1Y8R.A | SAE1 – ASTRID

1Y8R.A | SAE1

General Structure Information

PDB ID	1y8r
HGNC Gene Label(s)	SAE1
Structure Name	sumo e1 activating enzyme sae1-sae2-sumo1-mg-atp complex
Resolution	2.75Å
Reference	AUTH L.M.LOIS,C.D.LIMATITL STRUCTURES OF THE SUMO E1 PROVIDE MECHANISTICTITL 2 INSIGHTS INTO SUMO ACTIVATION AND E2 RECRUITMENTTITL 3 TO E1REF EMBO J. V. 24 439 2005REFN ISSN 0261-4189PMID 15660128DOI 10.1038/SJ.EMBOJ.7600552

Variant Set Distributions

ExAC Variants

Number Of Residues	314
Number Of SNVs	80
Number Of Permutations	14593
Optimal Distance Threshold	15.0
K Statistic	0.152
p-value	0.516

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
19:47646779	rs199801330	G>S	A:43	(43.29, 59.15, 60.33)
19:47646798	rs200195395	A>D	A:49	(37.62, 53.35, 60.89)
19:47646819	rs138103448	I>S	A:56	(41.15, 45.73, 65.79)
19:47646845	rs369284296	M>L	A:65	(44.05, 55.44, 66.67)
19:47646851	rs369223748	D>N	A:67	(43.73, 62.45, 64.71)
19:47646854		H>N	A:68	(45.58, 67.05, 64.95)
19:47646857	rs180956905	E>K	A:69	(41.77, 67.10, 63.14)
19:47646858	rs373756791	E>A	A:69	(41.77, 67.10, 63.14)
19:47653460		V>A	A:71	(35.00, 65.63, 66.71)
19:47653465		P>S	A:73	(30.24, 68.38, 63.18)
19:47653474	rs548189786	P>A	A:76	(28.09, 61.07, 63.78)
19:47653477		G>R	A:77	(27.02, 59.53, 60.04)
19:47653493		I>S	A:82	(32.40, 58.52, 67.13)
19:47653495	rs370359276	R>C	A:83	(29.59, 57.03, 71.30)
19:47653499		T>N	A:84	(25.80, 60.70, 69.24)
19:47653502		G>A	A:85	(28.39, 62.78, 71.83)
19:47653504		S>A	A:86	(31.61, 63.54, 70.74)
19:47653505	rs375709871	S>F	A:86	(31.61, 63.54, 70.74)
19:47653514	rs201521902	R>Q	A:89	(35.53, 64.27, 72.41)
19:47653538		E>G	A:97	(35.09, 52.83, 74.35)
19:47653541		R>Q	A:98	(32.39, 52.04, 69.68)
19:47653546		Q>E	A:100	(39.75, 48.11, 72.55)
19:47653567	rs530661925	D>N	A:107	(47.07, 47.65, 72.65)
19:47653582		T>P	A:112	(46.73, 63.65, 70.17)
19:47653587		E>D	A:113	(51.28, 65.16, 68.53)
19:47653595		E>V	A:116	(53.70, 67.55, 60.10)
19:47653597		K>E	A:117	(54.90, 68.30, 65.07)
19:47653599		K>N	A:117	(54.90, 68.30, 65.07)
19:47653619		T>I	A:124	(61.10, 53.11, 64.75)
19:47653627	rs370500609	D>N	A:127	(55.78, 46.76, 62.06)
19:47653631		A>G	A:128	(53.19, 49.61, 59.58)
19:47656176		R>G	A:136	(52.67, 65.31, 47.58)
19:47656177		R>K	A:136	(52.67, 65.31, 47.58)
19:47656178		R>S	A:136	(52.67, 65.31, 47.58)
19:47656192		K>R	A:141	(57.97, 63.42, 55.81)
19:47656194		V>I	A:142	(55.96, 59.40, 56.14)
19:47656203		I>F	A:145	(60.78, 58.52, 57.50)
19:47656223	rs139802996	I>M	A:151	(58.78, 50.91, 57.93)
19:47656230		F>L	A:154	(50.54, 50.65, 53.62)
