1QH5.A | HAGH – ASTRID

1QH5.A | HAGH

General Structure Information

PDB ID	1qh5
HGNC Gene Label(s)	HAGH
Structure Name	human glyoxalase ii with s-(n-hydroxy-n-bromophenylcarbamoyl) glutathione
Resolution	1.45Å
Reference	AUTH A.D.CAMERON,M.RIDDERSTROM,B.OLIN,B.MANNERVIKTITL CRYSTAL STRUCTURE OF HUMAN GLYOXALASE II AND ITS COMPLEXTITL 2 WITH A GLUTATHIONE THIOLESTER SUBSTRATE ANALOGUE.REF STRUCTURE FOLD.DES. V. 7 1067 1999REFN ISSN 0969-2126PMID 10508780DOI 10.1016/S0969-2126(99)80174-9

Variant Set Distributions

ExAC Variants

Number Of Residues	260
Number Of SNVs	96
Number Of Permutations	14326
Optimal Distance Threshold	12.0
K Statistic	0.114
p-value	0.814

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:1872964		V>I	A:3	(-4.61, 84.50, 48.10)
16:1872954		L>P	A:6	(-9.35, 76.73, 46.74)
16:1872940	rs572685524	D>N	A:11	(-5.46, 66.86, 52.87)
16:1872931		M>V	A:14	(-6.39, 74.48, 45.13)
16:1872925	COSM77831 COSM3506580 COSM3506579	L>V	A:16	(-7.08, 81.91, 42.97)
16:1872907		T>S	A:22	(-5.50, 93.18, 35.51)
16:1872900		E>G	A:24	(-5.07, 88.96, 34.68)
16:1872901	rs143289307	E>K	A:24	(-5.07, 88.96, 34.68)
16:1872890		I>M	A:27	(-4.24, 78.02, 39.72)
16:1872882		P>L	A:30	(-4.98, 72.61, 39.35)
16:1872880		V>L	A:31	(-6.51, 68.66, 41.44)
16:1872869	rs533765432	Q>H	A:34	(-15.34, 72.99, 37.52)
16:1872362		V>M	A:37	(-13.87, 77.64, 36.82)
16:1872355	rs201035358 COSM1209277	A>V	A:39	(-13.72, 80.80, 41.72)
16:1872356		A>T	A:39	(-13.72, 80.80, 41.72)
16:1872352		A>V	A:40	(-13.00, 82.74, 38.86)
16:1872353	rs375367330	A>S	A:40	(-13.00, 82.74, 38.86)
16:1872349		R>K	A:41	(-16.85, 81.36, 36.09)
16:1872341	rs371060768	G>R	A:44	(-14.07, 88.19, 38.14)
16:1872328	rs202126368	T>S	A:48	(-3.75, 83.49, 32.64)
16:1872304		H>P	A:56	(3.52, 63.94, 43.20)
16:1870012		D>E	A:58	(-1.86, 65.53, 44.86)
16:1870014		D>H	A:58	(-1.86, 65.53, 44.86)
16:1870011		H>D	A:59	(-0.11, 68.62, 43.90)
16:1870008		A>T	A:60	(-0.86, 67.74, 38.47)
16:1870002	COSM3690795 COSM3690794	G>R	A:62	(-5.65, 68.66, 36.40)
16:1869987	rs114352351	V>I	A:67	(-5.98, 72.61, 29.13)
16:1869974	rs115389912	S>L	A:71	(-8.10, 78.43, 26.02)
16:1869957	rs578067137	G>R	A:77	(7.23, 73.88, 35.38)
16:1869948		D>N	A:80	(9.35, 66.90, 31.75)
16:1869944	rs141056839	R>H	A:81	(7.79, 63.54, 36.25)
16:1869945		R>C	A:81	(7.79, 63.54, 36.25)
16:1869936		A>S	A:84	(0.33, 70.40, 30.06)
16:1869929		T>S	A:86	(3.56, 75.63, 28.08)
16:1869921		I>V	A:89	(10.53, 76.74, 34.84)
16:1869918	rs373374767	T>A	A:90	(14.65, 76.86, 36.40)
16:1869913		H>Q	A:91	(16.77, 78.62, 40.78)
16:1869914		H>R	A:91	(16.77, 78.62, 40.78)
16:1869217		S>F	A:99	(0.97, 93.43, 38.11)
16:1869214		L>P	A:100	(1.58, 90.14, 40.18)
16:1869197		A>T	A:106	(14.59, 75.25, 43.21)
16:1869190		P>Q	A:108	(15.44, 69.89, 45.05)
16:1869191		P>S	A:108	(15.44, 69.89, 45.05)
16:1869185		H>Y	A:110	(8.64, 65.41, 47.79)
16:1869181	rs375108482	T>I	A:111	(10.37, 65.94, 43.74)
16:1869182		T>A	A:111	(10.37, 65.94, 43.74)
16:1869169		I>T	A:115	(9.29, 74.67, 41.63)
16:1869160	rs543397748	F>S	A:118	(8.57, 85.19, 45.97)
16:1869158	rs143832024	V>M	A:119	(4.31, 86.15, 44.60)
16:1869139		S>L	A:125	(2.33, 97.61, 49.97)
16:1869128		A>T	A:129	(4.06, 85.01, 48.71)
16:1869124	rs114353102	V>A	A:130	(5.77, 81.25, 49.26)
16:1869125	rs200743955	V>M	A:130	(5.77, 81.25, 49.26)
16:1869118		T>I	A:132	(5.69, 75.60, 49.50)
16:1867248		C>S	A:141	(8.51, 68.38, 55.68)
16:1867239		F>Y	A:144	(13.39, 63.35, 52.45)
16:1867237		Y>H	A:145	(8.74, 60.15, 48.50)
16:1867234	rs139058173	E>K	A:146	(12.75, 61.99, 44.09)
16:1867228	rs377263158	T>A	A:148	(19.11, 64.11, 50.29)
16:1867224	rs150713216	A>G	A:149	(19.24, 65.75, 53.88)
16:1867215		M>T	A:152	(15.10, 69.52, 52.68)
16:1867216	rs371402818	M>V	A:152	(15.10, 69.52, 52.68)
16:1867210		K>E	A:154	(20.76, 73.17, 50.50)
16:1867197		E>V	A:158	(20.34, 77.96, 51.75)
16:1867194		V>A	A:159	(16.08, 78.72, 49.05)
16:1867195	rs562914647	V>F	A:159	(16.08, 78.72, 49.05)
16:1867185	rs147193178	R>Q	A:162	(19.16, 82.88, 52.51)
16:1867186	rs148679753	R>W	A:162	(19.16, 82.88, 52.51)
16:1867180		P>S	A:164	(11.33, 87.86, 53.18)
16:1866994		R>T	A:168	(2.54, 86.16, 54.59)
16:1866992	rs181023924	V>I	A:169	(3.68, 80.00, 54.00)
16:1866983		G>C	A:172	(-0.38, 71.69, 50.13)
16:1866975		E>D	A:174	(-4.21, 71.01, 56.78)
16:1866967	rs201832789	I>T	A:177	(-2.79, 69.22, 64.12)
16:1866962		N>D	A:179	(3.18, 68.61, 61.51)
16:1866955		K>M	A:181	(0.64, 66.10, 67.72)
16:1866951		F>L	A:182	(7.46, 65.04, 65.34)
16:1866946	rs138102620	R>H	A:184	(4.09, 67.81, 71.65)
16:1866947	rs375237169	R>C	A:184	(4.09, 67.81, 71.65)
16:1866941	rs560350072	V>M	A:186	(11.52, 67.15, 69.02)
16:1866938		E>K	A:187	(11.39, 71.28, 70.68)
16:1866932	rs146616406	G>S	A:189	(9.78, 73.32, 75.76)
16:1866928		N>S	A:190	(8.80, 75.09, 72.04)
16:1866923		A>T	A:192	(5.47, 77.98, 70.06)
16:1866916		R>Q	A:194	(3.34, 74.83, 74.50)
16:1866917	rs563988047	R>W	A:194	(3.34, 74.83, 74.50)
16:1859827		Y>C	A:204	(-9.85, 70.21, 62.21)
16:1859819	rs138163037	G>R	A:207	(-13.07, 75.36, 59.16)
16:1859812		P>R	A:209	(-7.73, 77.39, 56.80)
16:1859792		A>T	A:216	(8.99, 83.80, 61.20)
16:1859785		E>V	A:218	(7.56, 78.00, 60.22)
16:1859770		P>R	A:223	(11.25, 70.72, 63.35)
16:1859763		M>I	A:225	(13.19, 75.52, 59.42)
16:1859760		R>S	A:226	(14.14, 75.09, 65.41)
16:1859375	rs191499893	T>M	A:231	(16.98, 71.67, 71.29)
16:1859361		A>T	A:236	(19.03, 63.40, 67.40)
16:1859345	rs140613961	P>L	A:241	(22.67, 70.49, 60.44)
16:1859342	rs151314474	V>A	A:242	(22.81, 67.28, 57.52)
16:1859333		M>T	A:245	(17.15, 67.01, 58.44)
16:1859330	COSM1301674	R>Q	A:246	(20.22, 62.01, 57.53)
16:1859327		A>V	A:247	(17.10, 61.78, 62.02)
16:1859328		A>S	A:247	(17.10, 61.78, 62.02)
16:1859324		V>A	A:248	(14.11, 64.29, 62.49)
16:1859322		R>C	A:249	(11.26, 62.92, 57.84)
16:1859314		E>D	A:251	(11.70, 60.23, 64.63)
16:1859313	rs375109266	K>E	A:252	(7.55, 62.47, 61.01)
16:1859310	rs141371739	D>N	A:253	(8.99, 58.57, 58.31)
16:1859305	COSM1578775 COSM1578774	Q>H	A:254	(9.16, 55.28, 62.16)
16:1859299		K>N	A:256	(2.12, 55.76, 67.37)
16:1859294		P>L	A:258	(-0.56, 61.43, 69.36)
16:1859292		R>W	A:259	(-7.18, 60.41, 70.78)