2BWG.C | GMPR – ASTRID

2BWG.C | GMPR

General Structure Information

PDB ID	2bwg
HGNC Gene Label(s)	GMPR
Structure Name	structure of human guanosine monophosphate reductase gmpr1 in complex with gmp
Resolution	2.4Å
Reference	AUTH G.BUNKOCZI,A.HARONITI,S.NG,F.VON DELFT,O.GILEADI,AUTH 2 U.OPPERMANN,C.ARROWSMITH,A.EDWARDS,M.SUNDSTROMTITL STRUCTURE OF HUMAN GUANOSINE MONOPHOSPHATE REDUCTASE GMPR1TITL 2 IN COMPLEX WITH GMPREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	329
Number Of SNVs	100
Number Of Permutations	12945
Optimal Distance Threshold	13.0
K Statistic	0.13
p-value	0.428

COSMIC

Number Of Residues	329
Number Of SNVs	4
Number Of Permutations	65
Optimal Distance Threshold	8.0
K Statistic	0.167
p-value	0.394

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	100
Number Of COSMIC SNVs	3
Optimal Distance Threshold	8.0
K Statistic	0.298
p-value	0.253

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:16238938		D>G	C:5	(10.21, 9.97, -93.78)
6:16238964	rs574231468	D>N	C:14	(4.15, 8.11, -78.82)
6:16238968		V>A	C:15	(6.40, 10.08, -75.31)
6:16238976		R>G	C:18	(14.67, 9.61, -67.07)
6:16238985	rs536919884	R>W	C:21	(20.08, 12.11, -58.66)
6:16247077		D>A	C:31	(9.91, 29.84, -61.61)
6:16247083		E>V	C:33	(7.97, 33.83, -64.72)
6:16247085	rs150485998	R>C	C:34	(10.82, 31.26, -69.92)
6:16247086	COSM1075798	R>H	C:34	(10.82, 31.26, -69.92)
6:16247089		T>I	C:35	(12.55, 36.03, -69.65)
6:16247101	rs372790288 COSM1075799	R>Q	C:39	(15.68, 37.69, -84.64)
6:16247133		I>F	C:50	(0.70, 29.00, -70.85)
6:16247148		M>V	C:55	(-10.33, 29.74, -80.46)
6:16247172		M>V	C:63	(-10.31, 33.56, -70.31)
6:16247176		A>V	C:64	(-7.64, 37.52, -69.86)
6:16247181	rs149627498	V>M	C:66	(-8.26, 34.95, -65.14)
6:16247192		Q>H	C:69	(-5.19, 37.03, -62.05)
6:16250516		H>P	C:70	(-2.69, 32.92, -62.69)
6:16250521		M>V	C:72	(-1.13, 32.79, -67.98)
6:16250524		F>L	C:73	(-0.38, 35.68, -73.57)
6:16250528		T>I	C:74	(-4.70, 35.70, -73.90)
6:16250560		W>R	C:85	(-9.09, 44.98, -77.95)
6:16250566		L>F	C:87	(-14.35, 48.62, -72.58)
6:16250573	rs376061082	A>V	C:89	(-8.30, 49.15, -71.82)
6:16250576	rs138048670	T>R	C:90	(-10.73, 51.47, -69.89)
6:16250591		C>Y	C:95	(-4.34, 42.57, -69.08)
6:16254796		V>I	C:99	(-2.95, 40.52, -74.71)
6:16254799		A>T	C:100	(-2.86, 39.30, -78.48)
6:16254802	rs371116639 COSM1075801	V>M	C:101	(-4.09, 41.51, -81.73)
6:16254815		S>N	C:105	(-4.00, 37.81, -94.53)
6:16254818	rs143541443	G>E	C:106	(-6.35, 40.60, -94.77)
6:16254830	rs147133101	L>P	C:110	(-4.04, 44.75, -91.49)
6:16254839		M>T	C:113	(-4.56, 44.93, -86.20)
6:16254846		S>R	C:115	(-7.27, 50.31, -85.17)
6:16254848		I>T	C:116	(-6.95, 47.72, -82.14)
6:16254862		P>S	C:121	(-0.66, 51.67, -77.17)
6:16254868		V>F	C:123	(-1.28, 45.83, -77.33)
6:16254873		K>N	C:124	(3.48, 45.82, -77.93)
6:16254881		C>S	C:127	(-1.60, 36.76, -83.88)
6:16254896		N>S	C:132	(-0.69, 28.00, -96.50)
6:16254905		S>L	C:135	(2.63, 31.00, -98.52)
6:16254922		F>L	C:141	(0.69, 39.76, -93.85)
6:16254924	COSM275312	F>L	C:141	(0.69, 39.76, -93.85)
6:16254937		R>C	C:146	(8.08, 43.44, -88.04)
6:16254938	rs375604923 COSM1208381 COSM362435	R>H	C:146	(8.08, 43.44, -88.04)
6:16254940		A>T	C:147	(7.13, 47.37, -91.24)
6:16254941	rs142197224	A>G	C:147	(7.13, 47.37, -91.24)
6:16254944		K>I	C:148	(2.47, 48.31, -90.49)
6:16254949	rs146267686	P>S	C:150	(8.59, 47.97, -85.82)
6:16254955	rs369636445	H>N	C:152	(4.23, 45.67, -82.09)
