4C5W.A | BBOX1

General Structure Information

PDB ID	4c5w
HGNC Gene Label(s)	BBOX1
Structure Name	three dimensional structure of human gamma-butyrobetaine hydroxylase in complex with 4-(ethyldimethylammonio)butanoate
Resolution	1.7Å
Reference	AUTH K.TARS,J.LEITANS,A.KAZAKS,D.ZELENCOVA,E.LIEPINSH,J.KUKA,AUTH 2 M.MAKRECKA,D.LOLA,V.ANDRIANOVS,D.GUSTINA,S.GRINBERGA,AUTH 3 E.LIEPINSH,I.KALVINSH,M.DAMBROVA,E.LOZA,O.PUGOVICSTITL TARGETING CARNITINE BIOSYNTHESIS: DISCOVERY OF NEWTITL 2 INHIBITORS AGAINST GAMMA-BUTYROBETAINE HYDROXYLASE.REF J.MED.CHEM. V. 57 2213 2014REFN ISSN 0022-2623PMID 24571165DOI 10.1021/JM401603E

Variant Set Distributions

ExAC Variants

Number Of Residues	384
Number Of SNVs	99
Number Of Permutations	64670
Optimal Distance Threshold	21.0
K Statistic	0.291
p-value	0.066

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:27077014	rs200195953	G>R	A:13	(-14.66, 16.66, 132.44)
11:27077018	rs540166569	A>V	A:14	(-13.81, 19.81, 132.09)
11:27077020	rs141755764	H>Y	A:15	(-11.17, 17.58, 130.14)
11:27077030		Q>P	A:18	(-19.95, 24.11, 124.22)
11:27077054		E>A	A:26	(-22.43, 24.47, 118.96)
11:27077069		A>V	A:31	(-8.53, 22.91, 128.04)
11:27077093		P>L	A:39	(-3.79, 35.89, 127.31)
11:27077141	rs575442166	V>A	A:55	(5.63, 22.48, 127.78)
11:27077153		D>G	A:59	(-1.89, 19.52, 133.12)
11:27077171		K>I	A:65	(-12.07, 24.88, 139.18)
11:27077195		K>T	A:73	(-14.64, 38.60, 127.59)
11:27078754		I>V	A:76	(-11.32, 30.34, 132.77)
11:27078766	rs369796235	D>N	A:80	(-3.31, 26.20, 139.47)
11:27078769	rs147348000	E>K	A:81	(-5.96, 29.46, 142.28)
11:27078776		Y>C	A:83	(-8.32, 34.74, 135.58)
11:27078779		S>N	A:84	(-7.89, 32.96, 132.08)
11:27078802		K>Q	A:92	(-15.74, 32.36, 115.88)
11:27078817		S>T	A:97	(-14.13, 23.84, 112.39)
11:27078825		Q>H	A:99	(-16.04, 25.33, 107.35)
11:27114723		Y>N	A:115	(-2.81, 25.22, 87.38)
11:27114730	rs201115771	G>V	A:117	(-0.71, 28.04, 79.12)
11:27114738		L>F	A:120	(-0.45, 33.44, 79.69)
11:27114743	rs143521523	Q>H	A:121	(-3.24, 37.05, 78.92)
11:27114747	rs374702245	P>S	A:123	(0.66, 39.31, 84.23)
11:27114754		L>W	A:125	(2.03, 45.99, 86.77)
11:27114756		D>N	A:126	(4.47, 50.59, 86.30)
11:27114760		F>S	A:127	(9.58, 49.43, 88.47)
11:27114767		D>E	A:129	(3.07, 52.44, 89.93)
11:27114778		Y>C	A:133	(1.43, 54.14, 94.22)
11:27114789		A>T	A:137	(2.33, 45.91, 95.44)
11:27114792		Y>H	A:138	(-2.34, 43.05, 97.38)
11:27114808		T>I	A:143	(-0.53, 38.06, 90.66)
11:27114819		V>I	A:147	(-0.24, 33.38, 88.00)
11:27114828		V>I	A:150	(4.43, 39.68, 87.23)
11:27114840	rs369036091	G>R	A:154	(9.45, 50.98, 83.19)
11:27114841		G>E	A:154	(9.45, 50.98, 83.19)
11:27114847		S>Y	A:156	(15.83, 51.36, 83.96)
11:27114855	rs189326463	P>A	A:159	(22.14, 48.74, 86.74)
11:27114871		K>T	A:164	(14.83, 49.78, 93.31)
11:27114876	COSM4032204	G>R	A:166	(13.85, 44.01, 97.36)
11:27114879		K>E	A:167	(15.13, 47.26, 99.68)
11:27114885	rs541645607	M>L	A:169	(10.34, 42.31, 98.57)
11:27114888		G>R	A:170	(13.02, 43.48, 101.97)
11:27114889		G>V	A:170	(13.02, 43.48, 101.97)
11:27114913	rs199849025	G>E	A:178	(25.21, 37.11, 94.58)
11:27137000	rs142898069	H>Y	A:179	(23.97, 40.41, 97.08)
11:27137003		T>A	A:180	(22.85, 40.98, 92.08)
11:27137006		W>R	A:181	(21.96, 37.11, 89.09)
11:27137027		D>N	A:188	(36.44, 31.51, 81.19)
11:27137064	rs202107611	S>N	A:200	(16.35, 24.39, 78.55)
11:27137067	rs550667973	F>S	A:201	(11.67, 24.88, 79.71)
11:27137075		D>H	A:204	(17.25, 28.83, 88.88)
11:27137078		Y>N	A:205	(21.24, 27.83, 92.87)
11:27137081		P>A	A:206	(18.73, 22.89, 91.79)
11:27137082		P>Q	A:206	(18.73, 22.89, 91.79)
11:27141196	rs140165200	V>I	A:214	(11.12, 34.58, 93.84)
11:27141217		K>Q	A:221	(21.64, 45.31, 76.03)
11:27141233	COSM395443	G>A	A:226	(17.60, 36.40, 70.04)
11:27141236		G>D	A:227	(16.58, 35.67, 73.39)
11:27141241		S>T	A:229	(11.70, 34.25, 76.76)
11:27141250		V>I	A:232	(6.16, 26.29, 81.77)
11:27141262	rs572146172	N>H	A:236	(-0.53, 22.45, 84.19)
11:27141266	rs542815680	V>A	A:237	(3.20, 19.92, 83.23)
11:27141278		L>P	A:241	(3.04, 13.49, 83.54)
11:27141307	rs146781203	I>V	A:251	(9.98, 7.57, 88.14)
11:27141312	rs140561347	L>F	A:252	(10.16, 12.15, 87.95)
11:27141317	rs377359383	S>C	A:254	(10.54, 8.79, 93.63)
11:27141320		T>I	A:255	(13.99, 9.54, 91.84)
11:27141323		F>S	A:256	(16.03, 11.58, 95.93)
11:27141326		V>A	A:257	(18.43, 13.81, 91.26)
11:27141328		D>N	A:258	(22.59, 14.03, 92.67)
11:27141338		D>G	A:261	(27.74, 24.44, 91.24)
11:27141341	rs150426701	I>T	A:262	(32.09, 23.17, 91.30)
11:27141346		V>M	A:264	(34.64, 31.13, 91.66)
11:27141353		Y>F	A:266	(30.02, 36.91, 97.03)
11:27141355	rs554518719	C>R	A:267	(32.64, 32.72, 96.93)
11:27141382		K>E	A:276	(12.14, 14.35, 95.03)
11:27141389	rs199610433	I>T	A:278	(8.08, 15.88, 90.69)
11:27147215	rs201043491	G>V	A:284	(0.46, 14.60, 96.75)
11:27147220	rs200378585	V>M	A:286	(3.13, 19.44, 93.27)
11:27147227	rs202026071 COSM77330	R>H	A:288	(10.20, 22.44, 95.39)
11:27147239		N>S	A:292	(19.18, 22.74, 85.76)
11:27147244		A>T	A:294	(23.25, 21.84, 83.73)
11:27147256	COSM542331	T>A	A:298	(27.83, 12.96, 86.46)
11:27147275		V>A	A:304	(21.71, -0.12, 86.83)
11:27147326		M>T	A:321	(7.97, 21.23, 79.41)
11:27147359		M>T	A:332	(12.61, 40.63, 77.99)
11:27147361		N>H	A:333	(11.99, 44.78, 75.65)
11:27148862		N>K	A:342	(12.06, 29.11, 90.79)
11:27148865		W>C	A:343	(9.65, 26.81, 95.33)
11:27148866	COSM3687244	R>C	A:344	(3.89, 27.44, 89.37)
11:27148867		R>H	A:344	(3.89, 27.44, 89.37)
11:27148877	rs137894032	H>Q	A:347	(13.41, 29.56, 83.48)
11:27148882	COSM687632	R>Q	A:349	(18.58, 31.68, 77.00)
11:27148885	rs117367252	R>H	A:350	(14.31, 31.35, 71.71)
11:27148905		E>Q	A:357	(29.38, 44.74, 71.58)
11:27148911	rs201576660	S>T	A:359	(24.25, 41.94, 72.89)
11:27148912		S>F	A:359	(24.25, 41.94, 72.89)
11:27148914		R>C	A:360	(20.99, 39.08, 76.33)
11:27148915	rs372189890	R>H	A:360	(20.99, 39.08, 76.33)
11:27148930		A>V	A:365	(17.62, 38.16, 91.73)
11:27148944		D>H	A:370	(8.79, 32.90, 103.77)
11:27148948		V>A	A:371	(10.37, 37.50, 102.47)
11:27148981		R>T	A:382	(-0.54, 49.34, 104.70)
11:27148982	rs375535107 COSM428868 COSM120837	R>S	A:382	(-0.54, 49.34, 104.70)
11:27148983		V>L	A:383	(-4.97, 47.95, 100.93)