1S5O.A | CRAT – ASTRID

1S5O.A | CRAT

General Structure Information

PDB ID	1s5o
HGNC Gene Label(s)	CRAT
Structure Name	structural and mutational characterization of l-carnitine binding to human carnitine acetyltransferase
Resolution	1.8Å
Reference	AUTH L.GOVINDASAMY,T.KUKAR,W.LIAN,B.PEDERSEN,Y.GU,AUTH 2 M.AGBANDJE-MCKENNA,S.JIN,R.MCKENNA,D.WUTITL STRUCTURAL AND MUTATIONAL CHARACTERIZATION OFTITL 2 L-CARNITINE BINDING TO HUMAN CARNITINETITL 3 ACETYLTRANSFERASE.REF J.STRUCT.BIOL. V. 146 416 2004REFN ISSN 1047-8477PMID 15099582DOI 10.1016/J.JSB.2004.01.011

Variant Set Distributions

ExAC Variants

Number Of Residues	586
Number Of SNVs	162
Number Of Permutations	36963
Optimal Distance Threshold	12.0
K Statistic	0.049
p-value	0.147

COSMIC

Number Of Residues	586
Number Of SNVs	10
Number Of Permutations	10288
Optimal Distance Threshold	13.0
K Statistic	0.156
p-value	0.647

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	162
Number Of COSMIC SNVs	10
Optimal Distance Threshold	13.0
K Statistic	0.093
p-value	0.528

