3FFN.B | GSN – ASTRID

3FFN.B | GSN

General Structure Information

PDB ID	3ffn
HGNC Gene Label(s)	GSN
Structure Name	crystal structure of calcium-free human gelsolin
Resolution	3.0Å
Reference	AUTH S.NAG,Q.MA,H.WANG,S.CHUMNARNSILPA,W.L.LEE,AUTH 2 M.LARSSON,B.KANNAN,M.HERNANDEZ-VALLADARES,AUTH 3 L.D.BURTNICK,R.C.ROBINSONTITL CA2+ BINDING BY DOMAIN 2 PLAYS A CRITICAL ROLE INTITL 2 THE ACTIVATION AND STABILIZATION OF GELSOLIN.REF PROC.NATL.ACAD.SCI.USA V. 106 13713 2009REFN ISSN 0027-8424PMID 19666512DOI 10.1073/PNAS.0812374106

Variant Set Distributions

ExAC Variants

Number Of Residues	723
Number Of SNVs	196
Number Of Permutations	82839
Optimal Distance Threshold	27.0
K Statistic	0.271
p-value	0.139

COSMIC

Number Of Residues	723
Number Of SNVs	7
Number Of Permutations	961
Optimal Distance Threshold	6.0
K Statistic	0.048
p-value	0.281

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	196
Number Of COSMIC SNVs	8
Optimal Distance Threshold	12.0
K Statistic	0.102
p-value	0.15

