2C6Q.C | GMPR2

General Structure Information

PDB ID	2c6q
HGNC Gene Label(s)	GMPR2
Structure Name	crystal structure of human guanosine monophosphate reductase 2 gmpr2 in complex with imp and nadph
Resolution	1.7Å
Reference	AUTH G.C.PATTON,P.STENMARK,D.R.GOLLAPALLI,R.SEVASTIK,P.KURSULA,AUTH 2 S.FLODIN,H.SCHULER,C.T.SWALES,H.EKLUND,F.HIMO,P.NORDLUND,AUTH 3 L.HEDSTROMTITL COFACTOR MOBILITY DETERMINES REACTION OUTCOME IN THE IMPDHTITL 2 AND GMPR (BETA-ALPHA)(8) BARREL ENZYMES.REF NAT.CHEM.BIOL. V. 7 950 2011REFN ISSN 1552-4450PMID 22037469DOI 10.1038/NCHEMBIO.693

Variant Set Distributions

ExAC Variants

Number Of Residues	327
Number Of SNVs	91
Number Of Permutations	16467
Optimal Distance Threshold	9.0
K Statistic	0.039
p-value	0.712

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
14:24702497		K>R	C:13	(17.69, 11.23, -7.13)
14:24702514		P>S	C:19	(18.91, 23.20, -21.32)
14:24702515		P>L	C:19	(18.91, 23.20, -21.32)
14:24702520	rs200373853	R>G	C:21	(21.51, 28.34, -29.41)
14:24702685	rs539592224	V>L	C:30	(21.26, 12.24, -32.91)
14:24702689		D>A	C:31	(25.27, 9.45, -34.09)
14:24702698		R>T	C:34	(31.18, 6.91, -28.75)
14:24702701		S>Y	C:35	(34.65, 5.08, -31.60)
14:24702709		F>L	C:38	(39.59, -0.11, -26.30)
14:24702712		R>W	C:39	(45.97, 1.84, -21.87)
14:24702725		Q>L	C:43	(41.56, -3.87, -30.31)
14:24702728	rs201546406	T>I	C:44	(38.67, -0.88, -32.51)
14:24702746		I>N	C:50	(23.80, 0.63, -24.33)
14:24702748		I>V	C:51	(26.15, -3.05, -21.99)
14:24702749	rs370346663	I>T	C:51	(26.15, -3.05, -21.99)
14:24702776	rs199579455	T>I	C:60	(20.27, -13.66, -23.28)
14:24702785		M>T	C:63	(18.63, -9.73, -25.31)
14:24702786		M>I	C:63	(18.63, -9.73, -25.31)
14:24702793		V>I	C:66	(17.42, -7.82, -30.60)
14:24704947		S>C	C:71	(24.50, -1.53, -32.56)
14:24704961		V>L	C:76	(26.96, -13.27, -22.26)
14:24704982	rs368404765	V>I	C:83	(26.95, -26.64, -27.43)
14:24704991		Q>E	C:86	(29.54, -24.37, -31.28)
14:24705000		A>T	C:89	(27.88, -18.77, -33.57)
14:24705004	rs45530636	G>V	C:90	(26.52, -20.36, -36.29)
14:24705015		D>N	C:94	(26.91, -11.02, -38.18)
14:24705018	rs374112563	C>R	C:95	(26.13, -11.22, -33.31)
14:24705026		E>D	C:97	(31.16, -7.25, -33.66)
14:24705182		A>T	C:101	(32.56, -13.39, -22.25)
14:24705201		S>F	C:107	(39.01, -21.93, -11.48)
14:24705206	rs371261787	D>N	C:109	(34.18, -19.18, -13.91)
14:24705209		F>L	C:110	(39.78, -18.24, -16.78)
14:24705221		E>Q	C:114	(40.21, -20.59, -21.07)
14:24705231		L>P	C:117	(37.59, -17.46, -25.88)
14:24705233	rs537372849	E>K	C:118	(39.82, -22.33, -28.53)
14:24705252		K>R	C:124	(38.06, -10.10, -29.47)
14:24705255	rs201394050	Y>S	C:125	(34.90, -7.25, -26.51)
14:24705257	rs201053509	I>V	C:126	(36.94, -10.68, -21.61)
14:24705266		D>N	C:129	(31.91, -9.67, -12.75)
14:24705281		Y>H	C:134	(37.96, -1.91, -4.19)
14:24705318		R>Q	C:146	(45.61, -8.31, -21.00)
14:24705323		R>C	C:148	(45.56, -16.87, -22.13)
14:24705324		R>H	C:148	(45.56, -16.87, -22.13)
