1W7N.A | CCBL1

General Structure Information

PDB ID	1w7n
HGNC Gene Label(s)	CCBL1
Structure Name	crystal structure of human kynurenine aminotransferase i in pmp form
Resolution	2.9Å
Reference	AUTH F.ROSSI,Q.HAN,J.LI,J.LI,M.RIZZITITL CRYSTAL STRUCTURE OF HUMAN KYNURENINETITL 2 AMINOTRANSFERASE IREF J.BIOL.CHEM. V. 279 50214 2004REFN ISSN 0021-9258PMID 15364907DOI 10.1074/JBC.M409291200

Variant Set Distributions

ExAC Variants

Number Of Residues	415
Number Of SNVs	130
Number Of Permutations	56108
Optimal Distance Threshold	16.0
K Statistic	0.15
p-value	0.705

COSMIC

Number Of Residues	415
Number Of SNVs	5
Number Of Permutations	645
Optimal Distance Threshold	21.0
K Statistic	0.1
p-value	0.345

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	130
Number Of COSMIC SNVs	4
Optimal Distance Threshold	21.0
K Statistic	-0.285
p-value	0.284

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:131607673		Q>H	A:4	(-19.63, 115.50, -0.62)
9:131607674		Q>R	A:4	(-19.63, 115.50, -0.62)
9:131607666		A>T	A:7	(-14.95, 121.01, 3.96)
9:131607662	rs560525574	R>Q	A:8	(-19.48, 123.15, 4.66)
9:131607641	rs375695683	Y>C	A:15	(-7.37, 130.55, -8.30)
9:131605055		E>K	A:27	(7.52, 129.75, -19.35)
9:131605052		H>Y	A:28	(9.36, 133.88, -20.38)
9:131605048		D>G	A:29	(14.66, 136.28, -19.42)
9:131605046	rs368132598	V>I	A:30	(12.67, 137.38, -15.99)
9:131605043	rs551408131 COSM607754 COSM1650859	V>M	A:31	(13.77, 140.98, -13.86)
9:131605024		F>S	A:37	(11.76, 137.16, -1.82)
9:131605025		F>L	A:37	(11.76, 137.16, -1.82)
9:131605021	rs370439886	P>L	A:38	(15.12, 139.31, -0.17)
9:131605003		D>V	A:44	(26.56, 138.48, 8.74)
9:131604995		V>M	A:47	(23.17, 133.94, 9.23)
9:131604965	rs145639940	D>N	A:57	(22.45, 122.86, 23.28)
9:131604959		M>V	A:59	(18.40, 119.32, 23.78)
9:131604943		T>I	A:64	(10.50, 124.43, 22.74)
9:131600640		P>T	A:70	(11.74, 131.09, 26.25)
9:131600637		P>S	A:71	(14.75, 132.94, 24.94)
9:131600630		T>M	A:73	(9.19, 135.08, 24.66)
9:131600624		I>T	A:75	(13.77, 139.74, 23.53)
9:131600609		F>S	A:80	(8.36, 144.52, 20.32)
9:131600604		E>Q	A:82	(10.45, 150.15, 25.44)
9:131600585	rs201539765	I>T	A:88	(4.76, 142.46, 27.36)
9:131600577		L>F	A:91	(3.68, 132.88, 29.47)
9:131600541		A>S	A:103	(-0.68, 134.71, 13.15)
9:131600538		L>V	A:104	(-2.98, 136.39, 10.43)
9:131600516	rs376643468	L>P	A:111	(-11.46, 135.92, 17.21)
9:131600514		V>M	A:112	(-13.78, 134.70, 13.10)
9:131600511		D>Y	A:113	(-17.89, 132.43, 14.23)
9:131600508	rs190744632	E>K	A:114	(-21.07, 131.72, 10.68)
9:131600502	rs539317116	D>Y	A:116	(-18.45, 137.24, 12.83)
9:131600416		V>F	A:118	(-13.83, 141.19, 8.98)
9:131600411	rs567795695	I>M	A:119	(-13.42, 145.75, 8.63)
9:131600410	rs201161036	I>V	A:120	(-10.88, 143.87, 4.84)
9:131600400		P>R	A:123	(-5.08, 147.78, -0.76)
9:131600394	rs371451324	F>S	A:125	(-1.62, 140.01, 2.51)
9:131600383		E>K	A:129	(-11.04, 137.45, 1.25)
