1MX1.D | CES1 – ASTRID

1MX1.D | CES1

General Structure Information

PDB ID	1mx1
HGNC Gene Label(s)	CES1
Structure Name	crystal structure of human liver carboxylesterase in complex with tacrine
Resolution	2.4Å
Reference	AUTH S.BENCHARIT,C.L.MORTON,J.L.HYATT,P.KUHN,M.K.DANKS,AUTH 2 P.M.POTTER,M.R.REDINBOTITL CRYSTAL STRUCTURE OF HUMAN CARBOXYLESTERASE 1 COMPLEXED WITHTITL 2 THE ALZHEIMERS DRUG TACRINE: FROM BINDING PROMISCUITY TOTITL 3 SELECTIVE INHIBITIONREF CHEM.BIOL. V. 10 341 2003REFN ISSN 1074-5521PMID 12725862DOI 10.1016/S1074-5521(03)00071-1

Variant Set Distributions

ExAC Variants

Number Of Residues	531
Number Of SNVs	118
Number Of Permutations	52643
Optimal Distance Threshold	7.0
K Statistic	0.019
p-value	0.496

COSMIC

Number Of Residues	531
Number Of SNVs	22
Number Of Permutations	20486
Optimal Distance Threshold	17.0
K Statistic	0.225
p-value	0.133

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	118
Number Of COSMIC SNVs	23
Optimal Distance Threshold	17.0
K Statistic	0.068
p-value	0.076

