3L4G.B | FARSB

General Structure Information

PDB ID	3l4g
HGNC Gene Label(s)	FARSB
Structure Name	crystal structure of homo sapiens cytoplasmic phenylalanyl-trna synthetase
Resolution	3.3Å
Reference	AUTH I.FINAROV,N.MOOR,N.KESSLER,L.KLIPCAN,M.G.SAFROTITL STRUCTURE OF HUMAN CYTOSOLIC PHENYLALANYL-TRNA SYNTHETASE:TITL 2 EVIDENCE FOR KINGDOM-SPECIFIC DESIGN OF THE ACTIVE SITESTITL 3 AND TRNA BINDING PATTERNS.REF STRUCTURE V. 18 343 2010REFN ISSN 0969-2126PMID 20223217DOI 10.1016/J.STR.2010.01.002

Variant Set Distributions

ExAC Variants

Number Of Residues	589
Number Of SNVs	144
Number Of Permutations	42629
Optimal Distance Threshold	18.0
K Statistic	0.106
p-value	0.014

COSMIC

Number Of Residues	589
Number Of SNVs	5
Number Of Permutations	2879
Optimal Distance Threshold	5.0
K Statistic	0.1
p-value	0.778

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	144
Number Of COSMIC SNVs	5
Optimal Distance Threshold	5.0
K Statistic	0.097
p-value	1.0

