2O8D.B | MSH6 – ASTRID

2O8D.B | MSH6

General Structure Information

PDB ID	2o8d
HGNC Gene Label(s)	MSH6
Structure Name	human mutsalpha (msh2/msh6) bound to adp and a g du mispair
Resolution	3.0Å
Reference	AUTH J.J.WARREN,T.J.POHLHAUS,A.CHANGELA,R.R.IYER,P.L.MODRICH,AUTH 2 L.S.BEESETITL STRUCTURE OF THE HUMAN MUTSALPHA DNA LESION RECOGNITIONTITL 2 COMPLEX.REF MOL.CELL V. 26 579 2007REFN ISSN 1097-2765PMID 17531815DOI 10.1016/J.MOLCEL.2007.04.018

Variant Set Distributions

ExAC Variants

Number Of Residues	932
Number Of SNVs	295
Number Of Permutations	81647
Optimal Distance Threshold	10.0
K Statistic	0.016
p-value	0.034

ClinVar

Number Of Residues	932
Number Of SNVs	14
Number Of Permutations	7289
Optimal Distance Threshold	31.0
K Statistic	0.198
p-value	0.658

COSMIC

Number Of Residues	932
Number Of SNVs	19
Number Of Permutations	38852
Optimal Distance Threshold	59.0
K Statistic	0.567
p-value	0.057

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	295
Number Of ClinVar SNVs	17
Optimal Distance Threshold	10.0
K Statistic	-0.016
p-value	0.907

Cosmic vs. ExAC

Number Of ExAC SNVs	295
Number Of COSMIC SNVs	16
Optimal Distance Threshold	59.0
K Statistic	-0.233
p-value	0.086