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:124064256	rs138068754	V>L	B:27	(49.37, 46.52, 42.34)
9:124064262		H>N	B:29	(46.52, 51.48, 37.12)
9:124064264		H>Q	B:29	(46.52, 51.48, 37.12)
9:124064266		P>H	B:30	(50.29, 51.16, 35.77)
9:124064268	rs143781307	E>K	B:31	(49.51, 55.04, 34.42)
9:124064278	rs115224458	K>R	B:34	(53.52, 56.96, 35.01)
9:124064305		I>S	B:43	(45.96, 63.99, 29.65)
9:124064310	rs373791435	R>C	B:45	(40.72, 57.99, 25.92)
9:124064311		R>H	B:45	(40.72, 57.99, 25.92)
9:124064323		F>S	B:49	(36.96, 51.14, 34.87)
9:124064328	COSM3721993 COSM3721991 COSM3721992	L>M	B:51	(43.62, 55.45, 33.06)
9:124064338		V>E	B:54	(46.88, 61.34, 25.65)
9:124064347		N>S	B:57	(51.30, 65.66, 20.37)
9:124064349		L>I	B:58	(47.46, 65.14, 20.72)
9:124064359	rs144219139	D>A	B:61	(42.82, 66.88, 21.01)
9:124064368		T>M	B:64	(32.53, 64.38, 22.35)
9:124064373		D>N	B:66	(35.18, 59.69, 25.40)
9:124064376	rs148748121	A>S	B:67	(36.17, 60.69, 29.43)
9:124064382	rs142305374	V>I	B:69	(41.74, 62.16, 33.90)
9:124064392		K>R	B:72	(48.78, 70.66, 36.82)
9:124064406		R>G	B:77	(57.57, 79.96, 47.33)
9:124064412	rs556563870	G>R	B:79	(59.00, 71.71, 47.23)
9:124064424	COSM3903703 COSM3903701 COSM3903702	Y>H	B:83	(49.15, 66.88, 43.25)
9:124064433		H>Y	B:86	(40.97, 68.78, 36.47)
9:124065196		E>D	B:92	(27.87, 62.87, 23.09)
9:124065215	rs369305328	G>R	B:99	(32.10, 57.26, 36.37)
9:124065219	rs79630438	A>V	B:100	(35.05, 56.13, 35.66)
9:124065224	rs2230287	A>T	B:102	(34.91, 59.89, 38.96)
9:124065227		I>L	B:103	(35.78, 56.07, 40.12)
9:124065233	rs145441439	T>A	B:105	(39.20, 61.47, 40.37)
9:124065236		V>M	B:106	(38.21, 59.58, 44.26)
9:124065246		D>V	B:109	(42.85, 62.15, 46.02)
9:124065258		N>S	B:113	(48.01, 61.31, 50.59)
9:124065260		G>S	B:114	(44.09, 63.85, 49.88)
9:124065261		G>V	B:114	(44.09, 63.85, 49.88)
9:124065263	rs146956976	R>W	B:115	(48.35, 66.86, 48.86)
9:124065279	rs201920706	R>H	B:120	(31.75, 67.89, 36.96)
9:124065283		E>D	B:121	(35.66, 70.30, 34.20)
9:124065297		E>G	B:126	(35.39, 73.92, 30.42)
9:124065300	COSM1173440 COSM1173439	S>L	B:127	(37.57, 75.80, 34.50)
9:124065314	rs367933536	G>S	B:132	(45.05, 77.27, 31.18)
9:124065330		G>V	B:137	(43.32, 75.24, 22.78)
9:124065332		L>V	B:138	(40.07, 73.09, 23.69)
9:124072989		H>Y	B:151	(43.71, 60.42, 20.74)
9:124072992	rs41305623	V>M	B:152	(47.14, 56.54, 18.33)
9:124072998		P>S	B:154	(47.66, 55.72, 11.38)
9:124073004		E>K	B:156	(48.75, 59.86, 6.78)
9:124073020		R>I	B:161	(39.25, 67.12, 10.67)
9:124073025		F>L	B:163	(37.44, 71.71, 13.48)
9:124073037		G>R	B:167	(35.98, 82.81, 20.78)
9:124073041	rs144099356	R>Q	B:168	(37.40, 87.92, 21.82)
9:124073052		R>C	B:172	(35.69, 76.63, 23.52)
9:124073053	rs150617780	R>H	B:172	(35.69, 76.63, 23.52)
9:124073089		N>T	B:184	(28.67, 81.43, 10.45)
9:124073110		L>P	B:191	(38.55, 72.32, 5.66)
9:124073114		D>E	B:192	(41.78, 69.12, 8.06)
9:124073122		N>S	B:195	(48.94, 67.45, 3.02)
9:124074623		H>D	B:198	(42.02, 75.08, 3.61)
9:124074641	rs11550199	N>D	B:204	(30.64, 89.53, 10.15)
9:124074649		N>K	B:206	(36.75, 90.68, 15.05)
9:124074650	rs371175865	R>W	B:207	(41.42, 91.95, 12.32)
9:124074651	rs375589943	R>Q	B:207	(41.42, 91.95, 12.32)
9:124074684	rs533077767	K>R	B:218	(50.49, 76.88, 14.18)
9:124074693		R>Q	B:221	(51.70, 73.53, 10.87)
9:124074701		E>K	B:224	(47.60, 66.59, 14.30)
9:124074705		R>Q	B:225	(49.10, 66.74, 10.29)
9:124074708		S>N	B:226	(54.93, 66.75, 11.85)
9:124074713		R>W	B:228	(55.73, 66.94, 6.91)
9:124074714		R>Q	B:228	(55.73, 66.94, 6.91)
9:124074716		A>T	B:229	(51.56, 71.16, 6.15)
9:124074720		R>Q	B:230	(51.26, 74.66, 2.49)
9:124074725		H>Y	B:232	(46.45, 77.03, 2.38)
9:124074728	rs570834330	V>M	B:233	(44.39, 81.94, 4.69)
9:124074729		V>A	B:233	(44.39, 81.94, 4.69)
9:124074734	rs369788495	E>Q	B:235	(38.63, 85.88, 3.33)
9:124074741	rs371320840	G>D	B:237	(35.14, 84.88, -1.94)
9:124074752		E>K	B:241	(39.61, 74.12, -6.77)
9:124074754		E>D	B:241	(39.61, 74.12, -6.77)
9:124074756		A>V	B:242	(39.64, 72.65, -2.48)
9:124074761		L>I	B:244	(34.57, 75.30, -3.77)
9:124074762	rs374011467	L>R	B:244	(34.57, 75.30, -3.77)
9:124076221		P>S	B:249	(28.46, 75.48, -4.57)
9:124076239		A>S	B:255	(24.60, 85.15, 11.37)
9:124076240		A>V	B:255	(24.60, 85.15, 11.37)
9:124076248	COSM1554044 COSM1554043	E>K	B:258	(28.59, 86.81, 20.69)
9:124076269	rs150568054	A>S	B:265	(26.77, 89.75, 36.19)
9:124076278	rs188214536	R>C	B:268	(30.64, 88.48, 40.83)
9:124076287		A>T	B:271	(26.58, 83.14, 48.58)
9:124076292		K>N	B:272	(23.57, 80.70, 50.15)
9:124076296		Y>H	B:274	(23.92, 75.05, 52.11)
9:124076297		Y>C	B:274	(23.92, 75.05, 52.11)
9:124076299		K>Q	B:275	(25.90, 70.79, 57.57)
9:124076300	rs148800857	K>R	B:275	(25.90, 70.79, 57.57)
9:124079368		S>F	B:277	(23.72, 65.54, 56.19)
9:124079370		N>Y	B:278	(23.52, 60.95, 55.28)
9:124079371		N>S	B:278	(23.52, 60.95, 55.28)
9:124079386		M>T	B:283	(21.36, 64.42, 50.40)
9:124079391		V>I	B:285	(21.20, 70.14, 53.09)
9:124079403		A>T	B:289	(25.13, 80.72, 55.83)
9:124079415		P>S	B:293	(31.07, 87.57, 54.38)
9:124079421		A>T	B:295	(32.48, 82.24, 59.19)
9:124079427		G>R	B:297	(34.02, 78.53, 61.85)
9:124079439		S>P	B:301	(36.57, 69.17, 60.73)
9:124079444		E>D	B:302	(33.77, 67.24, 62.60)
9:124079447		D>E	B:303	(31.23, 68.02, 59.13)
9:124079456		I>M	B:306	(27.97, 72.71, 49.77)
9:124079466	rs151155909	G>S	B:310	(25.34, 78.78, 41.00)
9:124079492		W>C	B:318	(35.74, 72.14, 53.90)
9:124080728		A>S	B:335	(27.45, 67.61, 44.14)
9:124080744	rs139028645	T>N	B:340	(19.43, 67.84, 41.17)
9:124080761		K>E	B:346	(23.27, 68.65, 34.20)
9:124080762		K>R	B:346	(23.27, 68.65, 34.20)
9:124080958		E>K	B:355	(40.80, 70.86, 56.44)
9:124080964		G>S	B:357	(43.54, 73.13, 50.48)
9:124080971		T>S	B:359	(41.26, 77.60, 46.58)
9:124081003	COSM3745810 COSM3745808 COSM3745809	R>W	B:370	(44.11, 84.68, 58.74)
9:124081014	rs367632035	D>E	B:373	(50.89, 75.64, 61.18)
9:124081016		Q>R	B:374	(50.16, 77.45, 56.51)
9:124081019		T>R	B:375	(52.73, 81.80, 59.27)
9:124081023		D>E	B:376	(55.89, 79.17, 59.78)
9:124081025	COSM3903718 COSM3903716 COSM3903717	G>V	B:377	(57.33, 79.90, 55.43)
