1Z8D.A | PYGM – ASTRID

1Z8D.A | PYGM

General Structure Information

PDB ID	1z8d
HGNC Gene Label(s)	PYGM
Structure Name	crystal structure of human muscle glycogen phosphorylase a with amp and glucose
Resolution	2.3Å
Reference	AUTH C.M.LUKACS,N.G.OIKONOMAKOS,R.L.CROWTHER,L.N.HONG,AUTH 2 R.U.KAMMLOTT,W.LEVIN,S.LI,C.M.LIU,D.LUCAS-MCGADY,AUTH 3 S.PIETRANICO,L.REIKTITL THE CRYSTAL STRUCTURE OF HUMAN MUSCLE GLYCOGEN PHOSPHORYLASETITL 2 A WITH BOUND GLUCOSE AND AMP: AN INTERMEDIATE CONFORMATIONTITL 3 WITH T-STATE AND R-STATE FEATURES.REF PROTEINS V. 63 1123 2006REFN ISSN 0887-3585PMID 16523484DOI 10.1002/PROT.20939

Variant Set Distributions

ExAC Variants

Number Of Residues	819
Number Of SNVs	250
Number Of Permutations	62224
Optimal Distance Threshold	22.0
K Statistic	0.165
p-value	0.009

ClinVar

Number Of Residues	819
Number Of SNVs	11
Number Of Permutations	3683
Optimal Distance Threshold	16.0
K Statistic	0.2
p-value	0.097

COSMIC

Number Of Residues	819
Number Of SNVs	14
Number Of Permutations	5047
Optimal Distance Threshold	12.0
K Statistic	0.022
p-value	0.7

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	250
Number Of ClinVar SNVs	11
Optimal Distance Threshold	16.0
K Statistic	0.124
p-value	0.045

Cosmic vs. ExAC

Number Of ExAC SNVs	250
Number Of COSMIC SNVs	14
Optimal Distance Threshold	33.0
K Statistic	0.119
p-value	0.296

