3I4R.B | NUP133

General Structure Information

PDB ID	3i4r
HGNC Gene Label(s)	NUP133
Structure Name	nup107(aa658-925)/nup133(aa517-1156) complex, h.sapiens
Resolution	3.53Å
Reference	AUTH J.R.WHITTLE,T.U.SCHWARTZTITL ARCHITECTURAL NUCLEOPORINS NUP157/170 AND NUP133TITL 2 ARE STRUCTURALLY RELATED AND DESCEND FROM A SECONDTITL 3 ANCESTRAL ELEMENT.REF J.BIOL.CHEM. V. 284 28442 2009REFN ISSN 0021-9258PMID 19674973DOI 10.1074/JBC.M109.023580

Variant Set Distributions

ExAC Variants

Number Of Residues	528
Number Of SNVs	122
Number Of Permutations	79482
Optimal Distance Threshold	15.0
K Statistic	0.073
p-value	0.884

COSMIC

Number Of Residues	528
Number Of SNVs	4
Number Of Permutations	1231
Optimal Distance Threshold	5.0
K Statistic	0.167
p-value	0.701

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	122
Number Of COSMIC SNVs	3
Optimal Distance Threshold	5.0
K Statistic	0.329
p-value	0.754

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:229619828		L>P	B:522	(4.29, 74.78, 51.56)
1:229613496		G>D	B:535	(17.44, 83.91, 42.42)
1:229613497		G>S	B:535	(17.44, 83.91, 42.42)
1:229613494		H>Y	B:536	(19.26, 80.87, 43.67)
1:229613491		A>S	B:537	(21.46, 81.09, 46.37)
1:229613482	rs568176929	V>L	B:540	(19.77, 76.50, 47.53)
1:229613476		D>N	B:542	(16.16, 76.10, 51.51)
1:229613464	rs376085912	S>A	B:546	(15.47, 70.54, 53.11)
1:229613457		H>P	B:548	(18.84, 68.13, 56.80)
1:229613458		H>Y	B:548	(18.84, 68.13, 56.80)
1:229613433	rs143135859	E>V	B:556	(5.54, 59.20, 53.54)
1:229613399	rs142046957	D>E	B:567	(-0.16, 72.16, 46.41)
1:229613401	COSM679174	D>H	B:567	(-0.16, 72.16, 46.41)
1:229613395		M>L	B:569	(0.51, 72.99, 41.08)
1:229613383		P>S	B:573	(-3.76, 76.55, 38.36)
1:229611448	rs530241836	I>M	B:596	(-7.65, 88.90, 30.20)
1:229611425		K>R	B:604	(-0.08, 80.04, 33.81)
1:229611399	rs150406381	D>N	B:613	(12.48, 74.45, 36.27)
1:229606550		V>A	B:618	(16.55, 72.45, 43.34)
1:229606536	rs376867486	R>C	B:623	(8.22, 62.33, 45.04)
1:229606529		G>D	B:625	(1.27, 60.39, 44.99)
1:229606470		E>K	B:645	(-0.39, 70.56, 32.02)
1:229606463		L>Q	B:647	(-5.43, 70.80, 31.76)
1:229606455	COSM4029323	A>T	B:650	(-7.43, 72.50, 27.79)
1:229606449		V>I	B:652	(-6.48, 77.21, 26.14)
1:229606430	COSM3369598	S>Y	B:658	(-15.50, 81.65, 22.34)
1:229606427		R>L	B:659	(-19.30, 80.50, 21.65)
1:229606428	rs201748818	R>W	B:659	(-19.30, 80.50, 21.65)
1:229606403		A>V	B:667	(-23.19, 77.95, 32.80)
1:229606404	rs569731659	A>T	B:667	(-23.19, 77.95, 32.80)
1:229606401		I>V	B:668	(-24.77, 74.73, 33.21)
1:229606395		I>L	B:670	(-21.21, 75.84, 37.10)
1:229606373	rs143513043	Y>C	B:677	(-20.87, 85.43, 42.21)
1:229606374	rs574823773	Y>H	B:677	(-20.87, 85.43, 42.21)
1:229606366		I>M	B:679	(-20.28, 90.59, 41.33)