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:55862871	rs142474691	S>L	D:4022	(-28.24, 33.03, 65.66)
16:55862868		P>Q	D:4023	(-26.22, 31.61, 63.07)
16:55862865		P>R	D:4024	(-27.93, 31.07, 59.36)
16:55862863		V>L	D:4025	(-30.35, 27.05, 60.41)
16:55862853		T>N	D:4028	(-31.93, 20.80, 53.02)
16:55862851	rs567541939	V>M	D:4029	(-33.80, 17.46, 50.98)
16:55862835		L>R	D:4034	(-24.76, 26.52, 60.03)
16:55862820	rs140555786	S>I	D:4039	(-22.98, 42.82, 56.66)
16:55862811	COSM3510335	G>E	D:4042	(-25.94, 49.89, 52.73)
16:55862805	rs142469038	A>V	D:4044	(-29.44, 46.31, 56.90)
16:55862806		A>T	D:4044	(-29.44, 46.31, 56.90)
16:55862800		P>S	D:4046	(-27.97, 40.57, 56.91)
16:55862781	COSM3510333	G>E	D:4052	(-20.05, 23.73, 51.02)
16:55862782	rs372817758	G>R	D:4052	(-20.05, 23.73, 51.02)
16:55862763	COSM1284099	P>L	D:4058	(-18.19, 12.11, 46.66)
16:55862764		P>A	D:4058	(-18.19, 12.11, 46.66)
16:55862760	rs75463934	P>L	D:4059	(-16.25, 11.89, 42.67)
16:55862746	rs140170886	R>G	D:4064	(-11.94, 8.24, 38.91)
16:55862716		W>R	D:4074	(-26.92, 16.15, 55.75)
16:55862712	rs2307240	S>N	D:4075	(-27.81, 13.64, 60.64)
16:55862703	rs373547343	K>R	D:4078	(-23.56, 19.97, 57.11)
16:55862694	rs139250836	T>I	D:4081	(-18.64, 28.01, 57.46)
16:55862682	rs144498758	P>L	D:4085	(-12.29, 21.78, 48.15)
16:55862680		M>L	D:4086	(-9.74, 23.61, 44.14)
16:55860205	rs5023782	C>F	D:4087	(-11.34, 20.55, 41.49)
16:55860206	rs149261413	C>R	D:4087	(-11.34, 20.55, 41.49)
16:55860190		K>R	D:4092	(1.76, 26.52, 40.29)
16:55860187		A>V	D:4093	(-2.55, 27.86, 37.45)
16:55860188		A>T	D:4093	(-2.55, 27.86, 37.45)
16:55860177		L>F	D:4096	(-2.21, 32.84, 38.68)
16:55860176	rs5023781	L>I	D:4097	(-7.09, 32.21, 37.32)
16:55860162		F>L	D:4101	(-10.37, 36.17, 36.92)
16:55860161		T>A	D:4102	(-10.72, 37.62, 42.87)
16:55860148		E>G	D:4106	(-8.70, 38.35, 50.59)
16:55860141		I>M	D:4108	(-9.17, 32.50, 49.36)
16:55860143		I>V	D:4108	(-9.17, 32.50, 49.36)
16:55860139		P>L	D:4109	(-6.08, 30.04, 50.03)
16:55860116		L>V	D:4117	(-19.01, 17.91, 43.53)
16:55860106		N>S	D:4120	(-20.81, 28.44, 47.42)
16:55860101	rs143765198	Y>D	D:4122	(-23.02, 33.98, 48.30)
16:55860097		T>I	D:4123	(-29.20, 34.73, 50.59)
16:55860082		T>I	D:4128	(-37.48, 34.74, 59.11)
16:55860072		N>K	D:4131	(-38.40, 35.34, 50.24)
16:55860073		N>S	D:4131	(-38.40, 35.34, 50.24)
16:55860070		R>K	D:4132	(-40.13, 32.18, 46.49)
16:55857559	rs146456965	G>C	D:4147	(-10.89, 26.63, 38.91)
16:55857511	rs372957576	V>M	D:4163	(-30.23, 38.27, 43.69)
16:55857498	rs147694791	T>S	D:4167	(-21.11, 29.56, 43.41)
16:55857487	COSM3510326	R>C	D:4171	(-16.25, 15.92, 37.64)
16:55855431		T>R	D:4180	(-13.19, 6.65, 25.19)
16:55855401	rs552379877	G>V	D:4190	(-18.79, 18.29, 34.22)
16:55855402	rs150241462	G>C	D:4190	(-18.79, 18.29, 34.22)
16:55855395	rs184487882	L>P	D:4192	(-23.18, 15.53, 33.78)
16:55855387		V>M	D:4195	(-27.00, 19.29, 35.28)