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:131870274	COSM400103	R>Q	A:16	(51.06, 12.55, -5.12)
9:131870275	rs560724931	R>W	A:16	(51.06, 12.55, -5.12)
9:131870266	rs368543684	V>M	A:19	(40.26, 13.43, -5.17)
9:131870263		P>S	A:20	(37.60, 13.10, -2.58)
9:131870257		L>F	A:22	(31.10, 13.77, -5.57)
9:131870242		D>H	A:27	(26.79, 12.33, 1.64)
9:131870212		V>M	A:37	(20.65, 24.54, 8.46)
9:131870200		E>K	A:41	(17.65, 26.37, 4.98)
9:131870190		H>R	A:44	(16.73, 24.20, -1.44)
9:131870149		V>I	A:58	(27.56, 20.22, -12.92)
9:131870140		R>C	A:61	(31.65, 18.61, -16.58)
9:131870120	rs139321162	E>D	A:67	(39.66, 12.81, -10.88)
9:131870122		E>K	A:67	(39.66, 12.81, -10.88)
9:131870118		R>H	A:68	(41.19, 16.02, -15.74)
9:131870119	rs150820288	R>S	A:68	(41.19, 16.02, -15.74)
9:131870115	rs374627309	R>Q	A:69	(44.48, 20.18, -10.96)
9:131870116		R>W	A:69	(44.48, 20.18, -10.96)
9:131870103	rs201778516 COSM3382371	T>M	A:73	(49.53, 17.89, -10.01)
9:131870096	COSM1314552	N>K	A:75	(49.01, 18.97, -4.34)
9:131866561		A>T	A:85	(43.99, 31.92, 1.50)
9:131866558		Y>D	A:86	(46.98, 32.52, 2.69)
9:131866548	rs141970897	Y>C	A:89	(42.45, 37.92, 2.26)
9:131866545	rs558760605	R>H	A:90	(44.65, 42.20, -1.44)
9:131866527	rs138099517	Y>F	A:96	(42.64, 40.68, 9.77)
9:131866513	rs141699474	V>M	A:101	(53.81, 32.92, 19.21)
9:131866510		M>V	A:102	(53.05, 34.28, 24.07)
9:131866506		L>P	A:103	(57.57, 32.50, 24.26)
9:131866500		K>R	A:105	(58.53, 36.78, 30.89)
9:131866483		L>M	A:111	(70.66, 45.59, 27.10)
9:131866476		G>D	A:113	(70.21, 39.80, 28.50)
9:131866477		G>S	A:113	(70.21, 39.80, 28.50)
9:131866467	rs200112308	R>Q	A:116	(74.51, 37.89, 25.99)
9:131865326		E>K	A:123	(73.49, 30.10, 17.19)
9:131865312		D>E	A:127	(71.93, 24.70, 14.70)
9:131865314	COSM1755987	D>H	A:127	(71.93, 24.70, 14.70)
9:131865305		V>F	A:130	(72.38, 23.01, 9.40)
9:131865302		M>V	A:131	(68.96, 20.41, 9.91)
9:131865298		I>T	A:132	(66.85, 23.51, 6.67)
9:131864843	rs374077277 COSM1202241	E>K	A:135	(67.45, 18.49, 2.59)
9:131864839		T>N	A:136	(69.27, 16.76, 7.64)
9:131864831	rs143158365	V>M	A:139	(61.28, 12.60, 9.30)
9:131864803		C>Y	A:148	(55.79, 16.59, 4.48)
9:131864800		M>R	A:149	(59.53, 17.83, 6.29)
9:131864786	COSM1314551	Q>E	A:154	(59.17, 27.16, 2.44)
9:131864767		R>Q	A:160	(53.20, 38.32, 1.47)
9:131864761		P>L	A:162	(53.84, 43.60, -2.17)
9:131864758		G>A	A:163	(50.82, 43.58, -5.22)
9:131864744	rs377397536 COSM3413375	T>A	A:168	(54.41, 37.08, -4.14)
9:131864728	rs547305156	S>N	A:173	(66.89, 29.41, 0.67)
9:131864696	rs199855222	V>M	A:184	(67.96, 43.72, 13.59)
9:131864336		F>I	A:190	(64.83, 47.96, 9.75)
9:131864310	rs376369693	S>R	A:198	(84.35, 34.32, 5.42)
9:131864309		D>N	A:199	(84.61, 30.45, 7.24)
9:131864305		G>A	A:200	(80.97, 29.62, 7.03)
9:131864306	rs368593020	G>R	A:200	(80.97, 29.62, 7.03)
9:131864299		P>R	A:202	(78.78, 30.21, 12.45)
9:131864278	rs372395394	F>S	A:209	(76.36, 40.77, 23.02)
9:131864271		Q>H	A:211	(77.85, 43.02, 16.02)
9:131864267		E>Q	A:213	(76.34, 45.87, 22.17)
9:131864235	COSM1739553	N>K	A:223	(62.84, 60.86, 15.99)
9:131864225		V>L	A:227	(58.87, 52.50, 7.17)
9:131864215		L>P	A:230	(53.95, 50.91, 5.33)
9:131864200	rs202114201	R>H	A:235	(48.75, 43.54, 1.23)
9:131864201		R>C	A:235	(48.75, 43.54, 1.23)
9:131864198		N>H	A:236	(45.46, 46.97, -2.51)
9:131864194		S>Y	A:237	(47.41, 50.24, 0.27)
9:131864189		A>P	A:239	(51.25, 47.98, -3.05)