1:229602497	rs201432962	Q>E	B:695	(-16.41, 68.61, 34.36)
1:229602487	rs374413292	T>I	B:698	(-19.63, 65.77, 31.34)
1:229602488	rs148856535	T>A	B:698	(-19.63, 65.77, 31.34)
1:229602457	rs558744112	E>G	B:708	(-31.06, 66.71, 21.27)
1:229602421		E>G	B:720	(-29.21, 72.62, 12.56)
1:229602417		W>C	B:721	(-29.36, 69.91, 15.12)
1:229602400		N>S	B:727	(-19.46, 71.49, 17.21)
1:229601261	COSM1158700	M>I	B:735	(-9.01, 68.97, 23.58)
1:229601256	rs202163820	Q>R	B:737	(-5.27, 67.09, 20.55)
1:229601250		A>V	B:739	(-3.13, 66.50, 25.46)
1:229601248		S>R	B:740	(-1.52, 64.73, 22.64)
1:229601239	rs556067201	R>C	B:743	(2.96, 64.47, 25.70)
1:229600595	COSM210261	T>M	B:776	(-16.07, 60.00, 33.39)
1:229600596		T>A	B:776	(-16.07, 60.00, 33.39)
1:229600583		R>H	B:780	(-18.27, 60.83, 27.72)
1:229600584		R>C	B:780	(-18.27, 60.83, 27.72)
1:229600577		H>R	B:782	(-18.94, 56.11, 24.89)
1:229600569		V>F	B:785	(-20.16, 57.24, 19.92)
1:229600562	rs200267062	K>R	B:787	(-24.55, 59.84, 19.33)
1:229600541	rs377066365	D>G	B:794	(-29.76, 60.98, 9.60)
1:229600533		L>F	B:797	(-23.03, 62.17, 3.25)
1:229600529	COSM1501222	R>Q	B:798	(-20.36, 64.41, 4.03)
1:229600521	rs139160684	V>M	B:801	(-17.80, 61.45, 7.47)
1:229600517		T>N	B:802	(-16.76, 64.20, 9.57)
1:229600515	rs373640878	E>K	B:803	(-18.32, 62.50, 12.41)
1:229600510		Q>H	B:804	(-16.38, 59.55, 11.41)
1:229600496	rs528368389	I>S	B:809	(-10.01, 60.80, 16.45)
1:229600488		F>V	B:812	(-7.41, 56.92, 18.94)
1:229600466		Q>R	B:819	(-1.64, 51.27, 25.95)
1:229600443		S>G	B:827	(4.53, 41.81, 36.60)
1:229600436	rs142147117	R>Q	B:829	(-0.36, 41.70, 39.75)
1:229600437		R>W	B:829	(-0.36, 41.70, 39.75)
1:229600421		N>S	B:834	(-5.31, 40.22, 32.31)
1:229600412		M>T	B:837	(-7.04, 43.32, 28.57)
1:229600406		Y>C	B:839	(-11.52, 45.48, 28.81)
1:229600386		L>F	B:846	(-17.18, 47.89, 20.38)
1:229600380		S>T	B:848	(-15.28, 47.24, 15.57)
1:229600377		P>S	B:849	(-18.75, 46.89, 15.23)
1:229600371		L>F	B:851	(-17.03, 50.27, 12.14)
1:229599414	rs35944758	G>D	B:854	(-18.80, 51.88, 8.22)
1:229599415		G>S	B:854	(-18.80, 51.88, 8.22)
1:229599408		Y>C	B:856	(-13.12, 50.58, 5.87)
1:229599394		S>A	B:861	(-6.63, 53.67, 10.98)
1:229599385	COSM136222	E>K	B:864	(-2.96, 50.89, 13.45)
1:229599382	rs534810481	K>E	B:865	(-3.95, 52.52, 16.42)
1:229599372		D>V	B:868	(-3.72, 44.76, 16.29)
1:229599362	rs138312761	I>M	B:871	(-10.38, 40.60, 14.30)
1:229599348		C>Y	B:876	(-12.90, 43.48, 6.44)
1:229599340	rs140525991	T>A	B:879	(-16.35, 41.06, 3.29)
1:229599315	rs375446105 COSM4029321	R>H	B:887	(-1.66, 40.03, 1.85)
1:229599312	rs372148079	Y>C	B:888	(-0.99, 43.35, 3.17)
1:229599292	COSM240945	Q>K	B:895	(2.28, 36.24, 13.68)
1:229596515		N>T	B:896	(-0.61, 36.77, 11.31)
1:229596496	rs375137512	F>L	B:902	(-6.91, 30.34, 13.63)