16:55855374	rs2307243	R>H	D:4199	(-31.98, 18.49, 38.37)
16:55855361	rs2307227	D>E	D:4203	(-34.94, 20.09, 44.47)
16:55855360		N>Y	D:4204	(-32.94, 22.59, 47.79)
16:55855356		I>N	D:4205	(-33.20, 27.62, 46.11)
16:55855353		A>V	D:4206	(-36.71, 27.72, 48.46)
16:55855338		N>T	D:4211	(-38.01, 31.30, 42.26)
16:55855330		S>P	D:4214	(-36.17, 32.45, 38.40)
16:55855324		T>P	D:4216	(-30.12, 32.92, 35.55)
16:55855311	rs200707504	E>G	D:4220	(-15.79, 33.86, 31.81)
16:55855300		G>R	D:4224	(-19.97, 30.09, 28.63)
16:55855296	rs543499053	E>G	D:4225	(-18.76, 26.16, 26.65)
16:55853542		I>V	D:4270	(0.56, 6.10, 26.92)
16:55853524		T>P	D:4276	(-4.12, 1.11, 24.66)
16:55853521	rs200489319	T>A	D:4277	(-5.96, -3.05, 24.51)
16:55853512		A>T	D:4280	(-12.16, -0.68, 29.20)
16:55853504	COSM558283	M>I	D:4282	(-7.90, 3.07, 28.60)
16:55853499		H>R	D:4284	(-9.69, -0.85, 35.29)
16:55853460	COSM1378418	T>M	D:4297	(-0.62, 12.80, 33.71)
16:55853453		L>F	D:4299	(1.66, 18.39, 35.24)
16:55853449	rs139614238	M>V	D:4301	(-0.19, 16.18, 28.71)
16:55850874	rs537106281	K>E	D:4302	(3.17, 20.61, 29.24)
16:55850869		F>L	D:4303	(-3.13, 19.99, 29.26)
16:55850864		S>F	D:4305	(0.69, 25.51, 26.67)
16:55850857		D>E	D:4307	(3.49, 22.82, 21.33)
16:55850849	rs142855408	G>V	D:4310	(5.95, 20.24, 16.14)
16:55850843		P>H	D:4312	(0.45, 22.18, 15.12)
16:55850844		P>A	D:4312	(0.45, 22.18, 15.12)
16:55850841		R>G	D:4313	(-1.97, 19.12, 12.13)
16:55846940	rs138161688	G>S	D:4320	(-13.52, 18.59, 26.64)
16:55846934	COSM971600	V>L	D:4322	(-17.61, 15.47, 23.90)
16:55846930		I>T	D:4323	(-20.54, 14.82, 20.79)
16:55846909		K>R	D:4330	(-26.51, 16.63, 17.02)
16:55846898	rs543385969	E>K	D:4334	(-25.49, 19.47, 13.39)
16:55846895		L>F	D:4335	(-27.99, 21.08, 17.82)
16:55846888		A>G	D:4337	(-29.63, 24.27, 12.61)
16:55846878	rs576295379	N>K	D:4340	(-33.28, 20.44, 19.55)
16:55846879		N>S	D:4340	(-33.28, 20.44, 19.55)
16:55846872	rs374924526	H>Q	D:4342	(-35.91, 25.12, 23.80)
16:55846874		H>N	D:4342	(-35.91, 25.12, 23.80)
16:55846864		P>L	D:4345	(-34.05, 34.43, 27.59)
16:55846865	COSM1378417	P>S	D:4345	(-34.05, 34.43, 27.59)
16:55846859	rs145135221	M>V	D:4347	(-26.97, 38.08, 27.60)
16:55846839		Q>H	D:4353	(-8.37, 43.84, 23.96)
16:55846840	rs542507079	Q>R	D:4353	(-8.37, 43.84, 23.96)
16:55846833		F>L	D:4355	(-5.48, 36.49, 22.55)
16:55846834		F>S	D:4355	(-5.48, 36.49, 22.55)
16:55846828		W>S	D:4357	(-1.80, 40.20, 30.11)
16:55846823	COSM1293600	I>L	D:4359	(-5.38, 34.04, 27.10)
16:55846817	rs571865256	M>V	D:4361	(0.09, 35.23, 30.52)
16:55844909	rs146595460	Y>C	D:4366	(0.96, 32.52, 22.36)
16:55844890		Q>H	D:4372	(7.93, 43.90, 17.48)
16:55844891		Q>R	D:4372	(7.93, 43.90, 17.48)
16:55844882		Q>R	D:4375	(2.83, 39.51, 7.40)
16:55844877		T>S	D:4377	(6.27, 36.02, 12.43)
16:55844874	COSM471831	A>T	D:4378	(2.33, 35.80, 11.93)