19:47656255	rs144472452	H>R	A:162	(36.30, 57.73, 42.50)
19:47656264		T>I	A:165	(45.32, 52.17, 47.61)
19:47656273		N>S	A:168	(56.70, 51.46, 49.96)
19:47656286	rs142388056	H>Q	A:172	(57.82, 42.28, 50.45)
19:47656287	rs369574114	E>K	A:173	(61.06, 38.32, 51.40)
19:47656294	rs147934003	V>A	A:175	(55.11, 33.00, 50.98)
19:47658456		T>A	A:205	(53.93, 23.74, 47.96)
19:47658457		T>M	A:205	(53.93, 23.74, 47.96)
19:47658460	rs145637374	M>R	A:206	(56.43, 27.24, 50.80)
19:47658461	rs376143365	M>I	A:206	(56.43, 27.24, 50.80)
19:47658463		V>A	A:207	(56.98, 29.51, 46.90)
19:47673078		V>M	A:211	(58.46, 42.26, 45.26)
19:47673082		V>A	A:212	(60.75, 45.86, 44.34)
19:47673090		P>S	A:215	(59.54, 55.78, 46.01)
19:47673103	COSM1481270 COSM1481271	A>V	A:219	(54.70, 57.54, 41.87)
19:47673112		V>A	A:222	(55.62, 59.81, 36.27)
19:47673128	rs140930585	E>D	A:227	(58.79, 54.87, 24.87)
19:47673130	rs149774540	K>R	A:228	(59.19, 52.47, 29.05)
19:47673150	COSM1394873 COSM1394874	R>C	A:235	(46.47, 49.22, 29.20)
19:47673154	rs367718909	T>M	A:236	(46.50, 54.46, 32.69)
19:47673168		F>V	A:241	(45.99, 61.32, 35.77)
19:47673174	rs148961061	L>V	A:243	(45.19, 61.38, 43.37)
19:47700499		K>M	A:248	(47.41, 70.98, 43.82)
19:47700507		T>A	A:251	(48.12, 71.59, 48.84)
19:47700513		K>E	A:253	(42.59, 75.50, 49.46)
19:47700516		G>R	A:254	(42.85, 72.86, 53.52)
19:47700521		R>S	A:255	(38.81, 72.30, 51.73)
19:47700525	COSM1394875	P>A	A:257	(36.59, 68.92, 47.96)
19:47700528		S>G	A:258	(32.54, 70.73, 49.72)
19:47700541		Y>C	A:262	(29.71, 71.46, 43.18)
19:47700568		Q>R	A:271	(41.90, 75.61, 36.21)
19:47700572	rs201475653	I>M	A:272	(43.73, 72.09, 39.48)
19:47700574		R>Q	A:273	(41.74, 69.21, 34.08)
19:47700580		D>V	A:275	(47.26, 73.92, 35.89)
19:47700591		S>P	A:279	(52.77, 69.78, 33.37)
19:47700600	rs373455292	I>V	A:282	(49.17, 64.61, 29.54)
19:47700618	rs141252780	P>A	A:288	(36.89, 63.45, 32.40)
19:47700619	rs144882876	P>R	A:288	(36.89, 63.45, 32.40)
19:47700630	rs570294495	V>I	A:292	(33.62, 67.56, 38.99)
19:47700631	rs77274475	V>A	A:292	(33.62, 67.56, 38.99)
19:47706936		F>C	A:296	(32.78, 66.66, 45.91)
19:47706941	rs374397052	E>K	A:298	(33.83, 60.58, 53.35)
19:47706950		P>T	A:301	(30.02, 52.62, 50.69)
19:47706984		Q>R	A:312	(44.03, 42.09, 53.29)
19:47712429	rs553541465	R>Q	A:321	(50.53, 33.71, 53.40)
19:47712438	rs141124777	P>L	A:324	(51.81, 42.30, 47.29)
19:47712462		D>G	A:332	(34.85, 53.97, 39.89)
19:47712464		G>S	A:333	(31.66, 53.21, 41.83)
19:47712478		N>K	A:337	(36.19, 49.10, 37.87)
19:47712494		L>V	A:343	(52.64, 54.02, 38.41)