2XRF.C | UPP2 – ASTRID

2XRF.C | UPP2

General Structure Information

PDB ID	2xrf
HGNC Gene Label(s)	UPP2
Structure Name	crystal structure of human uridine phosphorylase 2
Resolution	2.3Å
Reference	AUTH M.WELIN,M.MOCHE,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,S.KOL,T.KOTENYOVA,AUTH 4 E.KOUZNETSOVA,T.NYMAN,C.PERSSON,H.SCHULER,P.SCHUTZ,AUTH 5 M.I.SIPONEN,A.G.THORSELL,L.TRESAUGUES,S.VAN DER BERG,AUTH 6 E.WAHLBERG,J.WEIGELT,P.NORDLUNDTITL CRYSTAL STRUCTURE OF HUMAN URIDINE PHOSPHORYLASE 2REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	286
Number Of SNVs	78
Number Of Permutations	39022
Optimal Distance Threshold	10.0
K Statistic	0.058
p-value	0.744

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:158962616		R>M	C:23	(0.36, -80.67, 41.86)
2:158962617		R>S	C:23	(0.36, -80.67, 41.86)
2:158962627	rs146983869	V>I	C:27	(-2.32, -77.87, 29.13)
2:158962655		D>A	C:36	(5.88, -80.29, 14.55)
2:158962659		E>D	C:37	(7.93, -76.12, 16.53)
2:158962683	rs377159824	L>F	C:45	(12.09, -69.96, 24.95)
2:158962687	rs550400219	T>A	C:47	(10.37, -77.27, 21.85)
2:158962694	rs141794444	T>K	C:49	(15.53, -73.92, 20.44)
2:158962696		H>Y	C:50	(15.56, -73.95, 24.02)
2:158962697		H>R	C:50	(15.56, -73.95, 24.02)
2:158962698	rs149571410	H>Q	C:50	(15.56, -73.95, 24.02)
2:158962712	rs374018334	M>T	C:55	(16.28, -75.55, 31.02)
2:158962718	COSM3568200 COSM3568199	G>E	C:57	(12.07, -79.95, 35.87)
2:158962724	rs146852799	V>A	C:59	(10.95, -75.93, 38.82)
2:158971620	rs369786499	C>Y	C:63	(8.55, -65.89, 41.67)
2:158971625	COSM4085824 COSM4085823	G>S	C:65	(6.94, -59.88, 38.84)
2:158971626	rs373160807	G>D	C:65	(6.94, -59.88, 38.84)
2:158971634		P>S	C:68	(12.86, -56.54, 35.60)
2:158971639		N>K	C:69	(15.73, -54.54, 38.01)
2:158971645		M>I	C:71	(12.35, -60.54, 39.99)
2:158971664	rs7561584	M>L	C:78	(16.48, -67.01, 47.12)
2:158971676	rs370910787	L>F	C:82	(18.75, -71.49, 49.02)
2:158971679	rs147784693	G>R	C:83	(23.34, -71.63, 50.10)
2:158971680		G>E	C:83	(23.34, -71.63, 50.10)
2:158971706		K>Q	C:92	(23.60, -65.24, 33.47)
2:158971733		Y>H	C:101	(8.31, -61.20, 29.57)
2:158971737		C>Y	C:102	(13.09, -61.62, 33.16)
2:158971751	COSM3406962 COSM3406961	G>R	C:107	(17.41, -74.17, 41.57)
2:158971760	COSM4085830 COSM4085829	L>I	C:110	(11.77, -69.77, 38.06)
2:158971763		A>T	C:111	(12.43, -65.76, 38.52)
2:158974349	rs200975180	I>T	C:118	(-4.63, -58.64, 33.23)
2:158974375	COSM3568202 COSM3568201	E>K	C:127	(4.42, -68.37, 26.69)
2:158974385	rs561347081	K>R	C:130	(2.91, -73.79, 26.83)
2:158974396		H>D	C:134	(6.53, -78.60, 26.93)
2:158974402		R>W	C:136	(8.30, -83.88, 31.60)
2:158974408		C>R	C:138	(5.77, -81.58, 39.59)
2:158974424		I>T	C:143	(4.24, -66.85, 44.74)
