2X8B.A | ACHE – ASTRID

2X8B.A | ACHE

General Structure Information

PDB ID	2x8b
HGNC Gene Label(s)	ACHE
Structure Name	crystal structure of human acetylcholinesterase inhibited by aged tabun and complexed with fasciculin-ii
Resolution	2.95Å
Reference	AUTH E.CARLETTI,J.P.COLLETIER,F.DUPEUX,M.TROVASLET,AUTH 2 P.MASSON,F.NACHONTITL STRUCTURAL EVIDENCE THAT HUMANTITL 2 ACETYLCHOLINESTERASE INHIBITED BY TABUN AGESTITL 3 THROUGH O-DEALKYLATIONREF J.MED.CHEM. V. 53 4002 2010REFN ISSN 0022-2623PMID 20408548DOI 10.1021/JM901853B

Variant Set Distributions

ExAC Variants

Number Of Residues	536
Number Of SNVs	107
Number Of Permutations	49268
Optimal Distance Threshold	12.0
K Statistic	0.05
p-value	0.061

COSMIC

Number Of Residues	536
Number Of SNVs	10
Number Of Permutations	5362
Optimal Distance Threshold	23.0
K Statistic	0.356
p-value	0.902

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	107
Number Of COSMIC SNVs	9
Optimal Distance Threshold	30.0
K Statistic	0.121
p-value	0.567

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
7:100491729	rs116298479	T>M	A:11	(133.85, 110.03, -168.84)
7:100491723	rs371989032	R>H	A:13	(126.45, 113.40, -170.20)
7:100491724		R>C	A:13	(126.45, 113.40, -170.20)
7:100491714		R>Q	A:16	(138.05, 114.54, -167.94)
7:100491708		R>Q	A:18	(141.72, 111.33, -160.58)
7:100491696		L>R	A:22	(139.55, 100.59, -152.48)
7:100491690		T>N	A:24	(139.29, 93.71, -150.26)
7:100491687	rs114782198	P>L	A:25	(140.19, 90.83, -148.46)
7:100491678		P>R	A:28	(140.17, 94.55, -156.15)
7:100491679		P>S	A:28	(140.17, 94.55, -156.15)
7:100491637	rs143172740	M>V	A:42	(126.39, 128.38, -151.44)
7:100491627	rs200961647 COSM3876541 COSM3876542	R>H	A:45	(122.03, 128.68, -155.40)
7:100491588	rs114367422	G>E	A:58	(138.88, 118.38, -166.83)
7:100491576		A>D	A:62	(137.62, 110.92, -157.08)
7:100491564		Q>P	A:66	(134.00, 116.51, -150.76)
7:100491561		S>N	A:67	(132.36, 117.93, -147.47)
7:100491520	rs61729575	E>Q	A:81	(132.79, 103.98, -130.91)
7:100491492		R>H	A:90	(135.86, 113.67, -144.13)
7:100491453		T>I	A:103	(132.78, 99.45, -159.44)
7:100491451	rs17885778	P>A	A:104	(133.24, 96.05, -159.75)
7:100491444		P>L	A:106	(137.21, 93.90, -163.64)
7:100491415	rs146564868	V>I	A:116	(121.25, 103.58, -153.97)
7:100491361	rs144426398	D>N	A:134	(133.08, 101.25, -147.09)
7:100491358		G>C	A:135	(131.38, 99.66, -150.33)
7:100491340		A>T	A:141	(131.08, 90.07, -152.82)
7:100491333		R>K	A:143	(131.36, 91.59, -159.30)
7:100491334		R>G	A:143	(131.36, 91.59, -159.30)
7:100491307		R>W	A:152	(120.44, 120.24, -148.87)
7:100491276		P>L	A:162	(104.91, 126.44, -146.41)
7:100491267		R>Q	A:165	(109.62, 129.53, -155.67)
7:100491226		A>T	A:179	(121.21, 111.66, -157.71)
7:100491195		A>V	A:189	(130.08, 104.45, -166.86)
7:100491177		T>I	A:195	(117.00, 98.98, -165.89)
7:100491168		T>M	A:198	(117.77, 98.98, -155.35)
7:100491151		A>T	A:204	(115.75, 108.62, -142.38)
7:100491142		A>T	A:207	(111.87, 107.47, -144.77)
7:100491125		H>Q	A:212	(111.75, 108.82, -153.22)
7:100491114	rs143875983	P>L	A:216	(105.16, 110.40, -158.39)
7:100491111		P>L	A:217	(108.13, 112.55, -159.58)
7:100491105		R>Q	A:219	(107.65, 105.05, -158.60)
7:100491085		V>L	A:226	(115.32, 98.36, -148.69)
7:100491082	COSM743629 COSM1150510	L>M	A:227	(112.45, 100.33, -145.91)
7:100491063		N>S	A:233	(104.33, 105.99, -141.60)
7:100491055		W>R	A:236	(110.36, 109.79, -137.45)
7:100491052		A>T	A:237	(108.99, 111.79, -140.54)
7:100491048	COSM3631111 COSM3631112	T>M	A:238	(106.21, 113.87, -141.42)
7:100491040		M>V	A:241	(101.83, 123.13, -143.92)
7:100491037		G>R	A:242	(102.04, 124.79, -139.70)
7:100491027	rs533264163	R>H	A:245	(104.96, 129.08, -141.59)
7:100491024		R>H	A:246	(106.29, 126.62, -134.80)
7:100491025		R>C	A:246	(106.29, 126.62, -134.80)
7:100491011		Q>H	A:250	(110.83, 129.57, -133.03)
7:100490968		N>H	A:265	(107.36, 139.05, -146.57)
7:100490964	rs202174292	D>V	A:266	(107.78, 134.60, -146.46)
7:100490958		E>V	A:268	(111.61, 140.30, -145.37)
7:100490940	rs375157729	R>Q	A:274	(119.09, 133.16, -148.11)
7:100490937		T>I	A:275	(122.60, 136.70, -143.98)
7:100490900	rs550722884 COSM1083199 COSM1596592	H>Q	A:287	(116.13, 126.39, -129.31)
7:100490881		V>I	A:294	(112.64, 111.07, -127.31)
7:100490815		I>F	A:316	(100.44, 103.98, -147.81)
7:100490812		N>D	A:317	(95.99, 103.76, -147.45)
7:100490808		A>V	A:318	(95.61, 104.50, -152.10)
7:100490809	rs116131706	A>T	A:318	(95.61, 104.50, -152.10)
7:100490801		D>E	A:320	(98.68, 100.33, -156.99)
7:100490797	rs1799805	H>N	A:322	(100.20, 95.70, -158.33)
7:100490412		G>S	A:335	(114.54, 102.20, -128.22)
7:100490367	COSM393747	N>D	A:350	(123.98, 102.82, -115.32)
7:100490351		S>N	A:355	(111.52, 103.43, -110.77)
7:100490348		R>P	A:356	(105.87, 101.66, -112.05)
7:100490324		R>Q	A:364	(103.90, 111.70, -120.66)
7:100490325		R>W	A:364	(103.90, 111.70, -120.66)
7:100490322	rs41281001	V>F	A:365	(109.49, 111.44, -122.78)
7:100490272		H>Q	A:381	(100.25, 96.91, -123.64)
7:100490273	rs370742086	H>R	A:381	(100.25, 96.91, -123.64)
7:100490238		R>C	A:393	(110.10, 92.51, -115.94)
7:100490205		D>N	A:404	(106.96, 99.60, -130.65)
7:100490184	rs367977631	V>M	A:411	(107.43, 99.23, -140.57)
7:100490175		L>V	A:414	(104.28, 100.11, -144.86)
7:100490160	rs535618245	A>S	A:419	(101.06, 93.44, -149.49)
7:100490147		A>G	A:423	(103.42, 94.21, -153.27)
7:100490144	rs201546756	R>Q	A:424	(106.19, 89.69, -153.54)
7:100490136	rs148991713	A>T	A:427	(110.40, 90.65, -143.42)
7:100490130	rs546907479	V>I	A:429	(113.97, 90.73, -136.93)
7:100490123		E>G	A:431	(117.44, 88.75, -133.42)
7:100490117	COSM3876525 COSM3876526	R>H	A:433	(125.34, 93.02, -128.72)
7:100490108	COSM1568195 COSM1568196	T>M	A:436	(132.37, 95.27, -131.60)
7:100490093	rs145811992	L>P	A:441	(124.23, 94.13, -122.34)
7:100490030		S>F	A:462	(141.43, 96.14, -139.04)
7:100490027	rs374462106 COSM1446726 COSM1446727	R>Q	A:463	(137.29, 97.06, -138.22)
7:100490018		T>M	A:466	(133.85, 86.91, -134.90)
7:100490015	rs139429533	A>V	A:467	(134.22, 84.14, -137.63)
7:100490003		I>T	A:471	(130.02, 83.85, -142.12)
7:100489993		Q>H	A:474	(129.86, 86.62, -146.23)
7:100489991		R>Q	A:475	(123.68, 84.59, -144.00)
7:100489984		M>I	A:477	(126.36, 90.87, -148.24)
7:100489982		R>Q	A:478	(124.70, 86.13, -151.43)
7:100489958		T>K	A:486	(115.71, 88.96, -158.04)
7:100488951		N>S	A:490	(115.73, 83.46, -151.06)
7:100488945		P>L	A:492	(118.22, 81.73, -156.79)
7:100488924		Q>P	A:499	(112.80, 79.37, -148.20)
7:100488916		P>A	A:502	(106.43, 86.32, -148.49)
7:100488904		G>R	A:506	(98.04, 88.02, -142.27)
7:100488901		A>T	A:507	(100.38, 85.66, -141.93)
7:100488897	COSM3831351 COSM3831352	Q>R	A:508	(101.61, 88.87, -139.93)
7:100488879		D>G	A:514	(120.39, 85.00, -136.11)
7:100488874		R>W	A:516	(119.96, 80.01, -134.18)
7:100488871		P>S	A:517	(119.73, 79.29, -139.12)
7:100488855		R>L	A:522	(103.48, 83.19, -138.39)
7:100488837		A>D	A:528	(101.36, 96.31, -129.84)
7:100488821		N>K	A:533	(98.19, 101.25, -135.50)
7:100488814		L>F	A:536	(95.98, 105.65, -129.51)
7:100488802		L>V	A:540	(93.95, 110.81, -129.25)
7:100488799		S>R	A:541	(89.45, 111.53, -131.36)
7:100488792		T>S	A:543	(91.08, 113.11, -125.79)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
7:100491627	COSM3876541	R>H	A:45	(122.03, 128.68, -155.40)
7:100491616	COSM1133792	P>S	A:49	(115.83, 123.70, -154.95)
7:100491150	COSM1547639	A>E	A:204	(115.75, 108.62, -142.38)
7:100490875	COSM1717942	R>W	A:296	(109.84, 113.16, -132.02)
7:100490797	COSM3762248	H>N	A:322	(100.20, 95.70, -158.33)
7:100490391	COSM1150508	G>R	A:342	(115.93, 111.89, -120.97)
7:100490067	COSM1446728	E>K	A:450	(121.62, 96.79, -139.14)
7:100488907	COSM3081075	A>T	A:505	(98.49, 90.91, -143.94)
7:100488850	COSM3081070	L>V	A:524	(106.16, 92.43, -136.75)
7:100488808	COSM4592057	K>Q	A:538	(89.40, 104.89, -132.14)

2X8B.A | ACHE.

2X8B.A | ACHE

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