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:223520789	rs372481653	P>S	B:2	(58.82, 91.46, 17.11)
2:223520785		T>I	B:3	(62.57, 93.82, 18.67)
2:223520786	rs576389020	T>P	B:3	(62.57, 93.82, 18.67)
2:223520780		S>R	B:5	(68.41, 92.84, 21.75)
2:223520768		D>H	B:9	(80.75, 90.90, 20.36)
2:223520765		L>V	B:10	(77.52, 86.87, 21.97)
2:223520755		Q>R	B:13	(81.47, 84.08, 19.96)
2:223520753	rs372695969	A>T	B:14	(77.57, 82.24, 18.10)
2:223520743		R>L	B:17	(81.38, 84.87, 9.93)
2:223520744	rs138500296	R>C	B:17	(81.38, 84.87, 9.93)
2:223520741		T>A	B:18	(83.22, 88.57, 11.56)
2:223513509	COSM1017037	E>K	B:22	(77.14, 96.61, 5.87)
2:223513506	COSM1177247	E>K	B:23	(78.81, 91.23, 5.93)
2:223513495	rs147949654	E>D	B:26	(72.40, 91.69, 3.15)
2:223513487	rs149134385	F>Y	B:29	(66.93, 91.96, 2.79)
2:223513466		D>V	B:36	(65.92, 98.79, 13.53)
2:223513467	rs535811358	D>H	B:36	(65.92, 98.79, 13.53)
2:223507717		E>G	B:41	(72.27, 100.16, 27.87)
2:223507697		E>K	B:48	(64.77, 107.59, 28.74)
2:223507691	rs150009576	G>R	B:50	(69.53, 113.02, 29.27)
2:223507688	rs369199202	N>H	B:51	(73.66, 112.30, 29.42)
2:223507684		V>G	B:52	(72.75, 109.67, 33.40)
2:223507675		A>G	B:55	(78.81, 102.79, 32.74)
2:223507663		D>V	B:59	(80.93, 99.75, 27.11)
2:223507646		I>F	B:65	(67.29, 92.03, 15.38)
2:223507640	rs139085353	V>I	B:67	(61.52, 89.25, 14.15)
2:223507624	rs200734924	Y>C	B:72	(56.16, 82.19, 17.48)
2:223507621		D>G	B:73	(61.86, 80.21, 16.03)
2:223507603		G>E	B:79	(67.41, 81.24, 17.56)
2:223507594	rs373010844	R>Q	B:82	(69.06, 76.99, 16.73)
2:223505640	rs139430746	P>S	B:94	(68.66, 70.67, 15.69)
2:223505630	rs200460731	K>T	B:97	(64.71, 63.32, 21.34)
2:223505594	COSM4091899	I>T	B:109	(47.57, 67.50, 39.34)
2:223504392		A>V	B:121	(47.79, 73.57, 31.96)
2:223504390		V>I	B:122	(51.32, 72.63, 30.26)
2:223504374	rs137968758	R>H	B:127	(67.12, 67.23, 34.80)
2:223504375		R>C	B:127	(67.12, 67.23, 34.80)
2:223504326	rs138484554	Q>R	B:143	(59.92, 84.08, 30.10)
2:223504322	COSM1017033	E>D	B:144	(58.73, 89.28, 29.33)
2:223504312	rs146902533	Q>E	B:148	(54.65, 91.04, 25.71)
2:223504305	rs200751930	I>T	B:150	(52.21, 84.76, 21.60)
2:223504306		I>L	B:150	(52.21, 84.76, 21.60)
2:223499253		A>S	B:155	(45.77, 86.45, 28.74)
2:223499241		I>V	B:159	(55.35, 81.43, 31.07)
2:223499215		L>F	B:167	(60.32, 72.41, 44.82)
2:223499213		S>L	B:168	(59.17, 68.41, 46.20)
2:223499208		P>S	B:170	(53.53, 65.83, 43.50)
2:223499186		R>H	B:177	(38.29, 82.44, 49.31)
2:223499187	rs548159804	R>C	B:177	(38.29, 82.44, 49.31)
2:223499171		K>T	B:182	(49.11, 82.75, 53.47)
2:223499142	rs146807481	Y>H	B:192	(52.43, 90.30, 51.36)
2:223499126		L>Q	B:197	(49.34, 90.89, 46.37)
2:223499117		I>T	B:200	(49.90, 95.70, 46.61)
2:223498019	rs555957732	N>S	B:205	(54.65, 100.78, 37.20)
2:223497997		H>Q	B:212	(41.45, 93.77, 37.89)
2:223497998		H>R	B:212	(41.45, 93.77, 37.89)
2:223497992		I>T	B:214	(43.33, 88.36, 33.82)
2:223497985	rs144110387	N>K	B:216	(37.64, 89.85, 39.07)
2:223497977	rs146768351	L>P	B:219	(38.45, 81.05, 42.29)
2:223497962		Y>C	B:224	(49.60, 74.79, 46.41)
2:223497963		Y>H	B:224	(49.60, 74.79, 46.41)
2:223497958	rs545727627	D>E	B:225	(54.40, 71.34, 46.60)
2:223497950		G>V	B:228	(52.96, 73.27, 50.21)
2:223497945	rs139596776	V>I	B:230	(53.60, 78.69, 46.70)
2:223497934		M>I	B:233	(49.20, 83.91, 41.55)
2:223496390		D>G	B:240	(61.18, 84.10, 46.20)
2:223496375		T>I	B:245	(69.25, 82.21, 39.59)
2:223496342	COSM239813	T>M	B:256	(48.75, 78.57, 32.91)
2:223494881		L>V	B:267	(56.21, 74.43, 26.53)
2:223494856		S>N	B:275	(67.60, 72.25, 25.06)
2:223494850		Y>C	B:277	(72.18, 76.40, 26.68)
2:223494848		C>S	B:278	(70.91, 70.69, 28.55)
2:223494834		F>L	B:282	(69.24, 70.08, 21.52)
2:223494832		T>M	B:283	(66.75, 66.80, 26.13)
2:223494833	rs377151075	T>A	B:283	(66.75, 66.80, 26.13)
2:223493606	rs141614708	V>I	B:284	(62.83, 67.77, 27.13)
2:223493596		A>G	B:287	(55.78, 65.72, 32.12)
2:223493594		E>K	B:288	(52.15, 62.91, 34.29)
2:223493579		N>D	B:293	(39.41, 63.86, 32.70)
2:223493563		T>I	B:298	(53.10, 63.36, 28.32)
2:223489481		R>Q	B:305	(52.99, 68.99, 11.20)
2:223489475		E>A	B:307	(52.00, 68.03, 5.73)
