4B8Z.B | TSTA3

General Structure Information

PDB ID	4b8z
HGNC Gene Label(s)	TSTA3
Structure Name	crystal structure of human gdp-l-fucose synthase with bound nadp and gdp, rhombohedral crystal form
Resolution	2.75Å
Reference	AUTH M.VOLLMAR,T.KROJER,N.SHAFQAT,A.ROJKOVA,G.BUNKOCZI,W.W.YUE,AUTH 2 K.KAVANAGH,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,C.BOUNTRA,AUTH 3 A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN GDP-L-FUCOSE SYNTHASE WITH BOUNDTITL 2 NADP AND GDP, RHOMBOHEDRAL CRYSTAL FORMREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	313
Number Of SNVs	106
Number Of Permutations	43227
Optimal Distance Threshold	13.0
K Statistic	0.113
p-value	0.723

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
8:144698857	rs199770205	R>Q	B:9	(44.66, -12.47, -104.28)
8:144698845		T>K	B:13	(36.57, -7.73, -95.39)
8:144698840		G>S	B:15	(31.02, -7.44, -98.94)
8:144698831	rs150436642	L>M	B:18	(26.99, 0.48, -98.48)
8:144698825		G>S	B:20	(30.94, -3.87, -100.88)
8:144698821	rs140495027	K>R	B:21	(27.70, -4.52, -102.85)
8:144698811		Q>H	B:24	(30.43, -6.83, -105.37)
8:144698783		P>S	B:34	(43.82, -8.20, -116.08)
8:144698764		F>S	B:40	(33.94, -9.61, -102.61)
8:144698759	rs542893318	S>P	B:42	(30.63, -12.55, -95.01)
8:144698755		S>F	B:43	(29.66, -13.28, -91.32)
8:144698750	rs373123555	D>N	B:45	(32.43, -16.65, -95.15)
8:144698742		D>E	B:47	(33.11, -14.32, -86.54)
8:144698744		D>N	B:47	(33.11, -14.32, -86.54)
8:144698737		T>M	B:49	(35.17, -11.56, -83.55)
8:144698385		T>I	B:51	(41.23, -15.45, -83.72)
8:144698382		A>V	B:52	(40.28, -19.08, -85.56)
8:144698379		Q>R	B:53	(36.31, -18.15, -87.52)
8:144698376		T>I	B:54	(40.12, -14.86, -89.17)
8:144698373		R>H	B:55	(45.27, -17.90, -89.60)
8:144698374	rs139998516	R>C	B:55	(45.27, -17.90, -89.60)
8:144698367		L>P	B:57	(39.34, -16.78, -94.28)
8:144698347		T>A	B:64	(48.33, -10.12, -102.20)
8:144698341		V>I	B:66	(43.42, -6.63, -97.78)
8:144698332		L>F	B:69	(35.04, -2.98, -95.42)
8:144698325		A>V	B:71	(32.38, -3.41, -88.98)
8:144698323		M>V	B:72	(29.52, -2.43, -85.05)
8:144698319	rs113656512 COSM1179981	V>A	B:73	(28.33, 0.14, -88.85)
8:144698320		V>L	B:73	(28.33, 0.14, -88.85)
8:144697072		H>P	B:92	(38.14, -8.26, -80.85)
8:144697055		L>M	B:98	(45.54, -5.95, -89.43)
8:144697051		H>R	B:99	(48.68, -10.37, -86.70)
8:144697048		S>L	B:100	(45.94, -12.58, -90.25)
8:144697033		G>D	B:105	(51.90, -11.81, -96.42)
8:144697031		A>S	B:106	(50.21, -9.06, -97.15)
8:144697028	rs201411011	R>C	B:107	(51.46, -6.43, -99.62)
8:144697006		S>C	B:114	(35.32, 7.92, -90.23)
8:144697001		C>S	B:116	(33.14, 10.40, -86.86)
8:144696987	rs368180547	D>E	B:120	(34.41, 17.67, -80.86)
8:144696982	rs370639758	T>M	B:122	(38.90, 21.01, -84.36)
8:144696979		T>I	B:123	(40.09, 23.07, -86.84)
8:144696970	rs533181475	I>T	B:126	(39.30, 17.93, -90.58)
8:144696959		M>V	B:130	(43.80, 17.07, -87.53)
8:144696862		H>Q	B:132	(45.39, 10.61, -83.26)
8:144696860	rs199822261 COSM3929421	N>S	B:133	(45.02, 16.32, -82.66)
8:144696845		N>T	B:138	(30.92, 12.38, -76.12)
8:144696842		S>N	B:139	(28.35, 9.76, -79.19)
8:144696839	rs150279875	N>S	B:140	(31.06, 8.26, -81.77)
8:144696836		F>S	B:141	(33.40, 6.65, -76.74)
8:144696827	COSM1096985	S>L	B:144	(35.98, 6.63, -82.96)