9:131864185		K>R	A:240	(50.51, 53.00, -3.47)
9:131864182		A>V	A:241	(53.51, 52.30, -0.69)
9:131864183	rs147944652	A>T	A:241	(53.51, 52.30, -0.69)
9:131864173	rs367866636	T>N	A:244	(56.38, 55.06, -3.40)
9:131862954	rs537252245 COSM39990	D>H	A:253	(69.24, 48.64, -1.28)
9:131862948		V>M	A:255	(63.42, 46.49, 1.18)
9:131862944	rs146338921	R>H	A:256	(67.06, 44.46, -2.80)
9:131862945	rs377014991 COSM1460388	R>C	A:256	(67.06, 44.46, -2.80)
9:131862926		I>T	A:262	(67.96, 34.29, 7.43)
9:131862918	rs148136870	V>M	A:265	(65.26, 40.21, 15.36)
9:131862903	rs145822836	T>A	A:270	(58.21, 48.13, 27.05)
9:131862899	rs368878335	M>T	A:271	(54.01, 47.82, 25.95)
9:131862893	rs565710301	R>K	A:273	(49.17, 52.20, 32.71)
9:131862894		R>G	A:273	(49.17, 52.20, 32.71)
9:131862885		E>K	A:276	(47.75, 44.29, 37.08)
9:131862878		V>E	A:278	(45.19, 43.07, 30.74)
9:131862879	rs552235102	V>M	A:278	(45.19, 43.07, 30.74)
9:131862872		R>H	A:280	(49.63, 35.69, 29.01)
9:131862864	rs376896872	V>M	A:283	(52.07, 40.46, 25.31)
9:131862861		A>T	A:284	(49.50, 39.01, 22.54)
9:131862837	COSM1755986	G>S	A:292	(51.01, 50.40, 17.93)
9:131862812	rs138665095	R>H	A:300	(57.32, 44.68, 14.09)
9:131862804		D>N	A:303	(55.77, 41.24, 4.26)
9:131862797		T>M	A:305	(58.08, 34.50, 6.92)
9:131862229		D>G	A:313	(59.48, 43.00, 29.41)
9:131862220		C>Y	A:316	(59.15, 36.84, 24.04)
9:131862221		C>R	A:316	(59.15, 36.84, 24.04)
9:131862206		E>K	A:321	(53.29, 35.25, 6.26)
9:131862199	rs141744672	A>G	A:323	(51.42, 31.81, 2.87)
9:131862196	rs372158097	A>V	A:324	(53.90, 29.01, 3.27)
9:131862197		A>T	A:324	(53.90, 29.01, 3.27)
9:131862193		A>V	A:325	(53.02, 28.47, 6.63)
9:131862194	rs200277103	A>T	A:325	(53.02, 28.47, 6.63)
9:131862187	rs548494205	G>E	A:327	(52.19, 25.98, 12.83)
9:131862188		G>R	A:327	(52.19, 25.98, 12.83)
9:131862169		L>P	A:333	(61.85, 26.31, 14.52)
9:131862163	rs148000421	D>V	A:335	(60.15, 23.83, 20.46)
9:131862164	rs528442566	D>N	A:335	(60.15, 23.83, 20.46)
9:131862155	rs373965338	I>V	A:338	(63.84, 27.70, 23.16)
9:131862152	rs146958522	E>K	A:339	(66.64, 22.70, 23.47)
9:131862146	rs376516491	T>P	A:341	(68.71, 28.61, 24.29)
9:131860918		E>G	A:345	(78.40, 27.32, 23.64)
9:131860909	rs527857954	R>Q	A:348	(84.45, 31.83, 22.43)
9:131860910	COSM1460387	R>W	A:348	(84.45, 31.83, 22.43)
9:131860889	rs145796295	P>S	A:355	(82.13, 44.33, 11.19)
9:131860877	rs149214173	K>E	A:359	(71.26, 52.17, 9.76)
9:131860855		P>L	A:366	(56.25, 64.15, 1.42)
9:131860853		E>K	A:367	(54.36, 60.37, -1.46)
9:131860835	rs145415027	E>K	A:373	(50.65, 59.18, 9.24)
9:131860814		S>R	A:380	(44.66, 52.23, 14.96)
9:131860628		T>A	A:389	(41.94, 36.36, 25.76)
9:131860624		V>A	A:390	(45.32, 34.53, 27.09)
9:131860625	rs182284225	V>M	A:390	(45.32, 34.53, 27.09)
9:131860622		M>V	A:391	(42.52, 30.60, 29.07)
9:131860609		H>R	A:395	(41.59, 23.21, 36.32)
9:131860596	rs201109466	D>E	A:399	(45.81, 14.46, 32.04)
9:131860593		F>L	A:400	(40.29, 13.62, 32.24)
9:131860585	rs150028237	S>L	A:403	(41.99, 8.81, 31.68)
9:131860574	rs566951989	S>R	A:407	(40.86, 12.67, 22.19)
9:131860562	rs140551503	F>L	A:411	(37.30, 16.71, 26.32)
9:131860531		Y>C	A:421	(23.66, 25.44, 22.85)
9:131860419		G>E	A:425	(21.46, 28.37, 21.44)
9:131860407		A>V	A:429	(30.17, 27.21, 11.99)
9:131860383	rs143682956	R>H	A:437	(52.95, 17.18, 7.43)
9:131860380	rs375539446	M>T	A:438	(50.06, 11.61, 5.97)
