, 20.08, 49.82)
20:48127683		G>R	A:414	(62.76, 24.91, 53.61)
20:48127646	rs144816768	R>Q	A:426	(76.86, 25.88, 41.81)
20:48127647	rs377540375	R>W	A:426	(76.86, 25.88, 41.81)
20:48127640		K>R	A:428	(78.96, 33.43, 41.79)
20:48127619	COSM314564	G>E	A:435	(73.34, 43.96, 40.54)
20:48127609		H>Q	A:438	(82.49, 47.84, 42.51)
20:48127607		N>T	A:439	(77.19, 49.83, 39.92)
20:48127608		N>D	A:439	(77.19, 49.83, 39.92)
20:48127601		C>S	A:441	(72.28, 48.08, 46.05)
20:48127592		R>K	A:444	(70.74, 43.68, 48.86)
20:48127588		S>R	A:445	(69.44, 45.14, 53.68)
20:48127583		A>V	A:447	(64.86, 46.90, 51.05)
20:48127568		K>R	A:452	(60.45, 41.11, 55.06)
20:48124599		F>S	A:454	(54.02, 46.79, 53.17)
20:48124600		F>L	A:454	(54.02, 46.79, 53.17)
20:48124582	rs145551841	V>M	A:460	(48.76, 40.74, 60.29)
20:48124574		L>F	A:462	(45.16, 44.65, 56.42)
20:48124554	rs201918056	A>V	A:469	(40.02, 36.97, 41.28)
20:48124555	rs199725387	A>T	A:469	(40.02, 36.97, 41.28)
20:48124518		Y>C	A:481	(62.48, 46.14, 29.83)
20:48124516	rs140373444	G>S	A:482	(66.78, 49.20, 32.88)
20:48124497	rs151253565	P>L	A:488	(52.44, 48.29, 35.85)
20:48124489	rs373851981	D>N	A:491	(46.84, 49.34, 38.79)
20:48124486	rs200895888 COSM189978	V>M	A:492	(45.43, 45.75, 40.02)
20:48124476	rs149173992	R>H	A:495	(37.79, 44.84, 48.83)
20:48124477	COSM241295	R>C	A:495	(37.79, 44.84, 48.83)
20:48124470	rs375656558	R>H	A:497	(38.56, 44.81, 55.82)
20:48124471	rs575484956	R>C	A:497	(38.56, 44.81, 55.82)
20:48124464		R>H	A:499	(41.63, 41.32, 60.75)
20:48124465	rs372248049	R>C	A:499	(41.63, 41.32, 60.75)
20:48124462	rs5584	P>S	A:500	(37.21, 43.30, 61.41)

2IAG.A | PTGIS.

2IAG.A | PTGIS

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