3QC3.B | RPE – ASTRID

3QC3.B | RPE

General Structure Information

PDB ID	3qc3
HGNC Gene Label(s)	RPE
Structure Name	crystal structure of a d-ribulose-5-phosphate-3-epimerase (np_954699) from homo sapiens at 2.20 a resolution
Resolution	2.2Å
Reference	AUTH JOINT CENTER FOR STRUCTURAL GENOMICS (JCSG)TITL CRYSTAL STRUCTURE OF A D-RIBULOSE-5-PHOSPHATE-3-EPIMERASETITL 2 (NP_954699) FROM HOMO SAPIENS AT 2.20 A RESOLUTIONREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	209
Number Of SNVs	44
Number Of Permutations	3301
Optimal Distance Threshold	6.0
K Statistic	0.026
p-value	0.889

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:210867410		P>S	B:9	(-4.38, 19.58, 252.28)
2:210867413		S>A	B:10	(-5.57, 17.12, 248.73)
2:210867416	rs578035959	I>V	B:11	(-1.78, 16.68, 246.57)
2:210867426		S>I	B:14	(-1.16, 19.41, 242.25)
2:210867429	rs62001902	D>G	B:15	(2.29, 20.72, 239.55)
2:210867430		D>E	B:15	(2.29, 20.72, 239.55)
2:210867434		A>T	B:17	(6.05, 18.40, 238.64)
2:210867438		N>S	B:18	(6.52, 21.51, 241.72)
2:210867444		G>E	B:20	(7.07, 20.30, 246.99)
2:210867446	rs372457623	A>S	B:21	(6.39, 23.35, 246.11)
2:210867447		A>V	B:21	(6.39, 23.35, 246.11)
2:210867458		R>W	B:25	(0.93, 26.79, 247.97)
2:210867476		A>P	B:31	(-1.52, 23.21, 257.02)
2:210867506		G>R	B:41	(-4.77, 0.12, 240.09)
2:210874383	rs370264879	H>R	B:42	(-4.99, -3.27, 240.95)
2:210874401		T>S	B:48	(-1.03, 8.13, 242.17)
2:210874412		P>S	B:52	(9.34, 6.43, 246.10)
2:210874436		Q>E	B:60	(12.01, 19.28, 249.82)
2:210874439	rs536194013	L>V	B:61	(9.41, 19.25, 253.32)
2:210880738		P>T	B:82	(7.98, 0.62, 252.72)
2:210880747	rs368527143	V>I	B:85	(11.66, 3.97, 255.51)
2:210880810	rs141547011	K>E	B:106	(-0.17, -4.15, 265.09)
2:210880819	rs138496299	R>W	B:109	(0.34, 1.47, 266.30)
2:210880825	rs143038542	N>H	B:111	(6.77, -0.01, 261.47)
2:210881256		T>I	B:123	(-18.79, 0.24, 253.78)
2:210881258		S>P	B:124	(-21.27, -0.15, 257.16)
2:210881261	rs372582535	V>F	B:125	(-20.29, 2.70, 259.98)
2:210881266	rs375869678	E>D	B:126	(-22.27, -0.45, 261.83)
2:210881293		I>M	B:135	(-7.96, 3.66, 265.28)
2:210881294		D>N	B:136	(-4.96, 7.14, 265.78)
2:210881321		P>A	B:145	(-12.77, 5.78, 245.43)
2:210881322	rs370757730	P>L	B:145	(-12.77, 5.78, 245.43)
2:210881325		G>A	B:146	(-10.91, 6.84, 241.44)
2:210881348		E>Q	B:154	(-25.83, 15.31, 251.32)
2:210881352	rs201632661	D>V	B:155	(-25.72, 9.80, 251.51)
2:210882217		Q>H	B:166	(-21.35, 5.27, 269.39)
2:210882243		D>V	B:175	(-11.81, 12.17, 251.50)
2:210882251		V>I	B:178	(-14.67, 18.54, 251.12)
2:210882254	rs149656701	G>C	B:179	(-15.64, 22.39, 251.07)
2:210882266		V>L	B:183	(-17.54, 22.32, 255.77)
2:210882267	rs368588776	V>A	B:183	(-17.54, 22.32, 255.77)
2:210882282		E>V	B:188	(-23.25, 20.61, 261.41)
2:210884421		S>N	B:198	(-9.40, 22.10, 244.35)
2:210884426		I>V	B:200	(-7.16, 24.61, 249.23)
2:210884428		I>M	B:200	(-7.16, 24.61, 249.23)
2:210884460		N>S	B:211	(-8.28, 29.87, 258.15)
2:210884478	rs147608388	C>F	B:217	(-14.92, 22.70, 262.22)
2:210884484		E>A	B:219	(-18.28, 27.62, 264.53)
2:210884498		R>C	B:224	(-19.21, 18.56, 269.50)
2:210884499		R>H	B:224	(-19.21, 18.56, 269.50)