9:131600379		P>R	A:130	(-9.31, 133.88, 2.46)
9:131600370	rs200644048 COSM3727975 COSM3727976	M>T	A:133	(-14.17, 133.06, 3.52)
9:131600371		M>V	A:133	(-14.17, 133.06, 3.52)
9:131600361	COSM1554322	G>E	A:136	(-17.35, 132.37, 8.67)
9:131600358		G>A	A:137	(-16.99, 135.14, 7.83)
9:131600355	COSM1105749	R>H	A:138	(-20.07, 139.08, 5.96)
9:131600356	rs528324992	R>C	A:138	(-20.07, 139.08, 5.96)
9:131600331		P>L	A:146	(-6.62, 158.00, -4.24)
9:131600091		G>V	A:147	(-5.78, 161.95, -3.77)
9:131600092		G>S	A:147	(-5.78, 161.95, -3.77)
9:131600059		S>G	A:158	(0.20, 159.51, 2.16)
9:131600055		N>S	A:159	(-2.11, 161.19, -0.57)
9:131600051	rs370778524	W>C	A:160	(-3.98, 155.62, -1.95)
9:131600044		D>H	A:163	(-13.78, 158.36, 4.35)
9:131600041		P>S	A:164	(-13.93, 159.18, 7.94)
9:131600031		L>R	A:167	(-14.47, 153.32, 8.38)
9:131600026	rs572629163 COSM1314535	G>S	A:169	(-20.29, 152.29, 8.05)
9:131600016	rs559210769	T>R	A:172	(-22.02, 146.30, 12.17)
9:131600011	rs183682394	R>C	A:174	(-23.43, 140.60, 12.61)
9:131600007		T>I	A:175	(-17.92, 144.00, 13.65)
9:131599986		T>N	A:182	(0.90, 149.39, 9.24)
9:131599980		N>S	A:184	(-0.11, 148.53, 3.03)
9:131599976		N>K	A:185	(1.23, 144.52, 1.09)
9:131599977	rs368714723	N>S	A:185	(1.23, 144.52, 1.09)
9:131599968		G>D	A:188	(2.99, 151.53, 1.49)
9:131599964	rs576810843	K>N	A:189	(-0.51, 153.98, 3.89)
9:131599966		K>Q	A:189	(-0.51, 153.98, 3.89)
9:131599190		R>S	A:193	(-0.73, 159.17, 16.39)
9:131599191		R>T	A:193	(-0.73, 159.17, 16.39)
9:131599180	rs371853430	E>K	A:197	(-6.24, 158.45, 16.89)
9:131599147		V>M	A:208	(-13.85, 145.83, 17.62)
9:131599140	rs368068839	C>Y	A:210	(-7.26, 145.54, 15.88)
9:131599131		D>G	A:213	(0.01, 143.03, 9.75)
9:131599083		I>T	A:229	(-3.35, 150.77, 17.09)
9:131598341		G>S	A:234	(-6.97, 151.44, 25.29)
9:131598337	rs377580723	M>T	A:235	(-6.34, 149.93, 21.69)
9:131598328		R>Q	A:238	(-10.15, 146.67, 21.94)
9:131598329	rs529489908	R>W	A:238	(-10.15, 146.67, 21.94)
9:131598317	rs370634792	I>V	A:242	(1.11, 140.36, 13.78)
9:131598314		G>S	A:243	(5.11, 139.67, 13.42)
9:131598308		A>T	A:245	(11.46, 137.62, 11.37)
9:131598305	rs372483303	G>S	A:246	(11.60, 138.06, 7.96)
9:131598293		S>R	A:250	(16.07, 139.84, 5.55)
9:131598290		A>T	A:251	(14.63, 135.89, 6.57)
9:131598126	rs375126495	D>N	A:263	(-4.51, 136.84, 28.69)
9:131598120		I>V	A:265	(-7.63, 138.02, 23.15)
9:131598117	rs371772792	M>L	A:266	(-3.39, 135.73, 23.33)
9:131598104		R>Q	A:270	(-2.73, 130.84, 24.39)
9:131598105		R>W	A:270	(-2.73, 130.84, 24.39)
9:131598099		V>M	A:272	(-5.69, 127.57, 17.78)
9:131598096	rs575651890	H>Y	A:273	(-0.31, 127.03, 18.88)
9:131598072	rs368009186	P>T	A:281	(10.50, 125.50, 15.12)
9:131598068		T>M	A:282	(13.69, 125.31, 18.61)
9:131598066		Q>K	A:283	(17.15, 125.35, 16.12)
9:131597939	rs372740953	V>G	A:288	(14.98, 135.37, 16.16)
9:131597934	rs183808885	E>K	A:290	(21.17, 135.79, 18.78)