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:64527363	rs374812974	R>Q	A:2	(28.89, -23.26, 58.49)
11:64527364	rs199565370	R>W	A:2	(28.89, -23.26, 58.49)
11:64527360		P>L	A:3	(31.75, -25.30, 56.64)
11:64527355		S>T	A:5	(30.05, -21.75, 50.70)
11:64527336		K>R	A:11	(29.13, -12.62, 50.59)
11:64527324	rs375188510	V>A	A:15	(32.97, -2.14, 48.47)
11:64527321	rs148159796	R>H	A:16	(34.77, -0.38, 52.02)
11:64527298	rs146845353	V>M	A:24	(45.89, 14.40, 54.01)
11:64527294		T>S	A:25	(47.13, 10.88, 55.84)
11:64527282		K>R	A:29	(49.33, 6.44, 52.79)
11:64527270		R>Q	A:33	(49.26, 2.50, 46.33)
11:64527271	rs531748591	R>W	A:33	(49.26, 2.50, 46.33)
11:64527256		T>A	A:38	(50.44, 1.90, 39.40)
11:64527250	COSM4035220	V>I	A:40	(56.62, 1.14, 37.74)
11:64527240	rs567482511	R>H	A:43	(62.69, 9.70, 45.45)
11:64527241		R>C	A:43	(62.69, 9.70, 45.45)
11:64527237		N>S	A:44	(65.11, 8.45, 41.72)
11:64527225	rs368649966	P>Q	A:48	(55.95, 16.11, 36.38)
11:64527222		R>Q	A:49	(53.23, 13.51, 32.24)
11:64527210	rs375646075	F>Y	A:53	(49.38, 9.87, 35.33)
11:64527211	rs148839812	F>V	A:53	(49.38, 9.87, 35.33)
11:64527195		T>I	A:58	(44.54, 8.82, 44.29)
11:64527193	COSM930191	V>M	A:59	(41.04, 10.84, 42.76)
11:64527174		G>V	A:65	(33.38, 3.69, 44.63)
11:64527162		R>L	A:69	(28.21, 0.83, 46.67)
11:64527163		R>C	A:69	(28.21, 0.83, 46.67)
11:64527159	rs377713922	T>M	A:70	(25.84, 4.55, 41.86)
11:64527153		Q>R	A:72	(25.70, -1.63, 43.51)
11:64527129		K>R	A:80	(13.29, 5.71, 33.08)
11:64526173		I>F	A:82	(18.38, 8.49, 30.95)
11:64526169		Y>C	A:83	(20.43, 4.87, 28.03)
11:64526167	rs373310140	Y>H	A:84	(22.61, 12.39, 25.40)
11:64526140	rs370247862 CM030271	R>W	A:93	(42.01, 19.67, 31.78)
11:64526136	rs375233791	T>M	A:94	(38.81, 14.84, 34.79)
11:64526120		M>I	A:99	(39.32, 17.12, 43.02)
11:64526121	rs528545908	M>T	A:99	(39.32, 17.12, 43.02)
11:64526089		E>K	A:110	(47.86, 20.04, 52.34)
11:64526082	rs147571836	T>I	A:112	(50.43, 17.64, 47.08)
11:64525986		L>P	A:115	(54.67, 15.08, 48.97)
11:64525974	rs374898083	M>T	A:119	(47.32, 20.39, 42.64)
11:64525944	rs200430286	A>V	A:129	(38.64, 14.99, 26.00)
11:64525930		G>R	A:134	(31.57, 21.83, 20.01)
11:64525926		G>V	A:135	(28.59, 22.56, 21.23)
11:64525917		R>Q	A:138	(30.89, 20.76, 26.88)
11:64525918	rs367990192 CM033934	R>G	A:138	(30.89, 20.76, 26.88)
11:64525909		A>T	A:141	(29.30, 17.29, 28.84)
11:64525806		S>F	A:146	(23.65, 17.95, 35.17)
11:64525792	rs145285313	G>S	A:151	(20.15, 11.83, 40.13)
11:64525783		A>T	A:154	(22.46, 8.55, 33.34)
11:64525771		G>R	A:158	(29.83, 6.61, 22.14)
11:64525765	rs200038732 CM076452	R>C	A:160	(38.26, 5.11, 22.71)
11:64525745		F>L	A:166	(42.19, 19.81, 14.31)
11:64525744		N>H	A:167	(45.80, 19.62, 18.05)
11:64525719		Q>P	A:175	(44.32, 25.67, 10.17)
11:64525375		E>V	A:178	(49.04, 18.18, 14.76)
11:64525376		E>K	A:178	(49.04, 18.18, 14.76)
11:64525357		R>H	A:184	(51.17, 10.83, 23.33)
11:64525358		R>C	A:184	(51.17, 10.83, 23.33)
11:64525354		Y>C	A:185	(51.73, 10.52, 27.46)
11:64525346		P>S	A:188	(43.49, 7.52, 33.71)
11:64525335	rs149597150	K>N	A:191	(38.35, 0.03, 32.53)
11:64525334	rs77656150	A>S	A:192	(38.42, -1.53, 29.51)
11:64525330	rs115259855	R>Q	A:193	(34.82, -2.87, 30.88)
11:64525331	rs376581557 CM993581	R>W	A:193	(34.82, -2.87, 30.88)
11:64525322		F>L	A:196	(31.23, -6.69, 28.73)
11:64525318		T>M	A:197	(32.75, -7.39, 22.99)
11:64525319		T>P	A:197	(32.75, -7.39, 22.99)
11:64525307		H>Y	A:201	(26.16, -7.15, 11.84)
11:64525297	rs375724338 COSM194067 HM080064	G>D	A:204	(24.82, -7.70, 2.75)
11:64525298	rs119103251	G>S	A:204	(24.82, -7.70, 2.75)
11:64525293	rs371343340	H>Q	A:205	(21.56, -10.49, 1.63)
11:64525282		T>S	A:209	(12.00, -16.03, 5.97)
11:64525270	rs532529860	A>V	A:213	(14.05, -11.21, 8.47)
11:64525253		Q>K	A:219	(31.50, -6.52, 7.47)
11:64523027		V>I	A:221	(32.95, -4.80, 13.34)
11:64523024		L>V	A:222	(33.68, -6.48, 17.32)
11:64523017	rs370712943	M>T	A:224	(35.84, -2.60, 23.45)
11:64523005	COSM930187	T>M	A:228	(34.32, 7.17, 32.01)
11:64523000		V>M	A:230	(30.21, 10.95, 35.49)
11:64522996		P>L	A:231	(31.09, 13.18, 38.73)
11:64522988	rs373533637	R>C	A:234	(30.14, 18.21, 46.80)
11:64522981		N>S	A:236	(28.09, 10.49, 46.63)
11:64522982		N>D	A:236	(28.09, 10.49, 46.63)
11:64522966		M>T	A:241	(31.33, 8.08, 29.42)
11:64522964	rs141055359	R>C	A:242	(29.68, 2.01, 27.93)
11:64522961		L>F	A:243	(32.91, 5.73, 24.82)
11:64522956	COSM1298386	W>C	A:244	(30.64, 1.13, 22.36)
11:64522946		A>S	A:248	(38.70, -7.41, 14.96)
11:64522791		R>Q	A:269	(42.99, -8.22, 12.85)
11:64522782		A>V	A:272	(38.51, -2.81, 11.14)
11:64522767		R>H	A:277	(41.63, 4.67, 14.30)
11:64522768	COSM4035213	R>C	A:277	(41.63, 4.67, 14.30)
11:64522752	rs114468011	N>S	A:282	(32.58, 18.31, 10.14)
11:64522753		N>D	A:282	(32.58, 18.31, 10.14)
11:64522745		N>K	A:284	(27.09, 23.24, 11.92)
11:64522306	rs577937797	F>L	A:285	(29.19, 20.44, 6.46)
11:64522308		F>I	A:285	(29.19, 20.44, 6.46)
11:64522302	rs371208037	E>K	A:287	(31.33, 14.95, 5.10)
11:64522289		L>P	A:291	(33.86, 6.10, 7.82)
11:64522286		R>Q	A:292	(29.90, 10.34, 10.58)
11:64522287	rs558267822	R>W	A:292	(29.90, 10.34, 10.58)
11:64522266	COSM4035212	V>M	A:299	(27.15, 4.02, 18.15)
11:64522235		R>H	A:309	(23.02, -5.96, 28.80)
11:64522236		R>C	A:309	(23.02, -5.96, 28.80)
11:64522232	rs147851780	R>H	A:310	(21.92, -2.31, 31.25)
11:64522233		R>C	A:310	(21.92, -2.31, 31.25)
11:64522215		F>V	A:316	(21.17, -6.66, 43.47)
11:64522212	rs368077182	G>S	A:317	(22.84, -10.25, 41.75)
11:64522205	rs139578482	R>H	A:319	(25.31, -11.84, 35.36)
11:64522200	rs150569465	P>A	A:321	(17.93, -12.97, 31.35)
11:64522197		V>L	A:322	(14.64, -11.92, 34.44)
11:64522193	rs139645637	R>H	A:323	(13.08, -6.76, 32.64)
11:64522194	rs141889634	R>S	A:323	(13.08, -6.76, 32.64)
11:64522190	rs536561941	T>M	A:324	(11.57, -11.33, 28.73)
11:64522182		D>H	A:327	(5.10, -4.42, 28.23)
