2Y73.B | AOC3 – ASTRID

2Y73.B | AOC3

General Structure Information

PDB ID	2y73
HGNC Gene Label(s)	AOC3
Structure Name	the native structures of soluble human primary amine oxidase aoc3
Resolution	2.6Å
Reference	AUTH H.ELOVAARA,H.KIDRON,V.PARKASH,Y.NYMALM,E.BLIGT,P.OLLIKKA,AUTH 2 D.J.SMITH,M.PIHLAVISTO,M.SALMI,S.JALKANEN,T.A.SALMINENTITL IDENTIFICATION OF TWO IMIDAZOLE BINDING SITES AND KEYTITL 2 RESIDUES FOR SUBSTRATE SPECIFICITY IN HUMAN PRIMARY AMINETITL 3 OXIDASE AOC3.REF BIOCHEMISTRY V. 50 5507 2011REFN ISSN 0006-2960PMID 21585208DOI 10.1021/BI200117Z

Variant Set Distributions

ExAC Variants

Number Of Residues	700
Number Of SNVs	157
Number Of Permutations	50126
Optimal Distance Threshold	11.0
K Statistic	0.041
p-value	0.006

COSMIC

Number Of Residues	700
Number Of SNVs	11
Number Of Permutations	4246
Optimal Distance Threshold	6.0
K Statistic	0.036
p-value	0.81

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	157
Number Of COSMIC SNVs	10
Optimal Distance Threshold	6.0
K Statistic	0.037
p-value	0.475