8:144696818		K>R	B:147	(37.90, 2.77, -87.00)
8:144696810	rs201368998 COSM1162330	I>V	B:150	(43.03, 0.96, -87.68)
8:144696807		D>N	B:151	(46.56, 4.98, -87.77)
8:144696804		V>L	B:152	(48.02, 3.05, -84.04)
8:144696622		A>T	B:156	(53.37, -0.41, -85.98)
8:144696613		Q>E	B:159	(57.44, 2.58, -87.58)
8:144696604		G>S	B:162	(57.31, -2.35, -93.66)
8:144696591		T>I	B:166	(46.80, 2.05, -95.40)
8:144696589	rs375507364 COSM3897461	A>T	B:167	(43.77, 3.95, -94.58)
8:144696576		T>I	B:171	(32.39, 10.89, -95.56)
8:144696573	rs201464118	N>S	B:172	(28.56, 10.54, -94.24)
8:144696571	rs150364101	V>I	B:173	(28.37, 6.47, -97.10)
8:144696565	rs539092181	G>R	B:175	(23.22, 3.57, -101.16)
8:144696556	rs140641547	D>N	B:178	(22.37, 1.03, -96.73)
8:144696550		F>V	B:180	(17.74, 1.57, -96.00)
8:144696541	rs145040472	E>K	B:183	(16.15, 2.17, -84.24)
8:144696517		L>V	B:191	(15.38, 10.47, -94.33)
8:144696507		K>R	B:194	(11.58, 8.43, -92.12)
8:144696502		H>Y	B:196	(8.42, 3.95, -98.58)
8:144696490		S>G	B:200	(2.03, 4.47, -96.98)
8:144696392		G>V	B:202	(-0.04, 9.41, -94.50)
8:144696389	rs141236351	S>L	B:203	(2.32, 10.52, -92.71)
8:144696383		L>R	B:205	(9.05, 13.66, -92.98)
8:144696380	rs139620518	T>M	B:206	(9.68, 13.18, -88.62)
8:144696373	rs368480990	W>C	B:208	(14.97, 11.42, -86.06)
8:144696369		T>A	B:210	(17.60, 21.04, -85.90)
8:144696365		G>E	B:211	(18.86, 20.48, -89.60)
8:144696363	rs201183774	N>D	B:212	(20.82, 23.16, -88.43)
8:144696359	rs142621980	P>L	B:213	(23.31, 19.59, -88.61)
8:144696356	rs147382289	R>L	B:214	(26.60, 21.83, -92.68)
8:144696357	rs569059926 COSM3897458	R>W	B:214	(26.60, 21.83, -92.68)
8:144696353		R>K	B:215	(26.88, 16.01, -91.51)
8:144696338		S>L	B:220	(28.69, 3.90, -102.84)
8:144695963		V>I	B:230	(43.84, 3.45, -102.73)
8:144695956		R>Q	B:232	(44.46, -0.80, -108.62)
8:144695957	rs376988546	R>W	B:232	(44.46, -0.80, -108.62)
8:144695950		Y>F	B:234	(47.72, 6.03, -100.89)
8:144695947		N>S	B:235	(52.18, 3.49, -102.08)
8:144695768		E>K	B:246	(34.21, 21.81, -98.38)
8:144695764	rs372009690	E>A	B:247	(32.88, 23.07, -101.64)
8:144695735		E>K	B:257	(15.25, 19.74, -99.13)
8:144695732		A>T	B:258	(16.77, 15.53, -101.81)
8:144695722		E>G	B:261	(12.40, 15.32, -104.49)
8:144695452		K>R	B:275	(15.88, 14.34, -81.31)
8:144695453		K>E	B:275	(15.88, 14.34, -81.31)
8:144695449		S>L	B:276	(20.34, 14.33, -81.07)
8:144695450		S>P	B:276	(20.34, 14.33, -81.07)
8:144695444		G>R	B:278	(25.27, 15.75, -82.46)
8:144695440		Q>R	B:279	(29.76, 16.05, -84.38)
8:144695436		F>L	B:280	(26.63, 21.69, -86.22)
8:144695431		K>T	B:282	(31.98, 15.84, -89.44)
8:144695428		T>I	B:283	(34.37, 20.03, -92.40)
8:144695425		A>V	B:284	(36.64, 17.49, -94.67)
8:144695402		Y>H	B:292	(47.71, 11.37, -105.06)
8:144695393		D>N	B:295	(41.11, 14.10, -113.14)
8:144695388		F>L	B:296	(36.93, 11.38, -109.40)
8:144695386		R>Q	B:297	(34.87, 11.87, -112.53)
8:144695387	rs574552976	R>W	B:297	(34.87, 11.87, -112.53)
8:144695377	COSM1700749	P>L	B:300	(25.64, 14.48, -109.10)
8:144695117		A>V	B:310	(15.02, 3.78, -106.90)
8:144695112	rs373134296	F>L	B:312	(14.25, 1.53, -100.41)
8:144695109		T>A	B:313	(11.26, 1.75, -104.43)
8:144695097		E>Q	B:317	(10.41, -7.27, -100.47)
8:144695088	rs199878471	R>G	B:320	(20.50, -3.76, -94.67)