11:64521816		V>A	A:333	(14.41, 3.07, 28.43)
11:64521786		S>C	A:343	(19.03, 8.37, 13.55)
11:64521762		R>K	A:351	(17.37, -5.09, 13.43)
11:64521745		E>K	A:357	(12.95, -10.08, 20.59)
11:64521742	COSM1509543	R>W	A:358	(9.96, -12.43, 15.89)
11:64521736		D>N	A:360	(3.99, -6.61, 16.54)
11:64521496	rs116135678	A>V	A:364	(7.49, -1.96, 18.16)
11:64521484		T>I	A:368	(10.36, 2.93, 19.15)
11:64521472	rs537956139	C>Y	A:372	(12.85, 7.86, 21.06)
11:64521469		A>D	A:373	(14.01, 11.74, 21.56)
11:64521443		E>K	A:382	(24.85, 23.45, 5.23)
11:64521430	rs200357590	R>H	A:386	(20.34, 15.41, 2.40)
11:64521428		W>R	A:387	(23.56, 9.68, 5.04)
11:64521424	rs149649134	P>L	A:388	(22.58, 8.73, -0.06)
11:64521417		H>Q	A:390	(23.62, 5.10, -3.16)
11:64521415		L>P	A:391	(25.42, 4.58, 0.98)
11:64521406	rs71581787	T>M	A:394	(25.34, -1.16, 0.12)
11:64521397	COSM3356228	P>L	A:397	(20.19, -3.54, 3.71)
11:64521394	rs548646628	R>Q	A:398	(15.98, -4.91, 7.33)
11:64521389		L>F	A:400	(16.54, 1.10, 3.35)
11:64521372		E>D	A:405	(7.24, -0.09, 6.41)
11:64521374		E>K	A:405	(7.24, -0.09, 6.41)
11:64521370		I>T	A:406	(8.92, 3.99, 8.96)
11:64521362		R>C	A:409	(3.25, 1.86, 8.42)
11:64521353	rs142054672	N>Y	A:412	(-0.42, 6.23, 5.00)
11:64521153		R>Q	A:413	(0.17, 9.12, 10.41)
11:64521147	COSM1509544	A>V	A:415	(-3.09, 11.28, 4.06)
11:64521142		A>T	A:417	(-4.78, 14.37, 7.92)
11:64521132		G>E	A:420	(-5.25, 15.86, -1.10)
11:64521127	rs201389731	V>I	A:422	(-0.21, 16.12, -3.46)
11:64521122	rs372851103	D>E	A:423	(3.34, 19.19, -2.13)
11:64521121	rs577821154	R>W	A:424	(1.48, 18.28, 3.74)
11:64521114	COSM4035211	R>Q	A:426	(7.31, 17.13, -2.06)
11:64521111		R>H	A:427	(5.91, 19.33, 1.89)
11:64521091		G>R	A:434	(16.48, 14.55, -6.96)
11:64521088	rs199728804	A>T	A:435	(19.78, 14.66, -7.92)
11:64521078		R>H	A:438	(19.78, 12.40, -0.67)
11:64521079		R>C	A:438	(19.78, 12.40, -0.67)
11:64521069		M>T	A:441	(17.97, 11.13, 8.86)
11:64521067	COSM1355762	A>T	A:442	(14.96, 14.60, 10.45)
11:64521055	rs568496266	I>L	A:446	(10.09, 13.93, 13.48)
11:64521048		G>E	A:448	(10.25, 8.19, 16.01)
11:64521049		G>R	A:448	(10.25, 8.19, 16.01)
11:64521045		S>L	A:449	(10.17, 10.68, 18.13)
11:64521028	rs398124208 CM034445	V>M	A:455	(18.49, 24.44, 21.64)
11:64521021		R>H	A:457	(12.28, 31.55, 23.67)
11:64521022		R>C	A:457	(12.28, 31.55, 23.67)
11:64521019	rs377371768	I>V	A:458	(14.39, 32.00, 18.40)
11:64521010		E>K	A:461	(9.02, 29.00, 17.83)
11:64521004		L>F	A:463	(12.07, 24.34, 14.03)
11:64520992		I>V	A:467	(12.44, 23.09, 8.73)
11:64520654		K>R	A:469	(4.90, 24.45, 9.20)
11:64520647	rs142207594	F>L	A:471	(6.76, 17.14, 10.10)
11:64520633		P>L	A:476	(1.34, 19.29, 17.61)
11:64520630		H>R	A:477	(2.05, 15.99, 20.17)
11:64520627		K>R	A:478	(5.99, 15.06, 18.60)
11:64520620	COSM930186	Q>H	A:480	(9.23, 20.00, 23.60)
11:64520598		P>S	A:488	(27.83, 25.55, 37.15)
11:64520595	COSM116839 CM071071	R>W	A:489	(29.10, 22.50, 38.56)
11:64520592	COSM4035209 CM063085	R>C	A:490	(34.26, 22.36, 33.71)