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:41003565	rs201046118	T>A	B:69	(-44.72, -42.23, -19.82)
17:41003575	rs574110621	M>K	B:72	(-39.21, -41.47, -17.66)
17:41003577		R>C	B:73	(-40.10, -38.13, -23.39)
17:41003592	rs541400140	R>W	B:78	(-33.92, -31.68, -18.10)
17:41003655		V>M	B:99	(-42.17, -41.88, -10.63)
17:41003667		L>V	B:103	(-49.53, -34.94, -2.64)
17:41003806	rs528402843	P>L	B:149	(-43.74, -32.23, -18.70)
17:41003815		M>T	B:152	(-36.41, -30.95, -13.13)
17:41003823	rs546899035	V>M	B:155	(-36.64, -30.75, -3.40)
17:41003835		R>C	B:159	(-38.06, -32.16, 0.81)
17:41003847		P>S	B:163	(-27.01, -34.44, 0.79)
17:41003853		P>S	B:165	(-26.92, -40.23, 2.28)
17:41003859	rs2228470	H>Y	B:167	(-26.10, -45.06, 3.29)
17:41003865		R>C	B:169	(-28.94, -47.13, -2.11)
17:41003866		R>H	B:169	(-28.94, -47.13, -2.11)
17:41003868		P>S	B:170	(-33.43, -48.41, -1.31)
17:41003875		L>P	B:172	(-31.98, -52.01, -6.36)
17:41003880		Q>E	B:174	(-29.69, -56.21, -10.23)
17:41003895	rs201082751	I>V	B:179	(-26.31, -60.27, -2.93)
17:41003913	rs370465	N>D	B:185	(-21.97, -68.67, -7.79)
17:41003916		R>G	B:186	(-18.76, -65.24, -5.58)
17:41003947		H>R	B:196	(-24.61, -83.59, 0.89)
17:41003950		H>R	B:197	(-24.10, -84.47, 4.70)
17:41003953		C>S	B:198	(-27.91, -80.22, 5.88)
17:41003956		C>Y	B:199	(-29.32, -78.98, 2.97)
17:41003964		K>Q	B:202	(-26.43, -78.87, -5.57)
17:41003965		K>R	B:202	(-26.43, -78.87, -5.57)
17:41003966	COSM561102	K>N	B:202	(-26.43, -78.87, -5.57)
17:41003970		R>W	B:204	(-26.27, -74.83, -8.77)
17:41003971		R>Q	B:204	(-26.27, -74.83, -8.77)
17:41003976	COSM3189692	R>W	B:206	(-30.36, -71.99, -6.31)
17:41003977	rs373846010	R>Q	B:206	(-30.36, -71.99, -6.31)
17:41003998	rs139051163	T>M	B:213	(-32.91, -58.80, 7.16)
17:41004006	rs376328885	R>C	B:216	(-29.65, -53.58, 5.15)
17:41004007		R>H	B:216	(-29.65, -53.58, 5.15)
17:41004027	COSM4066703	R>W	B:223	(-25.96, -51.27, 1.95)
17:41004043		G>D	B:228	(-31.22, -66.56, 4.99)
17:41004165	COSM272340	R>C	B:269	(-21.04, -73.18, 16.76)
17:41004174	rs145964446	D>N	B:272	(-15.00, -64.98, 10.23)
17:41004178		S>I	B:273	(-15.75, -67.89, 6.74)
17:41004249	rs557698895	G>S	B:297	(-49.15, -80.06, 5.10)
17:41004276		V>L	B:306	(-60.90, -81.15, 1.81)
17:41004283	rs145567714	P>L	B:308	(-64.94, -78.81, -2.53)
17:41004286		G>D	B:309	(-68.46, -77.60, -0.82)
17:41004291		A>P	B:311	(-71.10, -72.47, -0.80)
17:41004310		Y>C	B:317	(-75.07, -55.15, -4.41)
17:41004312		P>S	B:318	(-80.94, -56.40, -4.83)
17:41004324	rs142692588	R>C	B:322	(-76.75, -48.74, -2.05)
17:41004325		R>H	B:322	(-76.75, -48.74, -2.05)
17:41004330		S>G	B:324	(-69.82, -44.78, -7.60)
17:41004346	rs2229595	R>Q	B:329	(-63.73, -38.86, -5.86)
17:41004352		A>V	B:331	(-69.91, -42.14, -4.44)
17:41004355	rs140439621	S>F	B:332	(-72.47, -42.67, -1.62)
17:41004384		G>R	B:342	(-48.26, -45.04, -2.03)
17:41004418	rs142478617	R>P	B:353	(-66.68, -33.94, 0.64)
17:41004429		E>K	B:357	(-69.75, -31.44, 6.29)
17:41004446		E>D	B:362	(-54.55, -36.92, 4.76)
17:41004449	rs368542870	I>M	B:363	(-56.94, -40.88, 6.29)
17:41004451		S>N	B:364	(-52.48, -41.87, 5.73)
17:41004453		L>V	B:365	(-50.17, -45.93, 5.99)
17:41004454		L>R	B:365	(-50.17, -45.93, 5.99)
17:41004460		E>G	B:367	(-44.35, -47.04, 8.25)
17:41004466		L>W	B:369	(-42.55, -51.63, 12.67)
17:41004471		I>V	B:371	(-39.45, -55.23, 16.42)
17:41004472	rs35097308	I>T	B:371	(-39.45, -55.23, 16.42)