2:223489473		M>L	B:308	(52.87, 65.65, 0.63)
2:223489470		V>L	B:309	(54.13, 68.97, -1.05)
2:223489459	rs528896202	D>E	B:312	(54.89, 70.23, -9.43)
2:223489439		G>E	B:319	(58.01, 80.73, -10.00)
2:223489193	rs143319148	T>I	B:323	(64.63, 69.82, -8.84)
2:223489190		P>L	B:324	(62.34, 67.64, -6.71)
2:223489191		P>T	B:324	(62.34, 67.64, -6.71)
2:223489175	rs554768563	K>R	B:329	(68.49, 70.61, -1.06)
2:223489139	rs534074822	I>T	B:341	(58.57, 60.31, -1.69)
2:223489140		I>V	B:341	(58.57, 60.31, -1.69)
2:223489133	rs199579249	D>V	B:343	(57.88, 59.45, -7.40)
2:223489115		I>T	B:349	(57.57, 68.39, 4.59)
2:223489112		E>A	B:350	(59.93, 66.76, 9.68)
2:223489089		I>V	B:358	(53.85, 75.87, 9.22)
2:223489081		H>Q	B:360	(48.09, 75.97, 4.05)
2:223489043	rs560541569	G>A	B:373	(65.42, 83.90, -3.23)
2:223489038		N>D	B:375	(65.92, 88.79, -5.72)
2:223489031		I>T	B:377	(62.15, 84.71, -8.55)
2:223489026	rs200791140	M>V	B:379	(60.58, 89.59, -13.05)
2:223489022		T>S	B:380	(56.62, 86.85, -14.79)
2:223489002		I>V	B:387	(38.91, 96.24, -20.63)
2:223488993		Q>E	B:390	(36.81, 105.16, -14.68)
2:223488439		N>T	B:394	(35.39, 108.55, -8.83)
2:223488440		N>H	B:394	(35.39, 108.55, -8.83)
2:223488416		H>Y	B:402	(40.13, 119.11, -13.97)
2:223488409		M>T	B:404	(35.60, 123.88, -9.53)
2:223488392		T>A	B:410	(41.60, 126.28, -4.64)
2:223488389		E>K	B:411	(41.40, 120.89, -4.40)
2:223484419	rs200558081	D>G	B:430	(22.13, 119.53, 18.85)
2:223484414		S>A	B:432	(20.86, 115.59, 17.91)
2:223484410		A>V	B:433	(20.45, 116.86, 14.24)
2:223484408		T>A	B:434	(23.86, 115.76, 12.71)
2:223484395	rs371470405	H>P	B:438	(29.24, 109.82, 17.70)
2:223484396		H>Y	B:438	(29.24, 109.82, 17.70)
2:223484393		I>L	B:439	(34.45, 108.08, 17.43)
2:223484380		K>T	B:443	(43.50, 109.85, 21.23)
2:223478647		V>L	B:449	(32.45, 113.14, 14.83)
2:223478644		A>T	B:450	(32.45, 112.16, 11.17)
2:223478640		R>H	B:451	(33.92, 114.91, 6.73)
2:223478638	rs372366206	T>A	B:452	(28.17, 115.96, 8.31)
2:223478632		L>F	B:454	(32.87, 119.51, 3.36)
2:223478620		L>I	B:458	(36.68, 124.67, 3.62)
2:223478608	rs529537205	I>V	B:462	(39.98, 130.28, 5.60)
2:223478595	rs374382545	R>P	B:466	(43.97, 134.60, 9.22)
2:223478586		P>L	B:469	(45.42, 136.90, -0.84)
2:223478584		L>F	B:470	(41.75, 140.09, -1.69)
2:223478559	rs371021880	S>Y	B:478	(34.82, 114.61, -0.61)
2:223478554		I>V	B:480	(29.77, 113.01, 4.10)
2:223478545	COSM1206541	K>E	B:483	(23.35, 107.54, 11.57)
2:223478538	rs540384719	S>C	B:485	(18.99, 102.38, 9.02)
2:223478534		N>K	B:486	(18.63, 101.12, 5.14)
2:223478533	rs578043952	T>A	B:487	(23.44, 100.33, 5.69)
2:223464784		Y>C	B:494	(25.98, 110.51, 1.18)
2:223464757		N>S	B:503	(35.97, 138.95, 0.22)
2:223464745		G>E	B:507	(29.46, 136.13, -2.98)
2:223464738		E>D	B:509	(26.58, 137.37, -6.06)
2:223464703		L>S	B:521	(29.27, 121.75, -16.40)
2:223464698		D>N	B:523	(23.24, 118.97, -19.28)
2:223464691	rs186471122	P>L	B:525	(18.01, 121.95, -16.89)
2:223464655		A>V	B:537	(14.18, 130.13, -0.50)
2:223436724		G>R	B:546	(17.86, 135.83, 3.28)
2:223436720	rs1802198	R>Q	B:547	(21.10, 136.85, 2.05)
2:223436717		C>Y	B:548	(19.31, 130.85, 2.32)
2:223436709		I>V	B:551	(19.68, 123.18, -4.19)
2:223436703		A>S	B:553	(17.05, 118.13, -8.43)
2:223436696		G>D	B:555	(13.67, 114.88, -7.13)
2:223436688		V>I	B:558	(21.06, 118.51, -3.72)
2:223436669		L>P	B:564	(28.19, 131.74, 6.23)
2:223436658		V>I	B:568	(29.42, 130.55, 11.99)
2:223436643		E>Q	B:573	(38.74, 131.92, 15.31)
2:223436627	rs561882024	C>S	B:578	(31.06, 133.68, 3.85)
2:223436616		E>Q	B:582	(27.34, 121.40, 0.60)
2:223436607	rs7185	V>I	B:585	(27.75, 114.88, -6.80)
2:223436603	rs141988189	G>V	B:586	(25.08, 111.76, -6.77)
2:223436601		P>T	B:587	(22.04, 112.50, -7.47)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:223498023	COSM3046113	D>N	B:204	(53.54, 97.43, 40.04)
2:223489104	COSM1752380	P>S	B:353	(58.36, 72.04, 17.17)
2:223484441	COSM1641847	I>V	B:423	(29.26, 119.04, 12.88)
2:223464691	COSM1631862	P>L	B:525	(18.01, 121.95, -16.89)
2:223464670	COSM442388	G>E	B:532	(15.73, 120.15, -13.11)

3L4G.B | FARSB.

3L4G.B | FARSB

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