6:16254961	rs369120972	I>V	C:154	(4.98, 39.15, -84.86)
6:16254964		M>V	C:155	(2.36, 35.50, -82.60)
6:16254965		M>T	C:155	(2.36, 35.50, -82.60)
6:16274646		A>S	C:156	(3.23, 33.29, -86.91)
6:16274655		V>M	C:159	(4.37, 25.73, -89.29)
6:16274674		V>A	C:165	(10.54, 28.42, -88.73)
6:16274689		L>P	C:170	(14.65, 35.36, -91.69)
6:16274692		S>F	C:171	(10.41, 37.45, -92.75)
6:16274694	rs368739126 COSM483669	G>R	C:172	(9.68, 38.98, -88.83)
6:16274698		A>G	C:173	(8.60, 36.63, -87.04)
6:16274703		I>V	C:175	(6.68, 33.90, -81.84)
6:16274704		I>T	C:175	(6.68, 33.90, -81.84)
6:16274719		V>A	C:180	(-0.76, 21.12, -88.82)
6:16279032	COSM2150189	R>C	C:189	(-5.23, 14.59, -89.13)
6:16279033	rs368612045	R>H	C:189	(-5.23, 14.59, -89.13)
6:16279045	rs369975012	G>E	C:193	(-3.76, 14.65, -95.18)
6:16279051	rs138091114	G>E	C:195	(0.35, 16.90, -91.32)
6:16279057		P>L	C:197	(3.31, 14.68, -85.61)
6:16279060		Q>R	C:198	(2.57, 18.77, -82.01)
6:16279071	COSM1075803	V>I	C:202	(7.96, 20.98, -81.19)
6:16279077		E>K	C:204	(11.65, 19.05, -86.27)
6:16279086		D>N	C:207	(16.11, 22.76, -83.04)
6:16279117		I>T	C:217	(3.70, 28.83, -80.10)
6:16279120		S>F	C:218	(2.82, 24.40, -79.10)
6:16286037	COSM311497 COSM169148	T>M	C:223	(-5.25, 16.38, -73.98)
6:16286040		C>Y	C:224	(-2.95, 16.94, -70.83)
6:16286054	rs370718140	A>T	C:229	(5.19, 19.18, -70.36)
6:16286055		A>G	C:229	(5.19, 19.18, -70.36)
6:16286060		A>T	C:231	(6.00, 20.65, -75.20)
6:16286061	rs146771786	A>D	C:231	(6.00, 20.65, -75.20)
6:16290695		A>T	C:234	(10.63, 19.64, -76.91)
6:16290696	rs201127981 COSM1442120	A>V	C:234	(10.63, 19.64, -76.91)
6:16290699	rs368774305	G>E	C:235	(11.15, 23.40, -76.86)
6:16290714		M>T	C:240	(-1.56, 27.98, -77.99)
6:16290717	rs143277148	L>P	C:241	(-3.85, 25.66, -74.72)
6:16290722		G>R	C:243	(-9.57, 22.78, -75.25)
6:16290732	rs148307161	S>L	C:246	(-12.87, 24.41, -73.27)
6:16290741		T>M	C:249	(-17.59, 30.38, -66.65)
6:16290756	rs199783538	E>A	C:254	(-24.16, 29.38, -72.73)
6:16290761	rs1042391	F>I	C:256	(-26.22, 23.37, -72.38)
6:16290763		F>L	C:256	(-26.22, 23.37, -72.38)
6:16290776	rs374348859	R>W	C:261	(-25.81, 17.50, -69.13)
6:16290777		R>Q	C:261	(-25.81, 17.50, -69.13)
6:16290793	rs367924735	F>L	C:266	(-14.54, 24.41, -78.66)
6:16290795		Y>C	C:267	(-16.88, 27.84, -82.31)
6:16290797	rs543494763	G>R	C:268	(-13.67, 26.49, -85.01)
6:16290813		T>I	C:273	(-20.28, 27.83, -86.38)
6:16290816		A>V	C:274	(-17.73, 30.69, -87.71)
6:16290819	rs146699039	M>R	C:275	(-18.02, 30.08, -91.74)
6:16290823		N>K	C:276	(-22.75, 30.80, -90.03)
6:16295252		K>N	C:291	(-14.52, 19.41, -85.07)
6:16295254		T>N	C:292	(-18.73, 22.10, -83.89)
6:16295262	rs143475157	V>F	C:295	(-17.56, 20.87, -74.10)
6:16295278	rs78806162	D>V	C:300	(-14.74, 28.66, -62.61)
6:16295289		T>P	C:304	(-7.97, 24.30, -65.26)
6:16295307		G>R	C:310	(1.15, 21.93, -61.12)
6:16295308		G>E	C:310	(1.15, 21.93, -61.12)
6:16295311	rs567737582	G>V	C:311	(2.04, 19.68, -63.21)
6:16295322		T>P	C:315	(7.31, 17.86, -64.62)
6:16295323		T>M	C:315	(7.31, 17.86, -64.62)
6:16295343	rs538850176	A>T	C:322	(13.84, 25.04, -60.97)
6:16295349		L>F	C:324	(9.81, 26.24, -67.51)
6:16295366	rs201059150	R>S	C:329	(17.96, 21.58, -70.69)
6:16295382		R>W	C:335	(10.24, 5.55, -77.36)
6:16295383	COSM3948743	R>Q	C:335	(10.24, 5.55, -77.36)

2BWG.C | GMPR.

2BWG.C | GMPR

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