17:41004486		S>A	B:376	(-30.75, -65.90, 15.27)
17:41004495		A>P	B:379	(-33.87, -62.42, 13.91)
17:41004498		M>V	B:380	(-31.11, -61.20, 17.23)
17:41004502	COSM979683	T>M	B:381	(-30.90, -57.88, 14.25)
17:41004507	rs149423459	R>G	B:383	(-35.20, -54.52, 14.47)
17:41004508		R>H	B:383	(-35.20, -54.52, 14.47)
17:41004528		G>S	B:390	(-43.57, -50.66, -0.04)
17:41004532		M>T	B:391	(-46.77, -50.38, 1.93)
17:41004547	rs528666904	T>M	B:396	(-51.06, -57.68, -4.14)
17:41004549		P>S	B:397	(-53.41, -58.95, -6.71)
17:41004553		L>R	B:398	(-57.51, -58.14, -4.54)
17:41004559	rs143826965	R>H	B:400	(-63.68, -61.45, -8.15)
17:41004564		V>M	B:402	(-60.97, -64.58, -1.20)
17:41004571	rs201043084	C>Y	B:404	(-62.95, -59.18, -1.62)
17:41004576	rs36036014	Y>N	B:406	(-67.44, -62.85, -7.28)
17:41004582	rs35643019	A>S	B:408	(-66.76, -56.07, -5.72)
17:41004589		Y>C	B:410	(-62.51, -56.08, -7.44)
17:41004591	rs201747345	V>M	B:411	(-59.57, -50.75, -9.01)
17:41004592		V>G	B:411	(-59.57, -50.75, -9.01)
17:41004600		H>Y	B:414	(-51.58, -47.69, -12.87)
17:41004611	rs199958009	L>F	B:417	(-41.51, -48.51, -9.15)
17:41004616		S>Y	B:419	(-38.83, -49.34, -14.30)
17:41004636	rs368455364	R>C	B:426	(-54.52, -55.60, -13.86)
17:41004637	rs33986943	R>H	B:426	(-54.52, -55.60, -13.86)
17:41004639		D>H	B:427	(-57.64, -56.42, -9.46)
17:41004643	rs141645485	A>G	B:428	(-55.58, -53.33, -6.11)
17:41004651	rs113316620	V>M	B:431	(-65.07, -50.72, -3.55)
17:41004661	rs200247368 COSM73686 COSM1383476	Q>R	B:434	(-70.66, -55.90, 3.87)
17:41004676		P>L	B:439	(-77.91, -53.91, 14.31)
17:41004678		L>V	B:440	(-76.64, -48.87, 13.28)
17:41004681	rs2229596	R>W	B:441	(-81.04, -47.42, 14.36)
17:41004682	rs369071538 COSM215689	R>Q	B:441	(-81.04, -47.42, 14.36)
17:41004685		R>Q	B:442	(-83.28, -52.92, 18.45)
17:41004690		H>Y	B:444	(-89.29, -54.18, 20.89)
17:41004727	rs367848102	A>V	B:456	(-79.32, -52.45, 9.13)
17:41004733	rs530957915 COSM1521491	T>M	B:458	(-74.76, -51.24, 5.22)
17:41004742		V>G	B:461	(-65.24, -51.12, 2.16)
17:41004751	COSM3517826	S>Y	B:464	(-55.51, -52.82, -0.04)
17:41004755		M>I	B:465	(-54.10, -56.76, 0.29)
17:41004756		S>P	B:466	(-49.46, -55.20, 1.22)
17:41004760		T>N	B:467	(-47.30, -58.94, 0.01)
17:41004777	rs145072530	Y>N	B:473	(-49.07, -56.00, 6.20)
17:41004780		V>L	B:474	(-55.30, -56.20, 5.18)
17:41004787	rs370377572	D>A	B:476	(-59.84, -52.07, 5.76)
17:41004790	rs148703677	T>M	B:477	(-61.23, -47.75, 4.58)
17:41004805		S>N	B:482	(-72.87, -42.91, 11.74)
17:41004823	rs146487990	R>Q	B:488	(-59.73, -52.37, 11.52)
17:41004829	rs200003631	Y>C	B:490	(-57.19, -56.96, 9.48)
17:41004835	rs578013869	T>M	B:492	(-52.10, -62.56, 6.86)
17:41004840		Y>H	B:494	(-46.55, -67.95, 4.95)
17:41004849		S>P	B:497	(-38.84, -68.91, 10.34)
17:41004850	rs368031385	S>L	B:497	(-38.84, -68.91, 10.34)
17:41004857		F>L	B:499	(-32.98, -74.44, 12.34)
17:41004868	rs200610992	A>V	B:503	(-32.50, -72.44, 23.53)
17:41004882	COSM1183088	G>R	B:508	(-40.47, -68.89, 20.94)
17:41004883	rs370277303	G>E	B:508	(-40.47, -68.89, 20.94)
17:41004913	rs201143286	T>M	B:518	(-39.74, -65.66, 15.76)
17:41004915		V>I	B:519	(-40.86, -62.96, 19.17)
17:41004916		V>A	B:519	(-40.86, -62.96, 19.17)
17:41004936	rs375193959	F>L	B:526	(-52.44, -45.05, 10.69)
17:41006467		L>V	B:535	(-58.81, -25.77, 9.10)
17:41006485		A>T	B:541	(-59.93, -34.42, 27.33)
17:41006488		E>K	B:542	(-64.15, -35.36, 27.69)
17:41006509		M>V	B:549	(-70.92, -35.90, 47.39)
