4CFE.E | PRKAG1

General Structure Information

PDB ID	4cfe
HGNC Gene Label(s)	PRKAG1
Structure Name	structure of full length human ampk in complex with a small molecule activator, a benzimidazole derivative (991)
Resolution	3.02Å
Reference	AUTH B.XIAO,M.J.SANDERS,D.CARMENA,N.J.BRIGHT,L.F.HAIRE,AUTH 2 E.UNDERWOOD,B.R.PATEL,R.B.HEATH,P.A.WALKER,S.HALLEN,AUTH 3 F.GIORDANETTO,S.R.MARTIN,D.CARLING,S.J.GAMBLINTITL STRUCTURAL BASIS OF AMPK REGULATION BY SMALL MOLECULETITL 2 ACTIVATORS.REF NAT.COMMUN. V. 4 3017 2013REFN ISSN 2041-1723PMID 24352254DOI 10.1038/NCOMMS4017

Variant Set Distributions

ExAC Variants

Number Of Residues	294
Number Of SNVs	49
Number Of Permutations	21858
Optimal Distance Threshold	8.0
K Statistic	0.038
p-value	0.572

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
12:49399612	rs201786139	V>M	E:28	(523.57, -1.37, 990.97)
12:49399606	rs200836335	T>A	E:30	(526.70, 1.62, 995.25)
12:49399588		H>Y	E:36	(517.54, 6.77, 997.21)
12:49399585		R>C	E:37	(517.85, 12.60, 999.68)
12:49399567		P>A	E:43	(509.40, 6.75, 1009.64)
12:49399537		T>A	E:53	(522.79, 16.20, 1030.26)
12:49399318	rs201427080	K>N	E:59	(515.71, 8.60, 1036.59)
12:49399310		F>S	E:62	(514.62, 2.58, 1034.98)
12:49399302		V>M	E:65	(512.24, 0.20, 1029.54)
12:49399269	rs200648862	D>N	E:76	(523.83, 20.48, 1026.88)
12:49399248		V>L	E:83	(526.28, 16.04, 1023.10)
12:49399132	rs1126930	T>S	E:89	(526.80, 0.30, 1025.46)
12:49399102	rs576758349 COSM3954818	Y>C	E:99	(529.11, -5.83, 1040.57)
12:49398774		P>L	E:128	(532.77, 13.70, 1019.04)
12:49398757		P>S	E:134	(518.05, 14.57, 1006.16)
12:49398388	rs143639650	R>W	E:147	(533.72, 7.03, 1008.87)
12:49398364		V>I	E:155	(518.70, 12.07, 1011.46)
12:49398355		P>T	E:158	(520.24, 21.16, 1009.18)
12:49398352		E>K	E:159	(517.28, 24.24, 1007.98)
12:49397701	rs200994950	T>S	E:181	(512.70, -6.46, 992.67)
12:49397677	rs146580527	M>T	E:189	(523.13, -11.89, 995.58)
12:49397678	rs544304879	M>V	E:189	(523.13, -11.89, 995.58)
12:49397653		Q>R	E:197	(535.72, -14.90, 1002.56)
12:49397644		T>N	E:200	(534.63, -12.68, 1011.69)
12:49397618		T>A	E:209	(525.85, -22.22, 1029.88)
12:49397605		V>A	E:213	(526.28, -11.31, 1033.55)
12:49397606	rs200680991	V>I	E:213	(526.28, -11.31, 1033.55)
12:49397602	rs199843731	Y>C	E:214	(531.36, -8.45, 1035.90)
12:49397591		G>R	E:218	(533.61, -7.61, 1029.54)
12:49397587		I>T	E:219	(533.44, -10.05, 1026.58)
12:49397582		V>I	E:221	(534.09, -3.53, 1027.30)
12:49397375		R>H	E:236	(526.15, -28.50, 1021.02)
12:49397376	rs368981295	R>C	E:236	(526.15, -28.50, 1021.02)
12:49397360	COSM4042316	Y>C	E:241	(523.74, -11.94, 1026.57)
12:49397354		K>R	E:243	(525.05, -5.12, 1023.80)
12:49397348		D>V	E:245	(519.42, -9.39, 1026.06)
12:49397064		A>T	E:251	(513.39, -4.16, 1033.70)
12:49397060		E>A	E:252	(513.53, -8.06, 1035.48)
12:49397034		S>T	E:261	(524.04, -17.33, 1034.80)
12:49397031		V>M	E:262	(524.11, -16.14, 1030.68)
12:49397024		K>T	E:264	(519.03, -17.68, 1035.52)
12:49397009		R>Q	E:269	(514.68, -15.12, 1025.51)
12:49396979		C>Y	E:279	(524.29, -19.85, 1008.53)
12:49396977		Y>H	E:280	(524.55, -23.90, 1007.01)
12:49396971		H>D	E:282	(526.32, -24.11, 1001.86)
12:49396941		L>V	E:292	(519.28, -11.09, 1008.52)
12:49396937		V>A	E:293	(515.39, -8.92, 1006.66)
12:49396931		A>V	E:295	(514.45, -11.82, 1011.85)
12:49396786		H>Y	E:298	(523.18, -6.72, 1013.66)
12:49396774	rs567983719	V>M	E:302	(528.62, -19.22, 1010.79)
12:49396766		D>E	E:304	(530.26, -26.78, 1009.85)
12:49396729		D>Y	E:317	(530.11, -7.63, 1007.96)