1:229596494		R>H	B:903	(-9.22, 32.95, 12.22)
1:229596495		R>C	B:903	(-9.22, 32.95, 12.22)
1:229596491	rs145861862	W>L	B:904	(-10.51, 30.63, 9.72)
1:229596435	rs149720511	G>R	B:923	(-11.57, 30.44, 0.38)
1:229596430		Q>H	B:924	(-10.42, 27.68, -1.23)
1:229596427		L>F	B:925	(-7.17, 29.40, -1.29)
1:229596429		L>V	B:925	(-7.17, 29.40, -1.29)
1:229594040	rs146066633	H>Y	B:950	(-0.20, 6.50, 2.95)
1:229594036		A>V	B:951	(1.14, 9.26, 5.70)
1:229594012		M>T	B:959	(-4.25, 9.72, 16.45)
1:229594004	rs564675579	R>C	B:962	(-14.51, 10.51, 19.63)
1:229593942		D>E	B:982	(3.50, 6.62, -8.08)
1:229593938		S>A	B:984	(7.95, 0.75, -5.71)
1:229593933	rs576319343	E>D	B:985	(5.79, -3.41, -7.51)
1:229593929		M>V	B:987	(7.68, 0.89, -0.73)
1:229588386		M>I	B:995	(-2.00, -1.43, 6.01)
1:229588372	COSM679179	R>H	B:1000	(-4.25, -9.03, 9.80)
1:229588373		R>C	B:1000	(-4.25, -9.03, 9.80)
1:229588346		P>T	B:1009	(-20.97, -10.75, 18.21)
1:229588330		A>V	B:1014	(-27.87, -5.60, 22.17)
1:229588326	rs374502193	E>D	B:1015	(-27.40, -8.23, 25.65)
1:229588310		S>G	B:1021	(-20.86, 3.07, 14.70)
1:229588306	COSM533314	A>V	B:1022	(-20.94, 5.13, 17.81)
1:229588303		M>T	B:1023	(-18.28, 1.92, 19.14)
1:229588292		T>A	B:1027	(-8.30, -2.33, 23.64)
1:229588285		P>Q	B:1029	(-8.05, -5.86, 26.55)
1:229588273	rs35550140	G>D	B:1033	(-13.63, -9.76, 27.57)
1:229586348		Y>C	B:1035	(-14.90, -11.67, 21.35)
1:229586336	rs370920263	E>A	B:1039	(-23.20, -10.88, 28.44)
1:229586319		E>Q	B:1045	(-15.30, -22.90, 18.24)
1:229586288	rs376476266	L>S	B:1055	(-3.12, -11.98, 23.75)
1:229586282		Y>C	B:1057	(-2.94, -7.49, 18.89)
1:229586280	rs200086993	I>V	B:1058	(-1.33, -6.20, 25.17)
1:229586276	rs140045966	D>G	B:1059	(1.95, -3.09, 25.13)
1:229584921	rs371972960 COSM1715949	I>T	B:1066	(-0.06, -12.49, 29.57)
1:229584875		D>E	B:1081	(-18.17, -27.21, 27.67)
1:229580712		V>I	B:1095	(-17.09, -29.88, 22.56)
1:229580700		S>G	B:1099	(-11.97, -27.33, 19.25)
1:229580696	rs146480140	I>T	B:1100	(-9.75, -24.63, 21.36)
1:229580687		K>M	B:1103	(-7.10, -24.74, 16.22)
1:229580683	rs201548931	I>M	B:1104	(-3.87, -24.59, 18.49)
1:229577763		P>L	B:1120	(3.62, -25.34, 26.78)
1:229577764	rs549704504	P>S	B:1120	(3.62, -25.34, 26.78)
1:229577737		D>Y	B:1129	(-6.17, -23.32, 41.39)
1:229577685		A>V	B:1146	(-8.54, -36.97, 29.87)
1:229577676		E>A	B:1149	(-3.49, -37.13, 27.51)
1:229577667		V>A	B:1152	(0.58, -35.29, 25.17)
1:229577655		I>T	B:1156	(3.78, -35.31, 20.18)

3I4R.B | NUP133.

3I4R.B | NUP133

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:229602386	COSM216254	L>F	B:732	(-13.63, 67.43, 22.57)
1:229601261	COSM1158700	M>I	B:735	(-9.01, 68.97, 23.58)
1:229588306	COSM533314	A>V	B:1022	(-20.94, 5.13, 17.81)
1:229584922	COSM1601865	I>V	B:1066	(-0.06, -12.49, 29.57)