11:64520586		L>M	A:492	(31.95, 29.54, 38.03)
11:64520571	rs200101718	P>S	A:497	(38.10, 30.51, 41.25)
11:64520556	rs149932883	V>I	A:502	(33.52, 37.08, 45.48)
11:64520549	rs544460202	A>V	A:504	(30.25, 32.97, 48.37)
11:64519970		G>W	A:508	(27.07, 31.16, 49.33)
11:64519962		D>E	A:510	(23.49, 26.90, 47.96)
11:64519958	rs139570786	I>V	A:512	(27.48, 25.58, 43.10)
11:64519948		L>P	A:515	(22.83, 29.28, 38.98)
11:64519936	rs572480976	R>H	A:519	(17.80, 36.73, 40.43)
11:64519937	rs200481790	R>C	A:519	(17.80, 36.73, 40.43)
11:64519922		F>I	A:524	(25.16, 42.74, 47.11)
11:64519915		D>G	A:526	(24.48, 49.77, 44.73)
11:64519909		E>G	A:528	(31.11, 50.64, 46.70)
11:64519898		R>W	A:532	(36.61, 46.42, 45.65)
11:64519891		V>A	A:534	(33.73, 42.04, 40.55)
11:64519886		K>E	A:536	(40.42, 42.43, 42.50)
11:64519494		H>R	A:556	(52.31, 42.39, 24.35)
11:64519488		N>S	A:558	(47.43, 46.85, 28.24)
11:64519477		L>F	A:562	(38.43, 45.98, 26.13)
11:64519455	rs143550601	R>Q	A:569	(34.49, 25.35, 15.01)
11:64519456	rs377225525 COSM1322266 CM076447	R>W	A:569	(34.49, 25.35, 15.01)
11:64519437	COSM257840	R>Q	A:575	(28.30, 37.70, 11.28)
11:64519432		L>F	A:577	(34.47, 38.16, 8.36)
11:64519420		L>F	A:581	(34.99, 44.52, 8.79)
11:64519414	rs372302160	V>I	A:583	(39.40, 45.40, 13.70)
11:64519407		T>N	A:585	(37.14, 50.37, 11.03)
11:64519404		L>P	A:586	(39.24, 50.83, 15.36)
11:64519398	rs140016055	N>S	A:588	(41.61, 52.82, 9.52)
11:64519399		N>D	A:588	(41.61, 52.82, 9.52)
11:64519396	rs368545367 COSM1222835 COSM544462	R>C	A:589	(37.56, 55.05, 13.28)
11:64519108		N>K	A:595	(45.76, 63.92, 18.44)
11:64519109	rs150622626	N>S	A:595	(45.76, 63.92, 18.44)
11:64519103		F>C	A:597	(41.08, 58.35, 24.41)
11:64519100		F>S	A:598	(40.97, 56.12, 20.11)
11:64519091	rs373190458 COSM689678 CM022981	R>Q	A:601	(39.04, 47.15, 21.98)
11:64519092		R>W	A:601	(39.04, 47.15, 21.98)
11:64519085		V>A	A:603	(40.74, 41.88, 19.37)
11:64519086		V>L	A:603	(40.74, 41.88, 19.37)
11:64518934		A>V	A:610	(37.23, 22.52, 8.80)
11:64518931		P>L	A:611	(39.75, 20.66, 7.25)
11:64518920		M>V	A:615	(35.95, 31.08, 3.46)
11:64518907	rs142008108	I>T	A:619	(38.38, 33.81, 8.13)
11:64518896	rs143217651	V>I	A:623	(43.04, 37.20, 12.11)
11:64518886		I>N	A:626	(44.67, 42.02, 10.56)
11:64518884	rs201591132	G>R	A:627	(48.15, 41.70, 13.03)
11:64518881	rs137986928	D>Y	A:628	(51.13, 40.69, 11.10)
11:64518878	rs115347245	V>M	A:629	(49.58, 45.36, 10.14)
11:64518871		N>S	A:631	(50.16, 44.01, 16.33)
11:64518864		D>E	A:633	(51.28, 50.78, 13.52)
11:64518862	rs368385152 COSM429557	P>L	A:634	(53.84, 52.88, 15.35)
11:64518853		G>V	A:637	(50.16, 51.10, 19.62)
11:64518847	rs141267088	R>H	A:639	(45.84, 53.53, 20.61)
11:64518848		R>C	A:639	(45.84, 53.53, 20.61)
11:64518845		L>V	A:640	(44.51, 47.89, 18.50)
11:64518841	rs150098198	R>H	A:641	(48.02, 44.89, 19.93)
11:64518842	rs116180923	R>C	A:641	(48.02, 44.89, 19.93)
