2MJ7.A | AP4B1

General Structure Information

PDB ID	2mj7
HGNC Gene Label(s)	AP4B1
Structure Name	solution nmr structure of beta-adaptin appendage domain of human adaptor protein complex 4 subunit beta, northeast structural genomics consortium (nesg) target hr8998c
Resolution	-1.0Å
Reference	AUTH A.ELETSKY,D.J.ROTSHTEYN,K.PEDERSON,R.SHASTRY,M.MAGLAQUI,AUTH 2 H.JANJUA,R.XIAO,J.K.EVERETT,G.T.MONTELIONE,J.H.PRESTEGARD,AUTH 3 T.SZYPERSKITITL SOLUTION NMR STRUCTURE OF BETA-ADAPTIN APPENDAGE DOMAIN OFTITL 2 HUMAN ADAPTOR PROTEIN COMPLEX 4 SUBUNIT BETA, NORTHEASTTITL 3 STRUCTURAL GENOMICS CONSORTIUM (NESG) TARGET HR8998CREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	130
Number Of SNVs	35
Number Of Permutations	3279
Optimal Distance Threshold	13.0
K Statistic	0.178
p-value	0.076

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:114438075		E>G	A:13	(5.92, 9.64, -20.74)
1:114438069		P>R	A:15	(4.31, 15.67, -16.18)
1:114438070		P>T	A:15	(4.31, 15.67, -16.18)
1:114438064	rs148748734	S>A	A:17	(-3.19, 17.57, -15.79)
1:114438057	COSM4020799	A>D	A:19	(-0.27, 16.77, -10.60)
1:114438048	rs569988158	L>P	A:22	(2.23, 9.55, -4.50)
1:114438049	rs373468800 COSM1747642	L>V	A:22	(2.23, 9.55, -4.50)
1:114438042		P>L	A:24	(8.85, 8.75, -0.07)
1:114438039	rs201876159	N>S	A:25	(7.94, 12.97, 2.90)
1:114438036		R>H	A:26	(9.15, 12.98, 7.27)
1:114438006	rs530459127	T>I	A:36	(-1.37, 6.63, 11.87)
1:114438000		L>P	A:38	(-4.80, 1.01, 15.18)
1:114437977		Q>E	A:46	(-9.27, -3.45, -4.96)
1:114437970		L>W	A:48	(-7.49, -7.43, -7.27)
1:114437968	rs368070166 COSM1332828	P>A	A:49	(-8.26, -12.32, -8.86)
1:114437961	rs184266726	R>Q	A:51	(-2.15, -13.00, -14.85)
1:114437962		R>W	A:51	(-2.15, -13.00, -14.85)
1:114437932		M>V	A:61	(12.90, -4.31, -5.80)
1:114437919		V>A	A:65	(10.62, 2.51, -9.38)
1:114437916		V>G	A:66	(6.11, 3.98, -8.11)
1:114437904		T>I	A:70	(8.20, -1.10, 2.19)
1:114437905		T>S	A:70	(8.20, -1.10, 2.19)
1:114437899	rs528147130 COSM2176801	A>T	A:72	(6.01, -4.07, 6.67)
1:114437892		S>N	A:74	(5.76, -11.21, 4.37)
1:114437887		A>T	A:76	(8.72, -15.55, -0.86)
1:114437880		S>F	A:78	(5.04, -16.49, 3.52)
1:114437877		R>Q	A:79	(0.96, -17.78, 0.67)
1:114437824	rs137886060	T>A	A:97	(-1.46, 0.69, 1.58)
1:114437810		L>F	A:101	(-1.33, -13.30, -1.28)
1:114437807		E>D	A:102	(-5.84, -14.98, 1.03)
1:114437808		E>G	A:102	(-5.84, -14.98, 1.03)
1:114437789		M>I	A:108	(-3.27, -9.58, -3.35)
1:114437757	rs199879996	T>M	A:119	(-12.63, 11.12, -4.67)
1:114437751	rs564093511 COSM1332826	T>K	A:121	(-5.89, 11.84, -3.65)
1:114437745		N>I	A:123	(-9.47, 7.48, -7.55)
1:114437743	rs148223090	S>G	A:124	(-4.84, 8.73, -8.40)
1:114437721		T>N	A:131	(0.48, 0.40, -13.09)
1:114437719	rs543728602	V>M	A:132	(3.26, -1.37, -9.31)
1:114437707	rs79050956	I>V	A:136	(5.07, -7.26, -10.93)
1:114437696	rs372937961	I>M	A:139	(6.11, -10.07, -17.43)