16:55844871	rs140704082	M>V	D:4379	(2.14, 33.66, 8.47)
16:55844865		L>F	D:4381	(2.74, 32.64, 15.73)
16:55844861	rs201004290	L>R	D:4382	(-1.86, 31.70, 12.91)
16:55844853		S>A	D:4385	(-2.35, 28.86, 16.93)
16:55844844	COSM1290544	L>F	D:4388	(-6.38, 28.18, 19.97)
16:55844555	COSM1709189	P>A	D:4397	(-1.91, 33.28, 3.99)
16:55844549		A>S	D:4399	(-5.85, 35.73, 7.04)
16:55844546	rs149663601	T>S	D:4400	(-2.37, 37.28, 7.75)
16:55844539		K>I	D:4402	(-8.35, 40.91, 5.66)
16:55844537		Y>H	D:4403	(-7.48, 40.69, 10.53)
16:55844528		G>R	D:4406	(-2.43, 47.63, 6.10)
16:55844524	COSM353923	T>R	D:4407	(-0.15, 48.81, 8.47)
16:55844517	rs370123191	D>E	D:4409	(3.60, 49.27, 12.76)
16:55844515		T>S	D:4410	(5.78, 45.72, 13.65)
16:55844516		T>A	D:4410	(5.78, 45.72, 13.65)
16:55844493	COSM4061301 COSM3510321	F>L	D:4417	(-1.79, 37.98, 15.50)
16:55844487	rs139540470	D>E	D:4419	(-7.74, 41.64, 16.95)
16:55844489		D>Y	D:4419	(-7.74, 41.64, 16.95)
16:55844482		I>R	D:4421	(-6.54, 34.98, 17.79)
16:55844471		M>V	D:4425	(-11.15, 32.42, 20.04)
16:55844462		V>I	D:4428	(-17.23, 35.19, 14.88)
16:55844456	rs372638605	S>A	D:4430	(-20.52, 35.00, 19.89)
16:55844452		V>E	D:4431	(-22.24, 36.94, 16.46)
16:55844449	rs114277361	I>T	D:4432	(-22.61, 32.84, 14.52)
16:55844440	rs145088728	R>Q	D:4435	(-26.35, 36.46, 13.38)
16:55844436		N>K	D:4436	(-28.49, 30.87, 15.02)
16:55844438	COSM279847	N>D	D:4436	(-28.49, 30.87, 15.02)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:55862829	COSM1248119	K>T	D:4036	(-21.34, 33.09, 57.30)
16:55862824	COSM4598749	V>F	D:4038	(-22.10, 38.90, 55.95)
16:55862811	COSM3510335	G>E	D:4042	(-25.94, 49.89, 52.73)
16:55862791	COSM4129126	I>V	D:4049	(-22.94, 33.31, 53.37)
16:55862776	COSM1709190	P>S	D:4054	(-23.17, 18.96, 49.40)
16:55862691	COSM1745024	S>L	D:4082	(-15.77, 26.22, 55.15)
16:55862682	COSM3361806	P>L	D:4085	(-12.29, 21.78, 48.15)
16:55860154	COSM274526	R>Q	D:4104	(-12.89, 37.61, 47.56)
16:55857555	COSM435393	A>V	D:4148	(-13.10, 28.12, 41.45)
16:55857517	COSM3510327	E>K	D:4161	(-29.65, 43.99, 42.29)
16:55857487	COSM3510326	R>C	D:4171	(-16.25, 15.92, 37.64)
16:55857480	COSM1609424	G>D	D:4173	(-10.17, 17.64, 33.21)
16:55855423	COSM3510325	E>K	D:4183	(-19.78, 2.46, 25.78)
16:55855413	COSM1629930	R>Q	D:4186	(-20.91, 8.07, 27.02)
16:55855375	COSM1519384	R>C	D:4199	(-31.98, 18.49, 38.37)
16:55855329	COSM971606	S>F	D:4214	(-36.17, 32.45, 38.40)
16:55855305	COSM1378419	A>V	D:4222	(-15.79, 27.76, 30.00)
16:55855282	COSM971605	L>I	D:4230	(-26.44, 23.70, 29.50)
16:55853490	COSM1179121	R>Q	D:4287	(-12.10, 3.94, 36.96)
16:55853460	COSM1378418	T>M	D:4297	(-0.62, 12.80, 33.71)
16:55846865	COSM1378417	P>S	D:4345	(-34.05, 34.43, 27.59)
16:55844555	COSM1709189	P>S	D:4397	(-1.91, 33.28, 3.99)
16:55844487	COSM703412	D>E	D:4419	(-7.74, 41.64, 16.95)

1MX1.D | CES1.

1MX1.D | CES1

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