14:24705332		Q>E	C:151	(45.35, -9.12, -28.67)
14:24705341		I>V	C:154	(39.69, -6.79, -20.45)
14:24706296	rs369697976	G>A	C:162	(40.00, 5.87, -8.80)
14:24706305		V>A	C:165	(40.01, 2.85, -11.98)
14:24706310		E>K	C:167	(45.36, -0.91, -9.37)
14:24706322		S>P	C:171	(46.71, -4.34, -14.33)
14:24706339	COSM3495402 COSM1734012 COSM3495403 COSM1734013 COSM3495401 COSM1734011	I>M	C:176	(36.72, -0.11, -15.31)
14:24706343		V>M	C:178	(31.37, 1.75, -12.15)
14:24706346	rs139550728	G>R	C:179	(29.40, -0.30, -9.02)
14:24706347	COSM1317870 COSM1317869	G>E	C:179	(29.40, -0.30, -9.02)
14:24706353		G>E	C:181	(24.63, -1.17, -5.03)
14:24706358		G>S	C:183	(20.84, -2.14, -8.08)
14:24706454		S>C	C:184	(17.32, -3.16, -9.05)
14:24706460		C>F	C:186	(21.10, -5.04, -4.93)
14:24706466	rs367939986	T>I	C:188	(25.05, -4.83, -0.91)
14:24706476		K>N	C:191	(22.60, -7.48, 3.73)
14:24706478		T>S	C:192	(27.12, -4.32, 3.74)
14:24706483		V>M	C:194	(29.09, -0.94, 1.16)
14:24706486		G>R	C:195	(28.95, 2.32, -1.15)
14:24706504		A>T	C:201	(31.11, 7.25, -9.27)
14:24706546		H>Y	C:215	(37.53, 3.58, -21.91)
14:24706556		S>L	C:218	(27.56, 2.76, -15.65)
14:24706748		G>A	C:226	(17.68, 9.57, -18.15)
14:24706750	COSM3495405 COSM3495406 COSM3495404	D>N	C:227	(18.89, 7.57, -15.33)
14:24706753		V>M	C:228	(21.14, 6.29, -19.51)
14:24706759		K>Q	C:230	(21.48, 11.62, -15.85)
14:24707457		G>R	C:235	(31.37, 10.09, -18.70)
14:24707469	rs368538673	V>M	C:239	(25.43, 2.28, -19.82)
14:24707472		M>L	C:240	(25.58, -2.41, -17.76)
14:24707493		G>R	C:247	(10.69, -8.80, -18.84)
14:24707497		H>P	C:248	(11.64, -7.69, -22.03)
14:24707514		E>K	C:254	(9.78, -19.01, -15.12)
14:24707523		E>K	C:257	(0.51, -17.05, -16.83)
14:24707538	rs536221763	K>E	C:262	(1.63, -12.52, -18.46)
14:24707539		K>R	C:262	(1.63, -12.52, -18.46)
14:24707550		F>L	C:266	(15.33, -9.44, -12.26)
14:24707563	rs373423906	S>N	C:270	(23.77, -12.65, -4.78)
14:24707568	COSM3814615 COSM3814616 COSM3814614	E>K	C:272	(18.34, -17.62, -1.46)
14:24707598	rs369053454	V>M	C:282	(23.81, -20.06, 1.19)
14:24707602		A>V	C:283	(27.33, -20.42, 2.28)
14:24707808		K>E	C:291	(15.87, -8.29, -4.49)
14:24707815	rs558379130	V>A	C:293	(11.57, -9.21, -8.53)
14:24707829		K>E	C:298	(8.45, -5.46, -20.23)
14:24707833		G>E	C:299	(7.72, -7.93, -24.18)
14:24707835	rs575349224	D>N	C:300	(9.00, -7.85, -27.82)
14:24707836		D>V	C:300	(9.00, -7.85, -27.82)
14:24707838	rs200781258	V>M	C:301	(13.41, -5.66, -26.21)
14:24707845	rs201431034	H>R	C:303	(8.93, -2.22, -28.70)
14:24707854	rs201321705	R>Q	C:306	(12.83, 1.45, -31.34)
14:24707862	rs187634547	L>V	C:309	(17.87, 4.84, -28.24)
14:24707874	rs190855112	R>C	C:313	(17.90, 9.69, -30.45)
14:24707875		R>H	C:313	(17.90, 9.69, -30.45)
14:24707881		T>M	C:315	(19.18, 14.52, -24.19)
14:24707919	rs201619642	S>G	C:328	(30.03, 15.01, -21.73)
14:24707920		S>N	C:328	(30.03, 15.01, -21.73)
14:24707931	rs201207654	T>A	C:332	(25.42, 21.56, -17.14)
14:24707941		R>Q	C:335	(21.56, 19.12, -6.42)