2:158974432	COSM673627	G>S	C:146	(4.38, -57.02, 45.17)
2:158974444		G>R	C:150	(-4.45, -49.68, 50.58)
2:158974447		I>V	C:151	(-8.31, -50.19, 51.59)
2:158977924	rs146063120	I>T	C:153	(-4.16, -51.25, 55.64)
2:158977945		I>T	C:160	(-1.55, -63.10, 52.21)
2:158977948	COSM3568204 COSM3568203	T>M	C:161	(-4.61, -62.93, 48.40)
2:158977950		D>Y	C:162	(-8.30, -64.67, 50.35)
2:158977954	rs565665420	I>T	C:163	(-10.72, -64.01, 47.57)
2:158977969		F>C	C:168	(-18.17, -54.41, 39.74)
2:158977977		P>A	C:171	(-15.42, -63.59, 42.83)
2:158977980		R>W	C:172	(-16.40, -61.27, 38.15)
2:158977981		R>Q	C:172	(-16.40, -61.27, 38.15)
2:158978007		I>F	C:181	(-18.68, -63.08, 27.82)
2:158978008		I>T	C:181	(-18.68, -63.08, 27.82)
2:158978038		E>A	C:191	(-4.06, -75.60, 52.63)
2:158978040	rs375495894	L>M	C:192	(-0.45, -71.63, 49.99)
2:158978055		F>L	C:197	(-0.76, -65.53, 58.46)
2:158978064		S>C	C:200	(4.34, -64.22, 58.74)
2:158978085	rs147775009	P>S	C:207	(3.25, -56.06, 58.96)
2:158978089	rs146951141	T>N	C:208	(0.84, -59.79, 57.76)
2:158978094	rs140823834	V>I	C:210	(-5.37, -62.87, 55.10)
2:158978095		V>A	C:210	(-5.37, -62.87, 55.10)
2:158978101	rs576371075	H>R	C:212	(-10.74, -60.13, 50.07)
2:158978104		T>K	C:213	(-7.01, -58.49, 46.26)
2:158978106		M>V	C:214	(-9.54, -54.61, 43.81)
2:158980275		D>H	C:227	(-3.55, -38.45, 40.20)
2:158980276	rs551527386	D>G	C:227	(-3.55, -38.45, 40.20)
2:158980296		S>P	C:234	(-15.65, -36.87, 43.43)
2:158980303	COSM1400295	E>G	C:236	(-18.42, -37.68, 48.09)
2:158980329		A>S	C:245	(-14.30, -52.10, 49.35)
2:158980348	rs566844935	R>T	C:251	(-8.84, -55.02, 53.50)
2:158980354		I>T	C:253	(-5.86, -52.01, 45.07)
2:158980381	rs534154153	A>G	C:262	(-7.61, -68.24, 36.85)
2:158980384	rs148126775	M>T	C:263	(-4.41, -68.87, 33.99)
2:158980389	rs181975602	G>R	C:265	(-5.85, -73.28, 38.79)
2:158980402		L>R	C:269	(-0.15, -74.12, 39.25)
2:158991275		V>E	C:276	(3.57, -54.46, 49.83)
2:158991286	rs373232429	D>N	C:280	(-4.17, -45.75, 53.11)
2:158991295	rs371644480	D>N	C:283	(-5.15, -41.15, 53.39)
2:158991311		N>S	C:288	(5.53, -39.27, 48.78)
2:158991314		L>S	C:289	(7.54, -43.32, 50.07)
2:158991317		P>L	C:290	(11.06, -42.27, 51.67)
2:158991320		H>L	C:291	(15.03, -44.98, 47.92)
2:158991345		Q>H	C:299	(13.30, -55.69, 50.19)
2:158991346	rs144945330	R>W	C:300	(8.25, -55.62, 54.32)
2:158991347		R>Q	C:300	(8.25, -55.62, 54.32)
2:158991368		N>S	C:307	(10.27, -68.37, 55.66)
2:158991373		I>V	C:309	(11.26, -71.52, 49.64)
2:158991379		R>W	C:311	(8.16, -74.95, 56.31)
2:158991382	rs560916486	R>W	C:312	(7.29, -76.30, 51.25)
2:158991383		R>Q	C:312	(7.29, -76.30, 51.25)
2:158991385	rs200491821	L>V	C:313	(13.65, -76.99, 50.68)