17:41006519		P>L	B:552	(-78.90, -34.41, 49.04)
17:41006525		S>N	B:554	(-79.92, -38.32, 53.45)
17:41006545		R>G	B:561	(-72.24, -37.03, 42.36)
17:41006561	rs75260501	R>Q	B:566	(-65.59, -31.68, 29.99)
17:41006569		L>V	B:569	(-55.19, -30.58, 25.40)
17:41006574		E>D	B:570	(-53.61, -25.45, 25.32)
17:41006581	rs376688071 COSM3889720	E>K	B:573	(-45.77, -31.59, 24.23)
17:41006590	rs201738850 COSM979686	A>T	B:576	(-48.64, -36.73, 23.53)
17:41006599	rs151291423	V>M	B:579	(-47.07, -46.73, 24.65)
17:41006602		G>R	B:580	(-48.49, -47.17, 28.60)
17:41006603		G>E	B:580	(-48.49, -47.17, 28.60)
17:41006608	rs34987927	A>T	B:582	(-53.07, -43.48, 30.10)
17:41006609		A>V	B:582	(-53.07, -43.48, 30.10)
17:41006617	rs199913475	R>C	B:585	(-61.79, -43.32, 29.75)
17:41006618		R>H	B:585	(-61.79, -43.32, 29.75)
17:41006636		S>N	B:591	(-64.73, -26.46, 16.49)
17:41006639		N>S	B:592	(-65.01, -22.61, 17.56)
17:41006665	rs373245198	R>W	B:601	(-69.37, -29.28, 14.76)
17:41006666	rs138325720	R>Q	B:601	(-69.37, -29.28, 14.76)
17:41006674	rs149650753	R>C	B:604	(-64.37, -40.49, 20.33)
17:41006675	rs555331668 COSM3421587	R>H	B:604	(-64.37, -40.49, 20.33)
17:41006684		M>K	B:607	(-57.24, -45.96, 20.00)
17:41006705	rs144569700	P>L	B:614	(-41.92, -49.89, 22.75)
17:41006711		P>L	B:616	(-36.01, -49.69, 23.74)
17:41006723		S>C	B:620	(-29.07, -46.63, 18.06)
17:41006729	rs202218962	A>V	B:622	(-35.16, -45.66, 17.70)
17:41006732		R>K	B:623	(-34.90, -40.36, 17.46)
17:41006741		S>T	B:626	(-40.27, -42.20, 16.98)
17:41007471		A>S	B:633	(-50.39, -37.55, 18.36)
17:41007481	rs377671071	Q>R	B:636	(-49.09, -27.16, 14.26)
17:41007482		Q>H	B:636	(-49.09, -27.16, 14.26)
17:41007484	COSM1383480	R>Q	B:637	(-50.86, -29.91, 7.73)
17:41007505		S>N	B:644	(-43.89, -40.26, 10.03)
17:41007513	rs373750020	V>I	B:647	(-37.97, -44.66, 1.70)
17:41007520		N>S	B:649	(-35.74, -44.11, 7.86)
17:41007541	rs370507158	P>H	B:656	(-32.96, -40.35, 11.00)
17:41007544		T>S	B:657	(-34.56, -39.03, 6.67)
17:41007549		D>N	B:659	(-37.57, -37.98, 14.00)
17:41007556		S>N	B:661	(-39.97, -36.61, 17.71)
17:41007559		D>G	B:662	(-38.66, -33.65, 15.28)
17:41007574		E>G	B:667	(-45.81, -25.85, 18.13)
17:41007582		A>T	B:670	(-55.13, -23.76, 19.93)
17:41008349	rs141603690	P>A	B:692	(-50.26, -72.24, 7.01)
17:41008371		N>S	B:699	(-54.95, -60.00, 14.77)
17:41008376		V>M	B:701	(-55.40, -53.00, 14.64)
17:41008392	rs188308793	R>Q	B:706	(-67.37, -42.70, 17.43)
17:41008412		E>K	B:713	(-79.81, -35.35, 14.65)
17:41008426		F>L	B:717	(-84.16, -39.88, 11.99)
17:41008436	rs139601722	D>N	B:721	(-82.38, -48.19, 4.22)
17:41008452	rs144521317	R>Q	B:726	(-97.49, -47.87, 14.75)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:41003601	COSM4590771	P>A	B:81	(-27.65, -39.62, -21.71)
17:41003611	COSM4596334	V>G	B:84	(-29.44, -47.15, -16.21)
17:41003614	COSM4590230	D>G	B:85	(-33.36, -49.81, -16.37)
17:41003913	COSM215688	N>D	B:185	(-21.97, -68.67, -7.79)
17:41004133	COSM979681	R>H	B:258	(-13.92, -54.28, -3.50)
17:41004204	COSM1750060	E>Q	B:282	(-13.97, -81.18, 6.47)
17:41004333	COSM1283436	V>F	B:325	(-66.03, -46.04, -8.74)
17:41004340	COSM3712505	G>E	B:327	(-61.64, -43.46, -10.86)
17:41004682	COSM215689	R>Q	B:441	(-81.04, -47.42, 14.36)
17:41004729	COSM231765	E>K	B:457	(-74.22, -51.53, 9.78)
17:41004823	COSM109144	R>Q	B:488	(-59.73, -52.37, 11.52)

2Y73.B | AOC3.

2Y73.B | AOC3

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