9:124081057		A>T	B:388	(53.90, 79.20, 39.48)
9:124081063	rs375323203	V>M	B:390	(56.11, 84.39, 39.17)
9:124081069		R>W	B:392	(57.50, 85.33, 44.31)
9:124081070		R>Q	B:392	(57.50, 85.33, 44.31)
9:124081081	rs200018246	D>N	B:396	(66.40, 97.40, 45.45)
9:124081111	rs376180600	M>V	B:406	(60.54, 95.24, 41.56)
9:124081126	rs372218880	G>S	B:411	(53.39, 99.33, 43.23)
9:124081147	rs376488491	G>S	B:418	(60.04, 113.18, 40.71)
9:124081157	rs368537807	Q>R	B:421	(51.96, 120.31, 40.71)
9:124083546		I>V	B:422	(50.21, 119.08, 44.57)
9:124083558	rs368079865	E>K	B:426	(39.60, 126.04, 46.00)
9:124083568		N>S	B:429	(39.17, 126.01, 40.06)
9:124083585		P>S	B:435	(55.39, 124.13, 48.22)
9:124083607	rs375227932	Y>C	B:442	(44.30, 118.99, 55.41)
9:124083615	COSM752818 COSM1151201	D>N	B:445	(40.31, 118.97, 50.83)
9:124083619		S>N	B:446	(40.05, 117.09, 46.93)
9:124083642	rs116185403	R>C	B:454	(61.92, 108.42, 36.76)
9:124083643		R>H	B:454	(61.92, 108.42, 36.76)
9:124083649	rs148309276	G>D	B:456	(64.02, 102.91, 32.11)
9:124086848	rs576601788	T>A	B:472	(32.08, 118.48, 49.32)
9:124086856	rs141406100	D>E	B:474	(30.85, 119.84, 45.13)
9:124086863	COSM1104769 COSM1597934	A>T	B:477	(33.29, 115.71, 41.19)
9:124088790	rs370997492	S>G	B:497	(44.66, 107.18, 39.92)
9:124088793	rs138341672	R>C	B:498	(39.62, 106.28, 42.77)
9:124088794	rs142828669	R>H	B:498	(39.62, 106.28, 42.77)
9:124088796		V>L	B:499	(42.88, 107.68, 45.70)
9:124088817	rs375902120	A>T	B:506	(52.26, 102.48, 47.30)
9:124088828		M>I	B:509	(52.96, 106.13, 50.27)
9:124088839		G>D	B:513	(60.93, 111.89, 50.09)
9:124088850		M>L	B:517	(51.11, 110.63, 52.92)
9:124088857		I>T	B:519	(46.24, 111.54, 55.86)
9:124088860	rs139832048	Y>C	B:520	(45.97, 115.97, 58.55)
9:124088865		G>C	B:522	(38.92, 117.12, 58.22)
9:124088869	COSM1104770 COSM1155063	G>V	B:523	(39.99, 119.75, 56.84)
9:124088877	rs544227689	R>C	B:526	(40.09, 125.83, 51.66)
9:124088883		G>S	B:528	(39.84, 130.56, 54.95)
9:124088886	rs58750568	G>R	B:529	(39.72, 127.70, 57.07)
9:124088902		A>D	B:534	(41.36, 118.04, 67.50)
9:124088908	rs77681311	T>S	B:536	(42.58, 113.78, 71.26)
9:124088910		R>C	B:537	(44.97, 114.78, 66.32)
9:124088911	rs148410442	R>H	B:537	(44.97, 114.78, 66.32)
9:124088920		Q>R	B:540	(47.77, 103.97, 61.39)
9:124088921		Q>H	B:540	(47.77, 103.97, 61.39)
9:124088928	rs147554026	A>T	B:543	(54.89, 100.93, 55.76)
9:124088955		V>I	B:552	(46.33, 107.65, 58.73)
9:124089592	rs371993530	P>T	B:556	(40.47, 108.55, 69.17)
9:124089617		N>S	B:564	(51.85, 95.37, 62.12)
9:124089619		D>N	B:565	(51.60, 99.67, 62.42)
9:124089635	rs184844415	K>R	B:570	(48.27, 115.43, 70.30)
9:124089638	rs376326631	T>I	B:571	(47.10, 114.72, 74.48)
9:124089644	rs201307081	S>L	B:573	(49.02, 116.43, 78.19)
9:124089649		A>T	B:575	(53.03, 112.84, 73.21)
9:124089659		W>L	B:578	(51.78, 101.76, 70.13)
9:124089661	rs151208452	V>M	B:579	(56.32, 100.87, 69.04)
9:124089671		G>E	B:582	(56.01, 94.93, 64.04)
9:124089688	rs368207411	K>E	B:588	(60.68, 103.77, 64.80)