9:131597921	COSM138735	R>Q	A:294	(22.89, 143.20, 16.52)
9:131597922	rs369761548	R>W	A:294	(22.89, 143.20, 16.52)
9:131597913		L>V	A:297	(22.77, 146.06, 22.31)
9:131597903	rs370680048	R>H	A:300	(17.12, 154.81, 18.24)
9:131597894	rs557793663	S>N	A:303	(25.52, 149.78, 13.51)
9:131597873	rs374406437	P>L	A:310	(16.07, 151.32, 6.17)
9:131597865		M>V	A:313	(16.34, 149.28, 0.66)
9:131597858	rs139758426	R>H	A:315	(20.08, 153.90, -1.14)
9:131597852	rs373497046	R>H	A:317	(12.04, 154.46, -2.48)
9:131597844		M>V	A:320	(12.54, 151.02, -8.81)
9:131597837	rs200677798	R>H	A:322	(15.04, 157.62, -9.85)
9:131597838		R>C	A:322	(15.04, 157.62, -9.85)
9:131597831		L>P	A:324	(9.68, 152.25, -13.30)
9:131597826		S>A	A:326	(11.58, 156.53, -17.28)
9:131597808		I>V	A:332	(2.42, 155.38, -6.09)
9:131597796		G>R	A:336	(6.84, 151.59, 3.09)
9:131597787		F>L	A:339	(6.13, 145.88, -1.52)
9:131597679	rs146402491	R>G	A:349	(-4.83, 156.33, -22.37)
9:131597672		M>T	A:351	(-2.05, 149.06, -24.86)
9:131597667		D>N	A:353	(-7.64, 146.11, -26.67)
9:131597660		P>L	A:355	(-4.49, 139.54, -24.43)
9:131597657		G>E	A:356	(-8.05, 137.86, -22.22)
9:131597652	rs199760544	V>M	A:358	(-14.27, 137.73, -20.32)
9:131597649		D>N	A:359	(-14.75, 140.01, -16.64)
9:131597631		R>C	A:365	(-5.77, 142.18, -19.63)
9:131597628	rs200701038	F>L	A:366	(0.49, 145.40, -18.26)
9:131597625	rs201263319	V>I	A:367	(1.53, 141.61, -15.72)
9:131597619		W>R	A:369	(2.75, 143.61, -22.56)
9:131597615		M>R	A:370	(5.63, 143.23, -18.50)
9:131597611		I>M	A:371	(6.21, 138.60, -18.22)
9:131597612	rs562073603	I>T	A:371	(6.21, 138.60, -18.22)
9:131597605	rs372421745	N>K	A:373	(6.76, 141.40, -24.42)
9:131596099		V>L	A:377	(7.96, 140.32, -12.85)
9:131596092		I>T	A:379	(2.06, 141.73, -8.74)
9:131596090	rs181155432	P>S	A:380	(-1.56, 142.04, -10.25)
9:131596086		V>G	A:381	(-3.02, 145.57, -7.33)
9:131596074	rs75692348	Y>C	A:385	(-8.55, 145.79, -4.54)
9:131596055		K>N	A:391	(-14.88, 146.50, -12.09)
9:131596048	rs374080396	D>N	A:394	(-8.02, 147.74, -13.61)
9:131596035	rs138904709	R>H	A:398	(3.54, 144.12, -5.71)
9:131596036	rs186653130	R>C	A:398	(3.54, 144.12, -5.71)
9:131596032		F>Y	A:399	(7.06, 146.81, -9.26)
9:131596025		F>L	A:401	(11.92, 148.44, -3.10)
9:131595912		T>M	A:407	(18.54, 143.09, -9.78)
9:131595901	rs552579374	M>V	A:411	(15.40, 147.07, -13.76)
9:131595895		E>K	A:413	(19.53, 146.87, -19.77)
9:131595891		K>R	A:414	(14.94, 144.19, -19.47)
9:131595886	rs377314110 COSM203922	R>W	A:416	(18.40, 151.26, -20.32)
9:131595875		K>N	A:419	(12.45, 154.18, -23.55)

1W7N.A | CCBL1.

1W7N.A | CCBL1

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
9:131605043	COSM607754	V>M	A:31	(13.77, 140.98, -13.86)
9:131600088	COSM145197	P>L	A:148	(-6.14, 164.79, -5.64)
9:131600026	COSM1314535	G>S	A:169	(-20.29, 152.29, 8.05)
9:131598075	COSM3664132	C>R	A:280	(7.36, 126.35, 16.87)
9:131597853	COSM3432901	R>C	A:317	(12.04, 154.46, -2.48)