9:131860365		R>H	A:443	(49.40, 23.93, 3.65)
9:131860366		R>C	A:443	(49.40, 23.93, 3.65)
9:131860350		R>H	A:448	(32.72, 21.50, 9.21)
9:131860351	rs540730402 COSM1249094	R>C	A:448	(32.72, 21.50, 9.21)
9:131860344		A>D	A:450	(29.48, 20.98, 14.19)
9:131860341		S>C	A:451	(27.67, 17.59, 14.93)
9:131860339	rs146054379	M>V	A:452	(23.48, 16.26, 14.94)
9:131860330		L>F	A:455	(23.39, 19.61, 18.68)
9:131860311	rs148682033	M>T	A:461	(25.16, 18.71, 29.60)
9:131860312	rs142832186	M>V	A:461	(25.16, 18.71, 29.60)
9:131860306	rs374685866	D>Y	A:463	(17.91, 18.45, 30.16)
9:131860297	rs144169020	V>I	A:466	(18.60, 13.82, 30.68)
9:131860293		T>M	A:467	(20.00, 10.41, 32.45)
9:131859578		V>G	A:472	(28.12, 10.02, 29.61)
9:131859575		E>G	A:473	(25.65, 7.31, 26.44)
9:131859566	rs375621196	R>Q	A:476	(32.65, 8.41, 25.88)
9:131859567	rs547280982	R>W	A:476	(32.65, 8.41, 25.88)
9:131859545	rs372470432	R>Q	A:483	(38.41, 9.75, 16.69)
9:131858408		R>C	A:491	(43.46, 9.17, 7.27)
9:131858405		G>R	A:492	(41.56, 12.87, 2.93)
9:131858398		A>G	A:494	(37.38, 15.60, 4.06)
9:131858389		R>Q	A:497	(40.11, 22.45, 1.70)
9:131858380		L>Q	A:500	(37.47, 25.20, -2.84)
9:131858359		I>T	A:507	(36.59, 29.20, -12.42)
9:131858351		L>V	A:510	(34.69, 28.53, -18.70)
9:131858339		P>S	A:514	(27.95, 25.95, -8.81)
9:131858336		D>N	A:515	(23.24, 26.31, -7.76)
9:131858325		M>I	A:518	(25.16, 30.41, -5.23)
9:131858322		D>E	A:519	(22.82, 27.59, -0.87)
9:131858312	rs138759626	A>T	A:523	(27.33, 30.66, 3.55)
9:131858295		F>L	A:528	(33.78, 28.94, 9.70)
9:131857874		D>E	A:540	(54.39, 26.80, 28.11)
9:131857867	COSM1460385	M>V	A:543	(49.42, 30.18, 18.30)
9:131857858		G>R	A:546	(41.90, 36.15, 14.15)
9:131857852	COSM3654801	V>M	A:548	(37.46, 34.44, 10.01)
9:131857843	rs370126379	D>N	A:551	(30.11, 37.23, 13.70)
9:131857840	rs201468277 COSM3847815	G>S	A:552	(33.60, 35.74, 15.61)
9:131857834	rs148153787	G>S	A:554	(39.55, 32.79, 17.76)
9:131857831		V>I	A:555	(40.09, 29.36, 19.22)
9:131857824		Y>C	A:557	(43.79, 24.32, 21.26)
9:131857815	rs535578765	M>T	A:560	(50.74, 20.92, 27.80)
9:131857773		C>F	A:574	(30.26, 42.24, 17.57)
9:131857770		A>V	A:575	(28.41, 43.17, 20.80)
9:131857771		A>T	A:575	(28.41, 43.17, 20.80)
9:131857768		E>K	A:576	(26.28, 39.82, 19.82)
9:131857765	rs181730785	T>A	A:577	(31.40, 38.90, 20.36)
9:131857759		A>T	A:579	(36.58, 36.72, 24.47)
9:131857755		A>D	A:580	(36.35, 36.67, 28.00)
9:131857756	COSM3904666	A>T	A:580	(36.35, 36.67, 28.00)
9:131857746		A>V	A:583	(36.80, 31.80, 28.06)
9:131857743		H>R	A:584	(33.78, 31.70, 32.26)
9:131857737		L>P	A:586	(36.02, 26.92, 27.38)
9:131857717		M>V	A:593	(32.99, 17.61, 29.95)
9:131857714	rs143822726	R>C	A:594	(37.01, 17.01, 35.35)
9:131857710		A>D	A:595	(32.41, 16.03, 36.25)

1S5O.A | CRAT.

1S5O.A | CRAT

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:131870139	COSM291118	R>H	A:61	(31.65, 18.61, -16.58)
9:131865314	COSM1755987	D>N	A:127	(71.93, 24.70, 14.70)
9:131864290	COSM421939	A>V	A:205	(77.08, 34.19, 20.70)
9:131862837	COSM1755986	G>S	A:292	(51.01, 50.40, 17.93)
9:131860910	COSM1460387	R>W	A:348	(84.45, 31.83, 22.43)
9:131860901	COSM4163404	L>M	A:351	(88.51, 36.76, 19.39)
9:131860315	COSM145264	A>P	A:460	(21.51, 17.35, 27.01)
9:131857840	COSM3847815	G>S	A:552	(33.60, 35.74, 15.61)
9:131857770	COSM3328207	A>V	A:575	(28.41, 43.17, 20.80)
9:131857756	COSM3904666	A>T	A:580	(36.35, 36.67, 28.00)