11:64518809	rs61736659	L>V	A:652	(41.89, 27.90, 25.98)
11:64518803	rs119103253	E>K	A:654	(38.41, 26.24, 31.44)
11:64518034		S>F	A:663	(30.96, 38.62, 24.28)
11:64518014		G>C	A:670	(18.70, 32.58, 12.84)
11:64517993		G>S	A:677	(29.40, 30.75, 25.25)
11:64517976		M>I	A:682	(26.52, 35.82, 31.21)
11:64517974		L>P	A:683	(28.66, 32.78, 34.57)
11:64517971		N>S	A:684	(32.68, 34.23, 33.87)
11:64517969	rs144081869	G>R	A:685	(31.90, 39.05, 33.47)
11:64517947	rs200688234	M>T	A:692	(17.98, 39.39, 19.12)
11:64517942		G>R	A:694	(19.16, 32.53, 20.10)
11:64517929		E>A	A:698	(16.42, 33.47, 26.31)
11:64517893		I>T	A:710	(21.43, 44.17, 21.22)
11:64517887		G>A	A:712	(20.81, 44.38, 14.29)
11:64517881		R>Q	A:714	(16.26, 42.14, 15.31)
11:64517872		D>V	A:717	(14.65, 42.41, 9.40)
11:64514826	rs200058475	N>D	A:727	(22.68, 43.95, -3.28)
11:64514822		A>V	A:728	(25.93, 44.12, -0.87)
11:64514811		Y>H	A:732	(31.04, 48.99, -1.31)
11:64514804	COSM1355760	R>H	A:734	(25.16, 54.65, -0.62)
11:64514805	rs559363120	R>C	A:734	(25.16, 54.65, -0.62)
11:64514780		I>T	A:742	(36.58, 45.97, 1.28)
11:64514762		G>D	A:748	(46.98, 44.13, -0.16)
11:64514741		P>H	A:755	(48.28, 41.07, -3.53)
11:64514739		D>Y	A:756	(45.34, 38.60, -5.14)
11:64514729	rs201161067 COSM930179	K>M	A:759	(39.78, 37.22, -5.13)
11:64514730		K>Q	A:759	(39.78, 37.22, -5.13)
11:64514727	rs149985911	D>Y	A:760	(38.11, 34.11, -2.30)
11:64514722	rs75685607	I>M	A:761	(37.08, 36.96, 1.76)
11:64514717		N>S	A:763	(34.53, 38.07, -4.52)
11:64514718	rs190548494	N>D	A:763	(34.53, 38.07, -4.52)
11:64514714		M>R	A:764	(31.66, 36.25, 0.11)
11:64514708	rs529442663	M>T	A:766	(30.86, 42.37, -2.67)
11:64514703		H>N	A:768	(29.04, 34.68, -2.62)
11:64514696	rs150911354	R>Q	A:770	(24.54, 31.74, 2.94)
11:64514451	rs200164932	V>D	A:773	(28.33, 41.11, 6.86)
11:64514446		A>T	A:775	(23.61, 44.63, 6.84)
11:64514427		I>T	A:781	(30.67, 50.05, 13.97)
11:64514404		A>T	A:789	(31.77, 54.35, 26.38)
11:64514397		Y>C	A:791	(36.09, 49.65, 29.61)
11:64514394		K>R	A:792	(35.32, 55.88, 28.69)
11:64514271	rs577589879	E>Q	A:796	(28.21, 52.21, 35.80)
11:64514262		R>W	A:799	(26.22, 49.19, 38.63)
11:64514257		M>I	A:800	(26.13, 46.18, 32.99)
11:64514258		M>T	A:800	(26.13, 46.18, 32.99)
11:64514249	rs372295369 COSM3398021	R>Q	A:803	(22.38, 45.04, 36.95)
11:64514250		R>W	A:803	(22.38, 45.04, 36.95)
11:64514241		A>T	A:806	(22.54, 37.87, 38.60)
11:64514213	rs139230055	R>H	A:815	(17.21, 25.06, 32.82)
11:64514214	rs143177272	R>C	A:815	(17.21, 25.06, 32.82)
11:64514198		Y>C	A:820	(15.83, 17.66, 28.07)
11:64514195		A>V	A:821	(13.31, 14.97, 32.91)
11:64514193	rs200464333	R>W	A:822	(10.67, 17.71, 35.79)
11:64514182		W>C	A:825	(14.60, 12.37, 29.75)
11:64514178		V>M	A:827	(12.48, 11.40, 35.21)
11:64514165		R>H	A:831	(20.87, 17.41, 44.81)
11:64514166		R>C	A:831	(20.87, 17.41, 44.81)
11:64514159	rs548125114	R>H	A:833	(23.62, 13.78, 49.74)
11:64514160	rs200118962	R>C	A:833	(23.62, 13.78, 49.74)

1Z8D.A | PYGM.

1Z8D.A | PYGM

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:64527219	rs397514631	D>G	A:50	(54.98, 10.41, 36.58)
11:64525298	rs119103251	G>S	A:204	(24.82, -7.70, 2.75)
11:64521496	rs116135678	A>V	A:364	(7.49, -1.96, 18.16)
11:64521403	rs119103254	L>P	A:395	(26.26, -0.18, 4.81)
11:64521028	rs398124208	V>M	A:455	(18.49, 24.44, 21.64)
11:64520597	rs398124209	P>R	A:488	(27.83, 25.55, 37.15)
11:64519536	rs119103252	K>T	A:542	(42.50, 40.99, 32.25)
11:64518803	rs119103253	E>K	A:654	(38.41, 26.24, 31.44)
11:64518029	rs119103256	Q>E	A:665	(28.08, 36.17, 20.81)
11:64517969	rs144081869	G>R	A:685	(31.90, 39.05, 33.47)
11:64514268	rs119103258	W>R	A:797	(31.89, 47.36, 31.58)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:64527198	COSM1746445	H>R	A:57	(45.62, 6.27, 39.23)
11:64527129	COSM2164221	K>R	A:80	(13.29, 5.71, 33.08)
11:64521467	COSM1676153	Y>H	A:374	(15.46, 15.28, 16.88)
11:64521154	COSM3752611	R>G	A:413	(0.17, 9.12, 10.41)
11:64521136	COSM3451537	P>S	A:419	(-7.20, 14.92, 2.79)
11:64521112	COSM1509545	R>C	A:427	(5.91, 19.33, 1.89)
11:64521017	COSM3666512	I>M	A:458	(14.39, 32.00, 18.40)
11:64519936	COSM2164180	R>H	A:519	(17.80, 36.73, 40.43)
11:64519471	COSM176038	D>N	A:564	(37.16, 41.93, 21.96)
11:64519106	COSM930183	K>T	A:596	(40.31, 60.89, 19.00)
11:64519091	COSM689678	R>Q	A:601	(39.04, 47.15, 21.98)
11:64518938	COSM3676258	A>P	A:609	(38.53, 24.95, 10.82)
11:64518818	COSM355763	R>G	A:649	(41.97, 24.04, 23.93)
11:64518013	COSM322939	G>D	A:670	(18.70, 32.58, 12.84)
11:64514214	COSM72364	R>G	A:815	(17.21, 25.06, 32.82)