9:124089690		K>N	B:588	(60.68, 103.77, 64.80)
9:124089691	rs533621038	T>P	B:589	(61.53, 107.31, 61.10)
9:124089692	rs76463933	T>M	B:589	(61.53, 107.31, 61.10)
9:124089713		R>K	B:596	(60.08, 117.63, 62.44)
9:124089722	rs572579017	R>Q	B:599	(54.92, 122.85, 65.63)
9:124089725	rs567372749	A>G	B:600	(55.67, 117.50, 69.45)
9:124089760		D>Y	B:612	(48.19, 104.11, 82.95)
9:124091190	rs531299160	G>D	B:619	(39.08, 105.31, 76.56)
9:124091192	rs141082919	G>R	B:620	(40.50, 102.76, 77.32)
9:124091202		A>V	B:623	(40.48, 94.88, 71.43)
9:124091207		R>C	B:625	(44.02, 92.22, 64.86)
9:124091228	rs536159272	D>N	B:632	(56.34, 88.69, 50.65)
9:124091241		D>G	B:636	(50.58, 83.52, 47.19)
9:124091256	rs9696578	R>L	B:641	(42.47, 86.43, 39.14)
9:124091258		L>F	B:642	(42.79, 89.56, 33.09)
9:124091259		L>P	B:642	(42.79, 89.56, 33.09)
9:124091264		A>T	B:644	(36.71, 91.29, 30.24)
9:124091268		C>F	B:645	(34.39, 94.40, 30.56)
9:124091274		N>S	B:647	(27.95, 97.85, 29.91)
9:124091276		K>E	B:648	(25.31, 96.43, 25.11)
9:124091280		I>T	B:649	(21.93, 94.50, 27.00)
9:124091285	rs371328761 COSM3903727 COSM3903725 COSM3903726	R>C	B:651	(22.22, 93.00, 31.64)
9:124091292		V>A	B:653	(29.30, 91.29, 31.46)
9:124091519	COSM1743459 COSM1743458	E>K	B:655	(35.01, 86.69, 29.93)
9:124091559	rs144434647	T>M	B:668	(42.51, 96.69, 20.62)
9:124091567		V>I	B:671	(37.75, 97.55, 28.47)
9:124091585	rs186351262	W>R	B:677	(42.96, 91.99, 47.14)
9:124091588	rs377710586	D>H	B:678	(46.51, 96.33, 46.40)
9:124091590		D>E	B:678	(46.51, 96.33, 46.40)
9:124093700		E>V	B:691	(29.96, 103.95, 25.18)
9:124094717	COSM3903730 COSM3903728 COSM3903729	R>W	B:702	(29.21, 98.61, 37.85)
9:124094718		R>Q	B:702	(29.21, 98.61, 37.85)
9:124094720		Y>H	B:703	(35.60, 93.56, 39.59)
9:124094730	rs142854368	T>M	B:706	(30.09, 92.58, 42.23)
9:124094742	rs143285592	N>S	B:710	(32.67, 92.24, 50.59)
9:124094745		R>Q	B:711	(37.37, 93.92, 46.94)
9:124094750	rs148360076	R>W	B:713	(32.44, 100.62, 48.04)
9:124094751	COSM3653812 COSM3653810 COSM3653811	R>Q	B:713	(32.44, 100.62, 48.04)
9:124094753	rs546941257 COSM3653815 COSM3653813 COSM3653814	R>W	B:714	(38.42, 102.90, 51.12)
9:124094754	rs141510612	R>Q	B:714	(38.42, 102.90, 51.12)
9:124094757		T>M	B:715	(39.82, 99.97, 46.03)
9:124094768		V>M	B:719	(42.79, 104.36, 34.03)
9:124094771		V>M	B:720	(45.79, 102.23, 31.70)
9:124094801	rs139420096	V>M	B:730	(53.91, 95.81, 31.91)
9:124094822		D>H	B:737	(56.96, 93.77, 22.94)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:124064325	COSM3653792	D>N	B:50	(41.87, 51.70, 31.81)
9:124064376	COSM3903699	A>T	B:67	(36.17, 60.69, 29.43)
9:124073059	COSM4689101	T>I	B:174	(33.67, 72.31, 17.46)
9:124073097	COSM1459756	D>N	B:187	(32.36, 82.25, 13.35)
9:124080952	COSM3926099	L>F	B:353	(38.27, 71.82, 48.41)
9:124080967	COSM1755904	E>Q	B:358	(41.66, 75.59, 51.38)
9:124081003	COSM3745810	R>W	B:370	(44.11, 84.68, 58.74)
9:124094867	COSM4163291	E>Q	B:752	(55.86, 86.38, 11.57)

3FFN.B | GSN.

3FFN.B | GSN

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants