2HLZ.B | KHK – ASTRID

2HLZ.B | KHK

General Structure Information

PDB ID	2hlz
HGNC Gene Label(s)	KHK
Structure Name	crystal structure of human ketohexokinase (casp target)
Resolution	1.85Å
Reference	AUTH W.M.RABEH,W.TEMPEL,L.NEDYALKOVA,R.LANDRY,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,M.SUNDSTROM,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF HUMAN KETOHEXOKINASE (CASPTITL 2 TARGET)REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	291
Number Of SNVs	95
Number Of Permutations	16612
Optimal Distance Threshold	6.0
K Statistic	0.018
p-value	0.994

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:27310161		V>M	B:12	(-23.43, 37.25, 78.72)
2:27310180		S>N	B:18	(-20.97, 19.73, 85.74)
2:27310191		K>E	B:22	(-22.08, 12.64, 95.45)
2:27310206		D>N	B:27	(-8.94, 15.90, 98.14)
2:27315201		C>G	B:32	(-19.21, 13.66, 85.26)
2:27315208		S>Y	B:34	(-23.01, 15.31, 82.26)
2:27315211	rs143419158	Q>R	B:35	(-19.61, 18.60, 80.81)
2:27315223	rs200514692 COSM123895	R>H	B:39	(-27.36, 31.81, 76.58)
2:27315225	rs104893643	G>R	B:40	(-26.03, 33.02, 80.49)
2:27315234	rs104893644	A>T	B:43	(-30.55, 39.07, 80.93)
2:27315235		A>V	B:43	(-30.55, 39.07, 80.93)
2:27315241		N>T	B:45	(-31.10, 33.37, 81.01)
2:27315247		C>Y	B:47	(-34.08, 36.67, 76.53)
2:27315252	rs2304681	V>I	B:49	(-37.70, 32.29, 79.14)
2:27315264	rs200431044 COSM1019507 COSM1019506	L>F	B:53	(-43.04, 32.53, 76.77)
2:27315292		S>L	B:62	(-21.00, 43.31, 76.67)
2:27315297		A>T	B:64	(-15.90, 39.65, 72.93)
2:27315298		A>D	B:64	(-15.90, 39.65, 72.93)
2:27315300	COSM232602 COSM232603	P>S	B:65	(-13.83, 39.02, 70.35)
2:27317364	rs201995559	R>C	B:77	(-28.92, 31.81, 65.52)
2:27317365	COSM1494925	R>H	B:77	(-28.92, 31.81, 65.52)
2:27317367		R>C	B:78	(-29.66, 27.86, 67.53)
2:27317370		Y>H	B:79	(-33.41, 30.37, 71.93)
2:27317376	rs200318560	V>M	B:81	(-32.40, 37.07, 70.62)
2:27317386	COSM4093464	R>H	B:84	(-28.66, 47.11, 66.92)
2:27317391		T>P	B:86	(-24.69, 43.58, 70.98)
2:27317394	rs187413849	V>I	B:87	(-21.53, 46.28, 72.96)
2:27317399		F>L	B:88	(-19.00, 43.39, 69.92)
2:27317409		G>S	B:92	(-11.80, 41.32, 77.40)
2:27317415		V>I	B:94	(-17.28, 36.40, 78.16)
2:27317424	rs565695602	A>T	B:97	(-19.59, 29.73, 84.99)
2:27317428	rs148370039	T>M	B:98	(-17.93, 26.55, 86.80)
2:27317451		G>S	B:106	(-30.56, 20.73, 92.04)
2:27317452		G>D	B:106	(-30.56, 20.73, 92.04)
2:27317454		S>G	B:107	(-27.94, 21.99, 93.55)
2:27317457	rs141417422	R>C	B:108	(-27.02, 27.13, 91.95)
2:27317458	rs138367050	R>H	B:108	(-27.02, 27.13, 91.95)
2:27317469	rs201650300	Y>H	B:112	(-18.38, 34.55, 87.94)
2:27317479		R>K	B:115	(-12.60, 36.38, 80.81)
2:27319598		S>G	B:116	(-12.15, 42.20, 82.71)
2:27319614		S>C	B:121	(-22.68, 52.85, 78.81)
2:27319648	rs147580406	Q>H	B:132	(-37.19, 49.00, 68.73)
2:27319649		F>L	B:133	(-37.73, 48.34, 72.75)
2:27320374	rs562642551	R>W	B:141	(-22.54, 44.99, 86.82)
2:27320375		R>Q	B:141	(-22.54, 44.99, 86.82)
2:27320387		E>V	B:145	(-23.72, 54.75, 83.91)
2:27320395	rs533090879	K>E	B:148	(-27.23, 58.30, 83.68)
2:27320408	rs377146926 COSM1019509 COSM1019508	R>Q	B:152	(-33.06, 57.75, 77.14)
2:27320413		D>N	B:154	(-38.28, 58.11, 83.12)
2:27320416		A>T	B:155	(-37.99, 61.29, 79.70)
2:27320420		H>L	B:156	(-39.51, 58.24, 75.80)
2:27320423	rs150233686	N>T	B:157	(-42.21, 57.61, 79.21)
2:27320426		T>N	B:158	(-42.60, 62.64, 79.60)
2:27320429		R>K	B:159	(-41.15, 62.95, 75.47)
2:27320443		Q>K	B:164	(-46.65, 54.69, 73.95)
2:27320445		Q>H	B:164	(-46.65, 54.69, 73.95)
2:27320455		V>L	B:168	(-39.33, 49.68, 83.58)
2:27320456		V>G	B:168	(-39.33, 49.68, 83.58)
2:27320476		P>S	B:175	(-24.93, 41.30, 97.18)
2:27320480	rs143669793	R>Q	B:176	(-23.51, 45.71, 96.02)
2:27320501		F>S	B:183	(-34.54, 49.22, 95.09)
2:27320504	rs142728562	G>V	B:184	(-36.22, 54.12, 92.40)
2:27320507	rs138841298	Y>F	B:185	(-34.97, 54.84, 89.30)
2:27320509	rs372208973	G>R	B:186	(-39.52, 51.36, 88.09)
2:27320515	rs41288797	V>M	B:188	(-41.31, 46.06, 88.41)
2:27322073		S>C	B:192	(-32.85, 38.25, 95.38)
2:27322079		D>H	B:194	(-28.80, 36.06, 97.96)
2:27322109	COSM4093466 COSM4093465	A>P	B:204	(-40.49, 37.64, 101.40)
2:27322115	rs571894321	E>K	B:206	(-38.62, 40.34, 106.61)
2:27322136	COSM385158 COSM385159	G>C	B:213	(-39.29, 52.64, 100.67)
2:27322139		R>C	B:214	(-34.76, 51.79, 99.61)
2:27322140	rs61735561	R>H	B:214	(-34.76, 51.79, 99.61)
2:27322151		G>R	B:218	(-46.34, 52.69, 92.08)
2:27322152	rs139475529	G>A	B:218	(-46.34, 52.69, 92.08)
2:27322289		A>P	B:219	(-44.13, 50.48, 92.48)
2:27322292		V>L	B:220	(-44.50, 46.46, 92.08)
2:27322304		A>S	B:224	(-38.63, 35.10, 95.10)
2:27322307		W>G	B:225	(-37.54, 33.33, 100.01)
2:27322313		E>K	B:227	(-38.98, 26.51, 98.75)
2:27322318	rs148627840	E>D	B:228	(-41.74, 29.10, 100.59)
2:27322322		A>T	B:230	(-43.86, 34.49, 95.41)
2:27322325	rs139948811	D>N	B:231	(-44.34, 37.30, 97.80)
2:27322328	COSM720661 COSM720662	A>T	B:232	(-45.91, 41.10, 96.00)
2:27322332		L>R	B:233	(-45.80, 45.09, 98.17)
2:27322352	rs567971261	L>F	B:240	(-49.86, 39.79, 96.49)
2:27322371	rs368056714	P>L	B:246	(-43.13, 21.81, 93.14)
2:27322379	rs199989985 COSM3839250 COSM3839251	R>C	B:249	(-37.72, 15.86, 90.31)
2:27322380	rs549772974 COSM331319 COSM331320	R>H	B:249	(-37.72, 15.86, 90.31)
2:27322388	rs371516742	D>H	B:252	(-31.61, 22.49, 86.76)
2:27322404		G>E	B:257	(-35.09, 33.24, 88.46)
2:27322416		N>S	B:261	(-37.70, 37.42, 86.73)
2:27322421		S>T	B:263	(-42.52, 34.73, 83.44)
2:27322424	rs114353144	V>I	B:264	(-43.45, 38.24, 85.87)
2:27322427		I>L	B:265	(-41.68, 40.51, 82.44)
2:27322445	rs202164115 COSM144814 COSM144815	G>R	B:271	(-52.22, 42.34, 81.23)
2:27322538	rs61735560	S>G	B:273	(-52.58, 40.32, 87.49)
2:27322539	rs575951862	S>N	B:273	(-52.58, 40.32, 87.49)
2:27322541	rs138164728	V>M	B:274	(-49.42, 41.13, 90.19)
2:27322545		Q>P	B:275	(-51.95, 37.08, 92.17)
2:27322547		E>K	B:276	(-51.67, 35.27, 86.84)
2:27322550		A>T	B:277	(-47.72, 37.08, 87.53)
2:27322562	rs375971120	G>R	B:281	(-43.74, 32.19, 87.57)
2:27322577		G>S	B:286	(-40.82, 24.86, 88.47)
2:27322584		K>R	B:288	(-36.25, 24.86, 84.92)
2:27322587	rs201037118	C>Y	B:289	(-36.58, 23.06, 88.39)
2:27322598		G>S	B:293	(-32.67, 23.78, 81.28)
2:27322613	rs144351342	V>M	B:298	(-42.50, 24.92, 75.80)