2IBN.A | MIOX – ASTRID

2IBN.A | MIOX

General Structure Information

PDB ID	2ibn
HGNC Gene Label(s)	MIOX
Structure Name	crystal structure of human myo-inositol oxygenase (miox)
Resolution	1.5Å
Reference	AUTH A.G.THORSELL,C.PERSSON,N.VOEVODSKAYA,R.D.BUSAM,AUTH 2 M.HAMMARSTROM,S.GRASLUND,A.GRASLUND,B.M.HALLBERGTITL STRUCTURAL AND BIOPHYSICAL CHARACTERIZATION OFTITL 2 HUMAN MYO-INOSITOL OXYGENASEREF J.BIOL.CHEM. V. 283 15209 2008REFN ISSN 0021-9258PMID 18364358DOI 10.1074/JBC.M800348200

Variant Set Distributions

ExAC Variants

Number Of Residues	230
Number Of SNVs	89
Number Of Permutations	12797
Optimal Distance Threshold	7.0
K Statistic	0.03
p-value	0.94

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
22:50926106		D>N	A:38	(16.91, 35.43, 18.24)
22:50926109	rs375419173	R>C	A:39	(11.78, 31.17, 17.89)
22:50926110		R>H	A:39	(11.78, 31.17, 17.89)
22:50926116	rs149909007	F>S	A:41	(14.90, 38.04, 23.40)
22:50926118		T>A	A:42	(11.14, 37.55, 20.28)
22:50926127		K>E	A:45	(10.49, 42.01, 23.64)
22:50926138		H>Q	A:48	(8.14, 40.19, 29.39)
22:50926140	rs554830267	T>M	A:49	(5.43, 44.28, 26.08)
22:50926143		H>R	A:50	(2.04, 43.07, 24.73)
22:50926160		V>I	A:56	(-4.53, 38.60, 32.32)
22:50926325	rs142172208	F>S	A:63	(-9.86, 31.58, 26.77)
22:50926327		G>R	A:64	(-14.10, 31.08, 30.94)
22:50926331		G>A	A:65	(-16.32, 29.26, 29.12)
22:50926337	rs146070984	S>F	A:67	(-16.56, 27.58, 24.15)
22:50926340		Y>C	A:68	(-12.44, 28.60, 22.00)
22:50926354		V>F	A:73	(-7.29, 14.22, 27.15)
22:50926366	rs201271118	V>M	A:77	(-2.20, 14.81, 23.29)
22:50926370		D>A	A:78	(-3.10, 13.71, 19.34)
22:50926397	rs201562892	S>L	A:87	(10.20, 28.97, 24.66)
22:50926413		D>E	A:92	(12.31, 20.87, 18.98)
22:50926421	rs143644056	N>S	A:95	(4.46, 19.45, 23.21)
22:50926433		A>G	A:99	(3.65, 14.31, 27.27)
22:50926445	COSM1035474	A>V	A:103	(4.85, 10.59, 32.05)
22:50926457	COSM3555774 COSM3555775	R>Q	A:107	(5.10, 4.67, 34.43)
22:50926462		A>T	A:109	(10.23, 7.37, 39.79)
22:50926466	rs199999247	H>R	A:110	(7.31, 8.52, 41.29)
22:50926476	rs370341191	K>N	A:113	(2.28, 7.05, 43.00)
22:50926707		W>S	A:115	(-1.08, 11.43, 41.39)
22:50926708		W>C	A:115	(-1.08, 11.43, 41.39)
22:50926712		H>Y	A:117	(2.17, 8.21, 36.24)
22:50926718	rs377490127	V>I	A:119	(0.51, 15.25, 35.96)
22:50926721		G>R	A:120	(2.61, 14.65, 32.66)
22:50926731	rs201488910	H>R	A:123	(2.62, 19.44, 31.73)
22:50926733		D>N	A:124	(2.33, 21.35, 28.61)
22:50926748		L>M	A:129	(-4.45, 28.38, 24.05)
22:50926751	COSM479130	A>T	A:130	(-2.20, 27.89, 19.88)
22:50926760	rs140970258	G>R	A:133	(-4.95, 31.61, 17.90)
22:50926765	rs145065111	E>D	A:134	(-3.98, 32.76, 21.24)
22:50927472		A>T	A:138	(-0.07, 33.85, 25.25)
22:50927475		V>I	A:139	(0.66, 29.99, 25.24)
22:50927478	rs146378961	V>I	A:140	(4.50, 29.49, 25.76)
22:50927481	rs138317519	G>S	A:141	(6.54, 30.05, 29.22)
22:50927484	rs200602157	D>N	A:142	(9.12, 31.16, 32.03)
22:50927493		P>S	A:145	(3.91, 38.05, 38.68)
22:50927496		V>I	A:146	(0.69, 40.55, 36.64)
22:50927499		G>R	A:147	(1.03, 43.92, 39.25)
22:50927503	rs149650098	C>Y	A:148	(4.19, 43.38, 40.32)
22:50927505	rs144424314	R>C	A:149	(9.24, 46.10, 40.95)
22:50927506		R>H	A:149	(9.24, 46.10, 40.95)
22:50927509		P>L	A:150	(9.50, 42.82, 37.45)
22:50927521		V>A	A:154	(12.23, 37.44, 35.20)
22:50927532	rs147169238	D>N	A:158	(17.62, 43.80, 32.32)
22:50927533		D>V	A:158	(17.62, 43.80, 32.32)
22:50927535		S>A	A:159	(15.94, 43.22, 27.86)
22:50927545	rs199992260	Q>L	A:162	(11.71, 48.17, 27.83)
22:50927546		Q>H	A:162	(11.71, 48.17, 27.83)
22:50927549		D>E	A:163	(7.81, 48.94, 25.75)
22:50927553		P>S	A:165	(2.34, 49.65, 30.15)
22:50927563	rs199910961	Q>R	A:168	(5.30, 54.72, 33.96)
22:50927572	rs140441485	R>Q	A:171	(-2.45, 50.79, 39.86)
22:50927659	rs144406186	T>K	A:174	(5.57, 48.62, 43.35)
22:50927661		E>Q	A:175	(7.97, 44.98, 46.44)
22:50927667	rs562285700	G>R	A:177	(1.63, 46.43, 44.25)
22:50927682	rs375486206	H>N	A:182	(3.24, 37.45, 53.03)
22:50927689	rs200375123	G>E	A:184	(-0.51, 33.89, 47.95)
22:50927835	rs533819790	Y>C	A:199	(-6.33, 25.51, 38.02)
22:50927855	rs147831300	K>E	A:206	(-15.68, 18.64, 37.88)
22:50927871	rs145165581	P>R	A:211	(-4.69, 18.90, 45.63)
22:50927966	rs533204395	F>L	A:214	(-5.51, 20.60, 40.20)
22:50927976	rs149138591	R>W	A:218	(-2.43, 27.53, 39.28)
22:50927977	rs200935523	R>Q	A:218	(-2.43, 27.53, 39.28)
22:50927979		F>I	A:219	(1.75, 27.79, 40.19)
22:50927982		H>Y	A:220	(4.64, 24.22, 35.12)
22:50927986		S>F	A:221	(6.13, 27.90, 34.40)
22:50927994		P>S	A:224	(10.79, 33.01, 39.07)
22:50927995		P>L	A:224	(10.79, 33.01, 39.07)
22:50928004		T>M	A:227	(14.41, 28.03, 40.49)
22:50928007	rs138865893	G>D	A:228	(14.90, 31.83, 42.05)
22:50928009	rs140627421	R>C	A:229	(13.27, 30.65, 45.89)
22:50928010	rs143037340	R>H	A:229	(13.27, 30.65, 45.89)
22:50928012	rs41280567	D>N	A:230	(12.52, 35.61, 43.42)
22:50928016		Y>C	A:231	(8.21, 37.14, 42.79)
22:50928027	COSM1417136	C>R	A:235	(4.61, 33.49, 49.31)
22:50928028	rs78505518	C>Y	A:235	(4.61, 33.49, 49.31)
22:50928034		Q>R	A:237	(3.09, 27.85, 55.23)
22:50928039		D>N	A:239	(2.96, 28.46, 48.50)
22:50928041	COSM4105197	D>E	A:239	(2.96, 28.46, 48.50)
22:50928057	rs150694066	W>R	A:245	(4.36, 17.27, 45.84)
22:50928063		R>W	A:247	(12.36, 21.99, 43.20)
22:50928064	rs556477098	R>Q	A:247	(12.36, 21.99, 43.20)
22:50928069		F>I	A:249	(6.63, 18.21, 37.32)
22:50928179	rs200973608	K>R	A:251	(13.39, 16.23, 38.71)
22:50928180		K>N	A:251	(13.39, 16.23, 38.71)
22:50928184		D>N	A:253	(9.35, 19.33, 32.45)
22:50928214	rs147152075	D>H	A:263	(7.86, 4.01, 21.53)
22:50928217	rs200391259	V>M	A:264	(3.64, 7.06, 21.53)
22:50928224		K>R	A:266	(3.81, 0.57, 22.40)
22:50928230	rs140377157	R>Q	A:268	(-2.44, 6.21, 22.63)
22:50928236		Y>S	A:270	(-1.11, 3.49, 31.73)
22:50928238		Y>H	A:271	(-0.70, 7.18, 29.93)
22:50928262		C>R	A:279	(-10.28, 12.72, 32.99)