3PE0.A | PLEC – ASTRID

3PE0.A | PLEC

General Structure Information

PDB ID	3pe0
HGNC Gene Label(s)	PLEC
Structure Name	structure of the central region of the plakin domain of plectin
Resolution	2.95Å
Reference	AUTH E.ORTEGA,R.M.BUEY,A.SONNENBERG,J.M.DE PEREDATITL THE STRUCTURE OF THE PLAKIN DOMAIN OF PLECTIN REVEALS ATITL 2 NON-CANONICAL SH3 DOMAIN INTERACTING WITH ITS FOURTHTITL 3 SPECTRIN REPEAT.REF J.BIOL.CHEM. V. 286 12429 2011REFN ISSN 0021-9258PMID 21288893DOI 10.1074/JBC.M110.197467

Variant Set Distributions

ExAC Variants

Number Of Residues	271
Number Of SNVs	85
Number Of Permutations	28226
Optimal Distance Threshold	25.0
K Statistic	0.346
p-value	0.272

COSMIC

Number Of Residues	271
Number Of SNVs	3
Number Of Permutations	44
Optimal Distance Threshold	28.0
K Statistic	0.333
p-value	1.0

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	85
Number Of COSMIC SNVs	3
Optimal Distance Threshold	23.0
K Statistic	-0.309
p-value	0.907

