3EDV.B | SPTBN1

General Structure Information

PDB ID	3edv
HGNC Gene Label(s)	SPTBN1
Structure Name	crystal structure of repeats 14-16 of beta2-spectrin
Resolution	1.95Å
Reference	AUTH L.DAVIS,K.ABDI,M.MACHIUS,C.BRAUTIGAM,D.R.TOMCHICK,AUTH 2 V.BENNETT,P.MICHAELYTITL LOCALIZATION AND STRUCTURE OF THE ANKYRIN-BINDINGTITL 2 SITE ON BETA2-SPECTRINREF J.BIOL.CHEM. V. 284 6982 2009REFN ISSN 0021-9258PMID 19098307DOI 10.1074/JBC.M809245200

Variant Set Distributions

ExAC Variants

Number Of Residues	318
Number Of SNVs	83
Number Of Permutations	73956
Optimal Distance Threshold	30.0
K Statistic	0.347
p-value	0.11

COSMIC

Number Of Residues	318
Number Of SNVs	6
Number Of Permutations	8006
Optimal Distance Threshold	9.0
K Statistic	0.133
p-value	0.584

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	83
Number Of COSMIC SNVs	4
Optimal Distance Threshold	30.0
K Statistic	-0.347
p-value	0.223

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:54876218	rs142254768	H>R	B:1698	(36.14, 60.89, 52.43)
2:54876239		R>Q	B:1705	(37.14, 60.30, 44.19)
2:54876250		D>N	B:1709	(37.51, 56.08, 37.26)
2:54876256		E>K	B:1711	(30.96, 56.64, 34.11)
2:54876264		W>C	B:1713	(36.45, 50.52, 32.03)
2:54876268		A>T	B:1715	(33.54, 54.96, 27.50)
2:54876286		A>S	B:1721	(31.58, 47.86, 21.12)
2:54876292		S>P	B:1723	(32.62, 48.72, 15.92)
2:54876326		T>M	B:1734	(37.65, 34.77, 11.90)
2:54876752		M>V	B:1735	(40.32, 38.93, 13.48)
2:54876770	COSM4094838 COSM4094839	R>W	B:1741	(34.79, 35.26, 21.19)
2:54876771		R>Q	B:1741	(34.79, 35.26, 21.19)
2:54876783		R>Q	B:1745	(37.00, 37.02, 28.62)
2:54876789	rs373574785	T>S	B:1747	(34.85, 44.16, 29.59)
2:54876791	rs150351061	G>R	B:1748	(33.28, 41.75, 32.39)
2:54876798	rs149492547	I>T	B:1750	(37.61, 44.24, 34.64)
2:54876812	COSM4094840 COSM4094841	V>M	B:1755	(29.63, 47.96, 38.95)
2:54876821		V>F	B:1758	(30.23, 51.58, 43.06)
2:54876825		N>S	B:1759	(26.22, 49.62, 43.27)
2:54876830		L>V	B:1761	(30.16, 52.18, 48.24)
2:54876831		L>R	B:1761	(30.16, 52.18, 48.24)
2:54876836		D>Y	B:1763	(23.29, 50.89, 48.20)
2:54876870		A>V	B:1774	(19.39, 61.85, 45.59)
2:54876875	rs370016840	I>V	B:1776	(24.11, 58.94, 46.08)
2:54876878	rs528705437	A>T	B:1777	(20.96, 57.70, 43.19)
2:54876890		D>H	B:1781	(20.61, 55.24, 38.36)
2:54876911		A>P	B:1788	(23.68, 48.09, 30.43)
2:54876914		D>N	B:1789	(23.77, 50.72, 27.55)
2:54876917		L>V	B:1790	(28.81, 48.22, 27.37)
2:54876918		L>H	B:1790	(28.81, 48.22, 27.37)
2:54876930	rs200631796	I>T	B:1794	(29.11, 43.55, 24.07)
2:54876935		T>A	B:1796	(24.57, 43.68, 19.23)
2:54876954		A>V	B:1802	(28.09, 35.50, 14.13)
2:54876956	rs372319582	A>T	B:1803	(26.29, 36.35, 11.22)
2:54876962		Y>N	B:1805	(31.99, 32.48, 11.14)
2:54876975		K>R	B:1809	(31.72, 28.76, 7.14)
2:54876986	COSM1021708 COSM1021709	D>N	B:1813	(32.39, 25.59, 3.22)
2:54877007	COSM1408571 COSM1408572	R>S	B:1820	(37.17, 18.88, -1.36)
2:54877010		I>V	B:1821	(33.29, 18.03, -6.57)
2:54877014	rs146380966	Q>R	B:1822	(35.61, 19.61, -10.41)
2:54877023		H>P	B:1825	(34.69, 14.71, -12.65)
2:54877027		K>N	B:1826	(39.87, 16.61, -12.88)
2:54877028	rs148585973	K>E	B:1827	(41.57, 11.87, -9.64)
2:54877043		L>V	B:1832	(36.25, 0.37, -20.07)
2:54877050		R>T	B:1834	(43.93, -4.71, -22.65)
2:54877052		D>N	B:1835	(41.21, -8.46, -19.98)
2:54877078	rs188468007	Q>H	B:1843	(34.25, -3.61, -12.38)
2:54877089		T>S	B:1847	(33.19, 0.15, -6.28)
2:54877100		H>Y	B:1851	(33.15, 4.04, -0.41)
2:54877106	rs151100181	I>V	B:1853	(32.31, 10.09, -3.76)
2:54877111		Q>H	B:1854	(28.96, 9.15, -0.72)
2:54877112	rs372519284	A>S	B:1855	(32.04, 12.10, 1.93)
2:54880746	COSM1668933 COSM1668934	V>L	B:1860	(26.90, 18.56, -0.48)
2:54880762		E>V	B:1865	(21.49, 21.35, 6.30)
2:54880773	rs572348285	R>C	B:1869	(21.34, 27.85, 9.00)
2:54880774		R>H	B:1869	(21.34, 27.85, 9.00)
2:54880783		A>V	B:1872	(15.95, 32.45, 6.77)
2:54880806	rs375121259 COSM1408575 COSM1408576	D>N	B:1880	(19.10, 35.36, -4.46)
2:54880817		Q>H	B:1883	(19.89, 29.26, -4.07)
2:54880818		K>E	B:1884	(22.80, 32.16, -7.48)
2:54880821	rs573784455	R>C	B:1885	(28.52, 28.96, -4.78)
2:54880822		R>H	B:1885	(28.52, 28.96, -4.78)
2:54880824	COSM362021 COSM362022	E>K	B:1886	(23.05, 25.56, -2.90)
2:54880830		E>K	B:1888	(27.66, 27.08, -8.65)
2:54880833	rs562656789	V>I	B:1889	(27.88, 22.84, -5.45)
2:54880846		W>S	B:1893	(27.74, 15.35, -5.81)
2:54880847		W>C	B:1893	(27.74, 15.35, -5.81)
2:54880863		A>T	B:1899	(30.00, 10.10, -14.45)
2:54880870		E>G	B:1901	(25.79, 5.34, -13.28)
2:54880871		E>D	B:1901	(25.79, 5.34, -13.28)
2:54880885	rs373326337	R>Q	B:1906	(31.40, 2.73, -20.42)
2:54880900	rs551497836	G>E	B:1911	(32.34, -7.41, -19.02)
2:54880910		F>L	B:1914	(35.91, -9.14, -22.45)
2:54880927		V>A	B:1920	(32.68, -18.84, -26.72)
2:54880935		L>F	B:1923	(32.30, -24.12, -25.31)
2:54880946		W>C	B:1926	(33.99, -29.58, -25.19)
2:54880982		E>D	B:1938	(42.47, -47.01, -33.88)
2:54880989		R>G	B:1941	(42.17, -54.37, -36.56)
2:54882221	rs202119435	V>A	B:1946	(33.40, -52.87, -31.86)
2:54882248		G>A	B:1955	(31.06, -41.39, -23.45)
2:54882285	COSM1306879 COSM1306880	F>L	B:1967	(26.59, -25.01, -25.52)
2:54882295	rs200738185	I>V	B:1971	(23.43, -19.01, -26.46)
2:54882311	rs140417011	S>Y	B:1976	(20.98, -10.39, -23.81)
2:54882320		A>V	B:1979	(18.64, -7.09, -26.95)
2:54883054		K>E	B:1989	(25.76, -11.29, -34.46)
2:54883067		L>P	B:1993	(27.05, -17.80, -36.09)
2:54883075		T>A	B:1996	(26.36, -22.85, -33.78)
2:54883099		D>N	B:2004	(27.77, -33.90, -37.85)
2:54883115	COSM1532048 COSM1532049	R>Q	B:2009	(33.00, -42.55, -36.04)
2:54883121		E>G	B:2011	(26.08, -43.74, -38.63)

3EDV.B | SPTBN1.

3EDV.B | SPTBN1

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

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:54876765	COSM1668931	R>Q	B:1739	(41.40, 40.10, 18.41)
2:54876770	COSM4094838	R>W	B:1741	(34.79, 35.26, 21.19)
2:54880806	COSM1408575	D>N	B:1880	(19.10, 35.36, -4.46)
2:54880911	COSM221948	R>C	B:1915	(30.37, -13.01, -18.64)
2:54880925	COSM315581	M>I	B:1919	(31.21, -18.29, -21.78)
2:54882226	COSM1668936	L>F	B:1948	(36.22, -50.81, -26.20)