2WNS.A | UMPS – ASTRID

2WNS.A | UMPS

General Structure Information

PDB ID	2wns
HGNC Gene Label(s)	UMPS
Structure Name	human orotate phosphoribosyltransferase (oprtase) domain of uridine 5-monophosphate synthase (umps) in complex with its substrate orotidine 5-monophosphate (omp)
Resolution	1.9Å
Reference	AUTH M.MOCHE,A.ROOS,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTYENOVA,A.KOTZCH,T.K.NIELSEN,T.NYMAN,C.PERSSON,AUTH 5 J.SAGEMARK,H.SCHUELER,P.SCHUTZ,M.I.SIPONEN,AUTH 6 L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,S.VANDENBERG,AUTH 7 J.WEIGELT,M.WELIN,M.WISNIEWSKA,P.NORDLUNDTITL HUMAN OROTATE PHOSPHORIBOSYLTRANSFERASE (OPRTASE)TITL 2 DOMAIN OF URIDINE 5-MONOPHOSPHATE SYNTHASE (UMPS)TITL 3 IN COMPLEX WITH ITS SUBSTRATE OROTIDINE 5-TITL 4 MONOPHOSPHATE (OMP)REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	197
Number Of SNVs	42
Number Of Permutations	6041
Optimal Distance Threshold	5.0
K Statistic	0.012
p-value	0.869

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
3:124449337		A>P	A:7	(48.05, 7.26, 34.44)
3:124449338		A>G	A:7	(48.05, 7.26, 34.44)
3:124449342	rs373254902	L>F	A:8	(45.72, 8.19, 31.16)
3:124449344		G>A	A:9	(44.82, 3.74, 31.72)
3:124449359		G>A	A:14	(37.58, 3.13, 35.42)
3:124449391		D>N	A:25	(21.91, 8.63, 18.26)
3:124449404		K>T	A:29	(24.74, 21.38, 25.65)
3:124449406	rs17843776	S>G	A:30	(25.84, 21.75, 20.43)
3:124449416		S>F	A:33	(24.96, 14.41, 16.12)
3:124449458	rs377329530	P>Q	A:47	(35.14, 6.31, 46.05)
3:124449463		L>I	A:49	(37.46, 7.02, 40.06)
3:124449466		L>V	A:50	(35.96, 11.10, 42.95)
3:124453950		I>T	A:56	(44.68, 14.03, 37.16)
3:124453994	rs150877812	V>M	A:71	(38.02, 26.76, 42.50)
3:124454055		I>T	A:91	(41.39, 25.72, 47.69)
3:124454069	rs121917890	R>G	A:96	(26.85, 29.01, 37.88)
3:124456423	rs145382799	R>C	A:107	(22.03, 38.31, 41.98)
3:124456424	rs142349403	R>H	A:107	(22.03, 38.31, 41.98)
3:124456441		I>V	A:113	(33.11, 37.39, 45.44)
3:124456443		I>M	A:113	(33.11, 37.39, 45.44)
3:124456446		N>K	A:114	(37.55, 38.94, 46.81)
3:124456447		P>S	A:115	(37.07, 41.80, 43.51)
3:124456468		I>V	A:122	(37.09, 22.52, 37.38)
3:124456484		T>S	A:127	(32.39, 19.93, 22.94)
3:124456487		S>T	A:128	(32.01, 23.97, 22.11)
3:124456493		S>Y	A:130	(29.87, 27.12, 25.45)
3:124456510		V>L	A:136	(33.97, 32.45, 32.44)
3:124456511		V>A	A:136	(33.97, 32.45, 32.44)
3:124456523		Q>L	A:140	(34.75, 37.56, 33.77)
3:124456532		G>D	A:143	(35.54, 40.60, 39.07)
3:124456553		I>T	A:150	(41.31, 22.25, 34.22)
3:124456555		V>M	A:151	(39.02, 19.40, 31.13)
3:124456598	rs368442688	A>V	A:165	(39.01, 33.86, 21.80)
3:124456603	rs184856674	G>R	A:167	(41.16, 34.27, 27.42)
3:124456609	rs536117596 COSM1037573	R>C	A:169	(45.45, 29.79, 29.88)
3:124456610	rs374772684	R>H	A:169	(45.45, 29.79, 29.88)
3:124456622	rs551304797	V>A	A:173	(43.62, 15.07, 31.41)
3:124456626	rs571393202	C>W	A:174	(42.37, 13.36, 27.86)
3:124456628		T>I	A:175	(42.04, 13.67, 24.17)
3:124456637		K>R	A:178	(45.00, 8.85, 24.12)
3:124456654	COSM3660151	E>K	A:184	(41.38, -0.17, 20.14)
3:124456658	rs368167887	Q>R	A:185	(45.54, -1.55, 23.98)
3:124456660		Q>E	A:186	(43.12, -2.19, 27.29)
3:124456661		Q>R	A:186	(43.12, -2.19, 27.29)
3:124456663		K>E	A:187	(40.83, -5.49, 23.68)
3:124456685		V>A	A:194	(37.19, 3.66, 17.20)
3:124456696		K>E	A:198	(38.13, 8.76, 15.14)
3:124456700		R>K	A:199	(34.32, 7.57, 9.88)