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
8:145006699	rs374446764	E>Q	A:643	(77.77, 101.05, 143.15)
8:145006696		S>G	A:644	(77.60, 96.59, 144.89)
8:145006688		H>Q	A:646	(72.54, 98.08, 141.37)
8:145006684		F>L	A:648	(75.64, 90.60, 141.17)
8:145006678		A>T	A:650	(74.46, 93.79, 135.68)
8:145006672		A>T	A:652	(74.70, 88.54, 135.83)
8:145006669		T>P	A:653	(72.08, 90.06, 133.37)
8:145006664		K>N	A:654	(76.96, 90.29, 130.22)
8:145006666		K>E	A:654	(76.96, 90.29, 130.22)
8:145006655		M>I	A:657	(72.19, 87.93, 127.93)
8:145006644	rs199910537	E>G	A:661	(73.09, 83.67, 122.53)
8:145006645		E>K	A:661	(73.09, 83.67, 122.53)
8:145006641		K>R	A:662	(75.56, 80.44, 122.87)
8:145006642	rs369207565	K>E	A:662	(75.56, 80.44, 122.87)
8:145006639		E>K	A:663	(70.21, 77.37, 125.57)
8:145006636	COSM749668 COSM1151083 COSM1648038 COSM749669	E>K	A:664	(68.27, 79.17, 122.42)
8:145006627		V>L	A:667	(68.57, 73.39, 121.29)
8:145006618	rs375857355 COSM1097140 COSM1597508 COSM1597509 COSM1097141	D>H	A:670	(70.06, 70.44, 111.79)
8:145006596		N>S	A:677	(78.95, 72.11, 107.28)
8:145006594	rs367673910	M>V	A:678	(79.57, 68.32, 110.38)
8:145006590	rs190470017	T>I	A:679	(83.89, 70.94, 109.09)
8:145006582		K>E	A:682	(84.99, 70.23, 114.26)
8:145006575		S>N	A:684	(81.93, 76.54, 116.02)
8:145006576		S>C	A:684	(81.93, 76.54, 116.02)
8:145006569		S>L	A:686	(86.44, 74.90, 119.02)
8:145006401		A>V	A:687	(85.30, 78.41, 119.46)
8:145006398		L>Q	A:688	(81.86, 77.62, 122.24)
8:145006366		I>F	A:699	(80.92, 82.86, 135.93)
8:145006359		E>V	A:701	(84.58, 87.55, 139.31)
8:145006356		L>P	A:702	(79.95, 87.11, 139.18)
8:145006357		L>F	A:702	(79.95, 87.11, 139.18)
8:145006353		Q>R	A:703	(79.13, 83.00, 142.00)
8:145006338	rs561259506 COSM302943 COSM302944	R>Q	A:708	(82.06, 89.73, 148.14)
8:145006339		R>W	A:708	(82.06, 89.73, 148.14)
8:145006330		R>W	A:711	(80.25, 87.90, 153.73)
8:145006317		P>L	A:715	(66.77, 93.62, 151.23)
8:145006318		P>A	A:715	(66.77, 93.62, 151.23)
8:145006315		A>T	A:716	(68.30, 91.59, 148.08)
8:145006312		R>W	A:717	(70.19, 86.70, 151.04)
8:145006305		T>M	A:719	(67.25, 88.54, 144.01)
8:145006303		V>M	A:720	(71.47, 87.59, 144.99)
8:145006187		A>V	A:726	(71.11, 80.83, 137.44)
8:145006178		T>M	A:729	(71.82, 76.03, 136.32)
8:145006170		S>R	A:732	(76.15, 73.22, 134.05)
8:145006148		C>Y	A:739	(78.38, 66.51, 125.86)
8:145006145	rs553811387	C>S	A:740	(75.58, 66.80, 123.04)
8:145006143	rs189137260	I>V	A:741	(78.25, 69.19, 120.50)
8:145006140	rs369024560	E>K	A:742	(81.97, 65.96, 121.64)
8:145006118		A>V	A:749	(80.94, 61.98, 110.77)
8:145006119	rs372281911	A>T	A:749	(80.94, 61.98, 110.77)
8:145005812	COSM3898049 COSM3898052 COSM3898051 COSM3898054 COSM3898053 COSM3898050	R>W	A:759	(78.03, 57.33, 98.04)
8:145005803		E>K	A:762	(77.85, 52.04, 94.37)
8:145005769	rs200887085	R>H	A:773	(77.63, 44.62, 80.92)
8:145005757	rs367732835	S>T	A:777	(79.39, 42.72, 74.09)
8:145005751		D>V	A:779	(84.25, 42.30, 67.92)
8:145005748		R>H	A:780	(86.79, 40.16, 72.01)
8:145005743	rs200173947	A>T	A:782	(90.57, 41.16, 66.26)
8:145005737	COSM1097136 COSM1597512 COSM1597513 COSM1097137	V>I	A:784	(94.56, 43.09, 68.81)
8:145005734		T>A	A:785	(91.17, 41.56, 71.02)
8:145005731	COSM1097134 COSM1154965 COSM1097135	R>W	A:786	(92.32, 36.38, 69.18)
8:145005712		Q>L	A:792	(94.75, 39.92, 80.67)
8:145004701	rs369133057	E>K	A:797	(90.59, 39.54, 86.88)
8:145004698		K>Q	A:798	(89.02, 35.61, 91.78)
8:145004683		E>K	A:803	(91.18, 41.95, 97.66)
8:145004668		L>F	A:808	(81.87, 44.39, 100.97)
8:145004650		R>W	A:814	(82.00, 50.84, 108.85)
8:145004638	rs562442802 COSM1674311 COSM1674313 COSM1674314 COSM1674312	V>I	A:818	(75.58, 53.65, 111.66)
8:145004620		R>C	A:824	(67.55, 63.65, 114.94)
8:145004598		R>Q	A:831	(56.01, 53.64, 112.15)
8:145004592		R>H	A:833	(58.87, 53.75, 118.45)
8:145004574		V>A	A:839	(74.32, 62.20, 124.96)
8:145004466		V>L	A:847	(62.07, 64.17, 133.78)
8:145004447	rs369344419	D>G	A:853	(69.51, 57.02, 130.36)
8:145004445		E>K	A:854	(68.02, 52.80, 126.87)
8:145004441		C>Y	A:855	(64.93, 56.38, 126.00)
8:145004436		L>V	A:857	(60.77, 59.08, 120.26)
8:145004429		G>D	A:859	(56.96, 62.93, 119.90)
8:145004427		P>S	A:860	(56.54, 65.69, 117.91)
8:145004417		P>L	A:863	(59.92, 73.52, 118.48)
8:145004399		L>H	A:869	(58.97, 57.16, 127.20)
8:145004384	COSM1221021 COSM1221023 COSM1221022	S>N	A:874	(58.60, 58.89, 132.83)
8:145004385		S>G	A:874	(58.60, 58.89, 132.83)
8:145004382	COSM3779050 COSM3779053 COSM3779052 COSM3779055 COSM3779054 COSM3779051	E>K	A:875	(55.70, 61.25, 129.18)
8:145004376	rs58836306	A>T	A:877	(59.67, 67.08, 127.05)
8:145004373	rs200647397	V>M	A:878	(63.50, 66.47, 126.13)
8:145004360		C>S	A:882	(69.79, 65.11, 124.72)
8:145004357		F>C	A:883	(68.00, 62.09, 123.43)
8:145004330	rs3135108	A>V	A:892	(72.96, 50.89, 106.06)
8:145004331		A>T	A:892	(72.96, 50.89, 106.06)
8:145004324		E>G	A:894	(68.87, 47.35, 103.68)
8:145004319		V>I	A:896	(76.15, 46.65, 102.75)
8:145004201		T>M	A:908	(78.58, 34.47, 88.86)
8:145004202		T>A	A:908	(78.58, 34.47, 88.86)
8:145004194		W>C	A:910	(85.69, 35.89, 86.52)
8:145004190		Q>E	A:912	(79.80, 31.53, 83.00)
8:145004181	rs377225173	V>M	A:915	(85.19, 28.51, 83.59)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
8:145006674	COSM3834245	A>G	A:651	(76.94, 91.26, 135.39)
8:145006626	COSM1097142	V>E	A:667	(68.57, 73.39, 121.29)
8:145005706	COSM1722511	A>V	A:794	(92.22, 35.86, 85.49)
8:145004638	COSM4633035	V>I	A:818	(75.58, 53.65, 111.66)

3PE0.A | PLEC.

3PE0.A | PLEC

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants