4GA7.A | SERPINB1

General Structure Information

PDB ID	4ga7
HGNC Gene Label(s)	SERPINB1
Structure Name	crystal structure of human serpinb1 mutant
Resolution	2.9Å
Reference	AUTH L.WANG,Q.LI,L.WU,S.LIU,Y.ZHANG,X.YANG,P.ZHU,H.ZHANG,K.ZHANG,AUTH 2 J.LOU,P.LIU,L.TONG,F.SUN,Z.FANTITL IDENTIFICATION OF SERPINB1 AS A PHYSIOLOGICAL INHIBITOR OFTITL 2 HUMAN GRANZYME HREF J.IMMUNOL. V. 190 1319 2013REFN ISSN 0022-1767PMID 23269243DOI 10.4049/JIMMUNOL.1202542

Variant Set Distributions

ExAC Variants

Number Of Residues	369
Number Of SNVs	99
Number Of Permutations	23581
Optimal Distance Threshold	23.0
K Statistic	0.327
p-value	0.042

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:2840790		F>L	A:11	(47.68, 12.49, -5.97)
6:2840787		A>T	A:12	(44.36, 13.14, -8.73)
6:2840772	rs552426410	L>V	A:17	(47.57, 10.99, -16.02)
6:2840763	rs375795650	S>R	A:20	(46.61, 6.36, -18.37)
6:2840753		N>S	A:23	(44.38, 1.87, -19.24)
6:2840750	rs139132332	P>L	A:24	(45.30, 4.20, -22.45)
6:2840751		P>A	A:24	(45.30, 4.20, -22.45)
6:2840748		A>S	A:25	(41.40, 2.91, -23.34)
6:2840739		I>V	A:28	(40.06, 4.45, -14.93)
6:2840714		S>L	A:36	(45.08, 11.21, 0.08)
6:2840706		M>V	A:39	(48.94, 7.60, 2.14)
6:2840700	rs61748572	M>V	A:41	(46.82, 7.34, 8.14)
6:2840684	rs141303024	T>I	A:46	(56.51, 8.45, 8.05)
6:2840682		R>G	A:47	(59.04, 10.01, 11.16)
6:2840678		G>V	A:48	(62.49, 11.32, 6.71)
6:2840679		G>S	A:48	(62.49, 11.32, 6.71)
6:2840669		A>V	A:51	(58.18, 11.37, 4.69)
6:2840657		S>F	A:55	(54.94, 15.16, 1.09)
6:2838904	rs201567851 COSM3623745	T>M	A:62	(51.18, 22.98, 0.09)
6:2838893	rs186497286	V>F	A:66	(47.84, 17.97, 7.24)
6:2838890		H>Y	A:67	(47.30, 15.20, 10.00)
6:2838882	rs376235247	R>S	A:69	(41.25, 20.63, 6.98)
6:2838874	rs143565908	S>N	A:72	(37.84, 18.18, 9.35)
6:2838860		I>V	A:77	(32.51, 13.81, 3.67)
6:2838854		K>E	A:79	(26.89, 14.40, 7.25)
6:2838851	rs565171133	R>C	A:80	(24.90, 10.34, 11.77)
6:2838844	rs34825616	A>V	A:82	(23.00, 10.95, 3.91)
6:2838841		S>F	A:83	(20.77, 10.11, 0.63)
6:2838820	rs114597282	N>S	A:90	(40.98, 2.76, 5.84)
6:2838790		F>C	A:100	(52.90, -1.62, 15.63)
6:2838232		E>G	A:103	(51.78, 7.01, 20.12)
6:2838224		V>I	A:106	(45.72, 6.87, 19.43)
6:2838220	rs199917219 COSM1077123	S>L	A:107	(46.64, 8.99, 16.06)
6:2838208	rs536822312	T>I	A:111	(42.99, 11.77, 12.89)
6:2838205	rs551252424	Y>C	A:112	(43.08, 9.95, 9.62)
6:2838200		A>T	A:114	(41.67, 4.03, 11.71)
6:2838185		V>M	A:119	(47.94, -10.20, 11.48)
6:2838149	rs565337534	T>S	A:131	(40.63, -11.84, 8.35)
6:2838144		I>M	A:132	(41.90, -8.71, 5.46)
6:2838127		G>E	A:138	(31.47, -5.47, 6.04)
6:2838117		E>D	A:141	(26.40, -3.96, 3.37)
6:2838116	rs150484232	G>R	A:142	(29.10, -6.93, 0.49)
6:2836470		L>V	A:147	(40.10, -6.51, -1.65)
6:2836460	rs140716564	S>L	A:150	(45.35, -15.88, -3.69)
6:2836457		G>A	A:151	(48.92, -14.21, -3.19)
6:2836442		M>T	A:156	(58.13, -12.21, 2.83)
6:2836439		T>I	A:157	(53.78, -9.71, 4.27)
6:2836416		I>V	A:165	(35.31, 2.88, -1.60)
6:2836391	rs377395232	D>G	A:173	(16.56, 15.49, -11.04)
6:2836383		M>L	A:176	(11.70, 7.97, -15.66)
6:2836380		K>Q	A:177	(12.92, 2.81, -14.58)
6:2836373		A>V	A:179	(13.29, 6.27, -20.87)
6:2836361	rs144971610	A>V	A:183	(21.80, 1.93, -26.99)
6:2836348	rs151068882	L>F	A:187	(34.15, 1.66, -27.53)
6:2836254		D>N	A:191	(33.47, -0.84, -31.66)
6:2836216		K>N	A:203	(17.32, 23.39, -15.65)
6:2836213		F>L	A:204	(20.71, 19.41, -15.58)
6:2836214		F>S	A:204	(20.71, 19.41, -15.58)
6:2836212	rs368890802	A>P	A:205	(24.69, 22.60, -15.15)
6:2836205		G>V	A:207	(29.17, 23.47, -20.58)
6:2836202	rs199825256	Y>C	A:208	(31.38, 23.95, -25.66)
6:2836196	rs148457623	E>V	A:210	(35.76, 27.16, -27.92)
6:2836197	rs142852975	E>K	A:210	(35.76, 27.16, -27.92)
6:2836181	rs144562805	R>H	A:215	(29.14, 19.18, -24.75)
6:2836182	rs559549133	R>C	A:215	(29.14, 19.18, -24.75)
6:2836144	rs374753274	S>R	A:227	(27.98, 16.54, -7.74)
6:2836145		S>N	A:227	(27.98, 16.54, -7.74)
6:2836127		P>L	A:233	(33.67, 14.61, -26.02)
6:2836125		D>Y	A:234	(31.28, 17.31, -29.47)
6:2836118	rs147148493	I>T	A:236	(35.12, 9.87, -31.45)
6:2836116	rs143394328	E>Q	A:237	(37.56, 13.65, -33.80)
6:2836108		E>D	A:239	(42.49, 6.68, -34.37)
6:2836110		E>K	A:239	(42.49, 6.68, -34.37)
6:2836103		T>M	A:241	(38.74, 7.10, -26.50)
6:2836098	rs200375056	L>V	A:243	(39.20, 11.18, -23.83)
6:2834200	rs141179468	P>L	A:261	(30.64, 28.99, -11.24)
6:2834201		P>S	A:261	(30.64, 28.99, -11.24)
6:2834194	rs148153311	N>T	A:263	(32.38, 28.91, -17.20)
6:2834189	COSM1077107	D>N	A:265	(25.07, 28.33, -18.17)
6:2834182		I>T	A:267	(20.44, 25.20, -19.72)
6:2834177		V>I	A:269	(19.87, 19.24, -20.79)
6:2834171		V>I	A:271	(20.67, 13.77, -20.40)
6:2834168	rs143759561	S>G	A:272	(21.91, 10.63, -22.67)
6:2834151	rs61761877	K>N	A:277	(27.63, -1.71, -12.85)
6:2834123		D>N	A:287	(51.50, 3.50, -9.89)
6:2834116		A>V	A:289	(56.91, 5.03, -7.41)
6:2834117		A>T	A:289	(56.91, 5.03, -7.41)
6:2834114	rs115979952	R>C	A:290	(55.23, 5.96, -12.32)
6:2834105	rs371863079	V>M	A:293	(56.69, 6.94, -3.19)
6:2834086	rs368678764	S>T	A:299	(63.38, -2.91, 3.71)
6:2834087		S>G	A:299	(63.38, -2.91, 3.71)
6:2834084		S>G	A:300	(66.52, -0.50, 3.60)
6:2834075		D>N	A:303	(61.82, 5.95, 8.40)
6:2834065		G>V	A:306	(56.05, 6.40, 14.15)
6:2834054	rs373856926	A>T	A:310	(61.39, -1.99, 13.99)
6:2834048	COSM346838 COSM1077106	D>Y	A:312	(62.58, -5.36, 9.22)
6:2834026		V>A	A:319	(44.96, -2.56, -2.16)
6:2834012		V>M	A:324	(30.17, 2.92, -8.80)
6:2834002		N>S	A:327	(21.00, 3.80, -11.37)
6:2833958		T>A	A:342	(11.11, 24.54, -16.17)
6:2833949	rs201317595	M>V	A:345	(10.02, 29.80, -25.16)
6:2833937	rs201796977 COSM3249933	E>K	A:349	(17.12, 23.21, -25.74)
6:2833933	rs376077067	E>V	A:350	(22.27, 22.16, -25.69)
6:2833931		N>D	A:351	(21.92, 17.77, -26.68)
6:2833925		T>P	A:353	(24.64, 12.28, -25.95)
6:2833894		R>Q	A:363	(32.16, 18.51, -7.20)
6:2833895	COSM3623742	R>W	A:363	(32.16, 18.51, -7.20)
6:2833888		N>S	A:365	(29.72, 20.50, -3.95)
6:2833861		G>A	A:374	(36.80, 8.61, -14.11)
6:2833847		P>S	A:379	(31.04, -1.32, -21.98)