Pathogenic Proximity Analysis

ClinVar PathProx Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:48026207	rs267608056 MMR_c.1085delC CD092691	P>L	B:362	(-38.21, 46.46, 43.61)
2:48026215		W>R	B:365	(-42.89, 43.37, 45.04)
2:48026228	rs375974046	T>I	B:369	(-42.32, 42.82, 54.63)
2:48026252	rs550221570	K>T	B:377	(-46.03, 34.79, 62.18)
2:48026263	rs142111387	E>K	B:381	(-61.92, 36.43, 61.09)
2:48026266		H>Y	B:382	(-62.19, 34.49, 64.80)
2:48026273		R>M	B:384	(-59.12, 30.47, 64.52)
2:48026281		D>H	B:387	(-53.22, 23.74, 64.21)
2:48026284		H>D	B:388	(-58.10, 25.58, 65.57)
2:48026290	rs147737737	D>N	B:390	(-62.61, 25.53, 64.31)
2:48026298		D>E	B:392	(-61.65, 30.06, 58.03)
2:48026300		A>G	B:393	(-58.79, 29.65, 55.20)
2:48026306		T>I	B:395	(-60.21, 34.26, 57.06)
2:48026308	rs2020908	L>V	B:396	(-56.28, 37.48, 57.10)
2:48026312	rs63750065	Y>C	B:397	(-55.04, 39.27, 62.77)
2:48026314		V>L	B:398	(-55.51, 42.34, 59.67)
2:48026333		N>S	B:404	(-56.25, 52.09, 61.96)
2:48026345		P>L	B:408	(-58.59, 55.44, 53.04)
2:48026377		Q>E	B:419	(-64.14, 39.09, 55.49)
2:48026392		V>L	B:424	(-58.66, 37.34, 43.15)
2:48026395	rs63749971	I>V	B:425	(-59.79, 41.39, 45.11)
2:48026404		K>E	B:428	(-63.59, 49.75, 39.85)
2:48026417		F>C	B:432	(-58.26, 51.38, 35.31)
2:48026447	COSM3728169	I>T	B:442	(-52.04, 36.13, 40.36)
2:48026464		G>R	B:448	(-49.52, 39.54, 31.54)
2:48026468	rs63750741	L>P	B:449	(-50.77, 42.03, 33.77)
2:48026476	COSM3407879	M>V	B:452	(-47.92, 49.77, 38.30)
2:48026480		K>R	B:453	(-43.93, 53.62, 39.54)
2:48026486	rs200938360	N>T	B:455	(-42.13, 49.93, 46.75)
2:48026491	rs267608052 MMR_c.1369G>C	A>P	B:457	(-47.60, 45.01, 44.20)
2:48026500		G>R	B:460	(-54.26, 46.30, 35.79)
2:48026524	rs369456858	R>C	B:468	(-60.46, 39.57, 27.53)
2:48026525	rs41295268	R>H	B:468	(-60.46, 39.57, 27.53)
2:48026528		Y>C	B:469	(-57.50, 40.14, 31.52)
2:48026535		D>E	B:471	(-62.79, 33.69, 31.69)
2:48026567	COSM1021268	R>Q	B:482	(-67.80, 42.53, 40.09)
2:48026579	rs577713548	T>I	B:486	(-71.62, 52.26, 44.77)
2:48026584		T>A	B:488	(-70.22, 59.45, 41.99)
2:48026594		M>T	B:491	(-73.03, 60.58, 44.96)
2:48026596	rs61754783	M>V	B:492	(-68.39, 62.05, 48.00)
2:48026602		A>S	B:494	(-73.35, 65.00, 49.09)
2:48026609		C>Y	B:496	(-69.57, 65.11, 52.83)
2:48026615	rs147136417	K>R	B:498	(-75.55, 65.45, 53.90)
2:48026623		H>Y	B:501	(-67.81, 66.23, 62.69)
2:48026627		I>T	B:502	(-65.61, 65.13, 57.38)
2:48026630	rs63750897	S>C	B:503	(-63.47, 61.35, 58.32)
2:48026644		V>M	B:508	(-63.31, 57.50, 49.58)
2:48026648	rs63751005	V>A	B:509	(-65.90, 56.37, 46.45)
2:48026653		R>G	B:511	(-64.83, 51.43, 46.55)
2:48026659		I>V	B:513	(-68.53, 42.52, 46.95)
2:48026684	rs149159527	T>I	B:521	(-70.73, 30.13, 40.16)
2:48026688		Q>H	B:522	(-69.51, 30.26, 35.34)
2:48026689		T>P	B:523	(-73.97, 33.37, 34.91)
2:48026696		S>N	B:525	(-72.84, 37.91, 32.09)
2:48026721	rs373726731	E>D	B:533	(-68.34, 22.76, 27.52)
2:48026726	rs376476188	Y>C	B:535	(-71.73, 18.98, 26.68)
2:48026728		S>G	B:536	(-73.45, 20.88, 31.93)
2:48026731		K>E	B:537	(-69.77, 23.03, 33.68)
2:48026759	rs373554374 CD107745	E>G	B:546	(-72.04, 7.98, 58.99)
2:48026768	rs200447622 COSM94731	S>Y	B:549	(-78.96, -0.95, 57.98)
2:48026778		H>Q	B:552	(-78.84, 0.56, 52.75)
2:48026782		R>C	B:554	(-72.56, 5.45, 53.63)
2:48026783		R>H	B:554	(-72.56, 5.45, 53.63)
2:48026789	rs63751312 MMR_c.1667A>T	Y>C	B:556	(-74.49, 10.26, 50.49)
2:48026818	rs63749973	G>R	B:566	(-81.11, 26.79, 36.95)
2:48026819		G>A	B:566	(-81.11, 26.79, 36.95)
2:48026823		K>N	B:567	(-82.80, 22.19, 36.37)
2:48026830	rs61748081	I>V	B:570	(-83.12, 18.17, 45.52)
2:48026833		G>R	B:571	(-81.84, 14.61, 47.03)
2:48026838		Q>H	B:572	(-82.52, 11.90, 50.86)
2:48026842		S>T	B:574	(-79.33, 5.06, 50.40)
2:48026851	rs542838372	R>G	B:577	(-68.71, -0.89, 52.72)
2:48026852	rs376220212 COSM1215570	R>H	B:577	(-68.71, -0.89, 52.72)
2:48026861	rs41295270	S>L	B:580	(-71.96, 3.19, 44.11)
2:48026868	rs201518545	F>L	B:582	(-71.20, 10.25, 45.49)
2:48026899		Q>E	B:593	(-67.50, 24.12, 43.17)
2:48026902		V>I	B:594	(-67.95, 20.32, 46.07)
2:48026908		F>I	B:596	(-67.49, 20.15, 52.48)
2:48026917		G>R	B:599	(-67.80, 17.26, 59.92)
2:48026935		T>A	B:605	(-66.62, 10.60, 50.72)
2:48026936		T>S	B:605	(-66.62, 10.60, 50.72)
2:48026944	rs201613780	I>V	B:608	(-64.38, 9.82, 46.14)
2:48026966	COSM1532207	C>S	B:615	(-59.89, 18.60, 39.50)
2:48026969		S>C	B:616	(-62.50, 19.97, 41.80)
2:48026971		L>I	B:617	(-63.12, 23.83, 43.37)
2:48026975		Q>R	B:618	(-62.84, 20.76, 47.27)
2:48026979	rs63751121	E>D	B:619	(-65.49, 25.14, 49.04)
2:48026989	rs3136334	P>A	B:623	(-71.51, 23.80, 61.02)
2:48026990	rs63750462 MMR_c.1868C>T COSM13891	P>H	B:623	(-71.51, 23.80, 61.02)
2:48026993		G>V	B:624	(-75.30, 26.29, 60.62)
2:48026996		S>F	B:625	(-73.49, 29.24, 59.95)
2:48027016		K>E	B:632	(-81.55, 28.25, 58.59)
2:48027037	rs143517321	E>K	B:639	(-87.33, 35.02, 55.39)
2:48027054	rs34938432	R>S	B:644	(-93.90, 36.54, 45.95)
2:48027059	rs201096652 COSM4094437	K>R	B:646	(-92.08, 32.12, 38.87)
2:48027068		D>V	B:649	(-100.55, 32.82, 46.44)
2:48027073	rs536562413	I>V	B:651	(-101.48, 36.91, 52.09)
2:48027074	rs144823143	I>T	B:651	(-101.48, 36.91, 52.09)
2:48027075		I>M	B:651	(-101.48, 36.91, 52.09)
2:48027079		V>L	B:653	(-95.79, 32.10, 48.42)
2:48027083		M>T	B:654	(-96.76, 28.26, 46.35)
2:48027084	rs148592158	M>I	B:654	(-96.76, 28.26, 46.35)
2:48027119		S>F	B:666	(-98.33, 22.09, 57.91)
2:48027127		I>V	B:669	(-95.26, 23.59, 64.19)
2:48027128	rs555209664	I>T	B:669	(-95.26, 23.59, 64.19)
2:48027139	rs377356882	P>A	B:673	(-88.52, 19.35, 57.76)
2:48027149	rs143643688	K>R	B:676	(-88.12, 9.84, 54.13)
2:48027154		E>Q	B:678	(-83.63, 15.94, 57.83)
2:48027158		L>S	B:679	(-79.81, 14.76, 54.48)
2:48027167	rs140472824	S>C	B:682	(-79.03, 20.65, 54.40)
2:48027170		A>V	B:683	(-77.97, 20.55, 50.82)
2:48027172		L>V	B:684	(-80.91, 23.58, 49.20)
2:48027191		Y>S	B:690	(-70.88, 29.51, 47.48)
2:48027193		L>F	B:691	(-75.75, 30.95, 45.24)
2:48027196		K>Q	B:692	(-76.92, 34.81, 49.83)
2:48027214	rs63750832	Q>E	B:698	(-81.93, 37.29, 44.47)
2:48027229		M>V	B:703	(-85.80, 30.33, 37.41)
2:48027233	rs370237509	A>G	B:704	(-88.56, 27.89, 40.26)
2:48027251		I>T	B:710	(-84.36, 9.37, 42.00)
2:48027311		Y>C	B:730	(-90.43, 5.11, 32.37)
2:48027317	COSM1408304	R>Q	B:732	(-84.20, 5.33, 31.73)
2:48027348		N>K	B:742	(-64.45, 0.71, 31.49)
2:48027355		I>V	B:745	(-70.09, 5.98, 26.82)
2:48027357	rs556339046	I>M	B:745	(-70.09, 5.98, 26.82)
2:48027371		T>K	B:750	(-57.49, 6.04, 27.14)
2:48027382	rs545057945	T>P	B:754	(-58.86, 12.63, 23.72)
2:48027403	rs199876321	R>G	B:761	(-69.47, 7.68, 15.46)
2:48027404		R>T	B:761	(-69.47, 7.68, 15.46)
2:48027413	rs561198849 CM057195	T>N	B:764	(-74.59, 14.77, 14.27)
2:48027420		H>Q	B:766	(-77.38, 20.23, 13.78)
2:48027421		T>S	B:767	(-78.85, 22.11, 18.76)
2:48027422		T>S	B:767	(-78.85, 22.11, 18.76)
2:48027424	rs35946687	P>A	B:768	(-76.74, 23.53, 21.69)
2:48027425	COSM721726	P>H	B:768	(-76.74, 23.53, 21.69)
2:48027437	rs63750725	R>Q	B:772	(-77.21, 20.42, 26.52)
2:48027445		K>Q	B:775	(-75.28, 13.13, 28.33)
2:48027461	rs63749899 MMR_c.2339C>G CM062880	A>V	B:780	(-80.18, 6.52, 30.17)
2:48027469	rs373721483	C>S	B:783	(-86.03, -0.95, 29.75)
2:48027478		Y>H	B:786	(-94.49, 2.24, 23.56)
2:48027493		R>C	B:791	(-86.38, 6.49, 21.29)
2:48027494		R>H	B:791	(-86.38, 6.49, 21.29)
2:48027506	rs202127474	I>T	B:795	(-85.30, 6.52, 13.39)
2:48027530	rs63751450	D>G	B:803	(-86.65, 16.46, 0.63)
2:48027539	rs372990379	S>C	B:806	(-82.67, 19.07, 4.33)
2:48027550		E>Q	B:810	(-79.74, 24.18, 6.83)
2:48027551		E>V	B:810	(-79.74, 24.18, 6.83)
2:48027565	rs377411318	L>F	B:815	(-80.94, 27.71, 16.45)
2:48027566		L>R	B:815	(-80.94, 27.71, 16.45)
2:48027598		H>D	B:826	(-84.68, 35.42, 34.87)
2:48027605		V>A	B:828	(-81.30, 41.18, 32.87)
2:48027623		S>N	B:834	(-83.70, 45.49, 41.01)
2:48027631		H>Y	B:837	(-77.60, 43.26, 43.92)
2:48027633		H>Q	B:837	(-77.60, 43.26, 43.92)
2:48027635		P>L	B:838	(-74.90, 45.48, 45.12)
2:48027646		A>P	B:842	(-72.92, 50.09, 40.01)
2:48027661		E>K	B:847	(-74.07, 50.46, 30.62)
2:48027662		E>G	B:847	(-74.07, 50.46, 30.62)
2:48027673		S>G	B:851	(-77.18, 47.99, 26.13)
2:48027683	rs34374438	K>M	B:854	(-78.40, 43.45, 27.53)
2:48027684		K>N	B:854	(-78.40, 43.45, 27.53)
2:48027688		I>F	B:856	(-77.73, 41.63, 20.21)
2:48027691	rs368437140 CD107737	D>N	B:857	(-78.72, 38.52, 23.54)
2:48027692		D>G	B:857	(-78.72, 38.52, 23.54)
2:48027701	rs370412074	S>F	B:860	(-81.33, 36.23, 19.23)
2:48027717		F>L	B:865	(-88.22, 30.99, 20.09)
2:48027719	rs190075874	K>T	B:866	(-89.40, 34.12, 14.41)
2:48027721		V>I	B:867	(-86.45, 29.50, 13.12)
2:48027722	rs139598980	V>G	B:867	(-86.45, 29.50, 13.12)
2:48027725	COSM4094439	M>T	B:868	(-88.15, 26.93, 16.73)
2:48027726	COSM3581881 CD105409	M>I	B:868	(-88.15, 26.93, 16.73)
2:48027727		C>R	B:869	(-92.15, 28.33, 14.08)
2:48027746		M>T	B:875	(-92.46, 18.79, 9.75)
2:48027755	rs2020912	V>A	B:878	(-94.86, 14.88, 7.05)
2:48027770		K>T	B:883	(-96.16, 5.00, 11.74)
2:48027786		K>N	B:888	(-97.02, 12.28, 16.16)
2:48027788	rs377542011	Q>P	B:889	(-95.66, 14.20, 21.50)
2:48027789	rs149945495	Q>H	B:889	(-95.66, 14.20, 21.50)
2:48027793		I>V	B:891	(-93.68, 17.94, 15.21)
2:48027795	rs146006741	I>M	B:891	(-93.68, 17.94, 15.21)
2:48027799	rs370754319	L>V	B:893	(-99.75, 22.65, 17.44)
2:48027806		T>R	B:895	(-104.62, 21.99, 17.37)
2:48027812		N>S	B:897	(-102.60, 15.60, 17.78)
2:48027817		E>K	B:899	(-100.60, 13.63, 24.19)
2:48027823		R>S	B:901	(-98.74, 17.31, 21.20)
2:48027835		L>M	B:905	(-94.86, 30.61, 19.90)
2:48027842	rs201936512	V>A	B:907	(-99.94, 35.74, 18.97)
2:48027849		L>F	B:909	(-93.39, 35.87, 18.34)
2:48027860		D>G	B:913	(-92.81, 41.72, 15.78)
2:48027866		A>D	B:915	(-93.66, 46.29, 20.45)
2:48027873		D>E	B:917	(-88.42, 49.44, 15.38)
2:48027875		H>R	B:918	(-87.57, 44.58, 15.91)
2:48027887	COSM190064 CD103558	R>Q	B:922	(-78.97, 45.79, 13.99)
2:48027892		T>S	B:924	(-79.83, 51.68, 18.41)
2:48027902		I>T	B:927	(-86.72, 54.48, 22.21)
2:48027930		D>E	B:936	(-91.23, 59.16, 30.47)
2:48027940		A>S	B:940	(-89.21, 63.10, 29.33)
2:48027947		A>D	B:942	(-84.22, 64.09, 30.44)
2:48027949	rs143520357	D>Y	B:943	(-85.53, 63.43, 26.21)
2:48027973		L>F	B:951	(-80.60, 73.28, 19.45)
2:48027977		L>P	B:952	(-78.91, 75.98, 23.65)
2:48027979		E>K	B:953	(-74.43, 74.47, 23.01)
2:48027997		R>C	B:959	(-74.10, 84.37, 21.15)
2:48027998	COSM1021285	R>H	B:959	(-74.10, 84.37, 21.15)
2:48028001	COSM1021287	N>S	B:960	(-68.91, 82.19, 19.07)
2:48028004	COSM1215571	R>T	B:961	(-70.70, 81.16, 13.77)
2:48028007		I>T	B:962	(-67.94, 87.23, 15.55)
2:48028008		I>M	B:962	(-67.94, 87.23, 15.55)
2:48028032		W>C	B:970	(-62.51, 67.73, 18.37)
2:48028042		R>G	B:974	(-66.67, 64.23, 30.82)
2:48028069	rs538761360	E>K	B:983	(-53.44, 78.58, 12.96)
2:48028071		E>D	B:983	(-53.44, 78.58, 12.96)
2:48028072	rs146359682	N>H	B:984	(-56.06, 81.59, 9.48)
2:48028081		T>A	B:987	(-53.46, 86.79, 16.24)
2:48028084	rs61753795	R>C	B:988	(-57.50, 90.29, 16.02)
2:48028088		N>S	B:989	(-58.69, 85.42, 19.44)
2:48028093		P>A	B:991	(-59.94, 87.28, 26.16)
2:48028102	rs373622047	Y>H	B:994	(-59.62, 77.05, 28.53)
2:48028114		S>T	B:998	(-53.86, 71.36, 18.90)
2:48028117		T>A	B:999	(-54.39, 70.02, 14.84)
2:48028122		K>N	B:1000	(-50.69, 71.07, 11.48)
2:48028136		R>Q	B:1005	(-60.10, 77.97, 21.46)
2:48028147		K>E	B:1009	(-68.53, 82.47, 31.10)
2:48028148		K>I	B:1009	(-68.53, 82.47, 31.10)
2:48028151		T>I	B:1010	(-71.67, 78.37, 28.73)
2:48028167		L>F	B:1015	(-71.23, 69.55, 28.67)
2:48028184	rs63750287 MMR_c.3062C>A CM020037	A>G	B:1021	(-79.35, 64.27, 31.35)
2:48028193	rs372705506 COSM1408307	R>Q	B:1024	(-81.37, 62.50, 34.42)
2:48028220		M>R	B:1033	(-83.78, 47.08, 28.82)
2:48028229		L>Q	B:1036	(-89.15, 44.91, 27.93)
2:48028233		F>L	B:1037	(-85.35, 41.99, 28.78)
2:48028235		Y>C	B:1038	(-90.65, 40.26, 34.40)
2:48028264	rs200492211 CM103554	Q>E	B:1048	(-88.11, 25.56, 28.20)
2:48028273	rs576269342	V>I	B:1051	(-86.33, 24.25, 23.67)
2:48028276		E>K	B:1052	(-88.00, 20.64, 26.16)
2:48028277		E>G	B:1052	(-88.00, 20.64, 26.16)
2:48028285		A>T	B:1055	(-84.13, 18.65, 21.52)
2:48028292		L>S	B:1057	(-86.41, 17.04, 16.14)
2:48030577	rs369042519	A>V	B:1064	(-81.52, 8.81, 11.82)
2:48030581	rs63750714 MMR_c.3195delC CD093662 CD105410	N>K	B:1065	(-77.68, 10.38, 10.10)
2:48030583	rs372103816	Y>C	B:1066	(-75.40, 5.66, 13.73)
2:48030589	rs398123230	R>Q	B:1068	(-79.68, 7.08, 6.07)
2:48030591	COSM1239478	G>R	B:1069	(-74.68, 4.41, 7.57)
2:48030595		G>D	B:1070	(-72.51, 2.94, 4.95)
2:48030601		G>V	B:1072	(-71.95, -1.38, 6.96)
2:48030606		M>V	B:1074	(-76.86, -0.81, 10.07)
2:48030613	COSM1021297	R>H	B:1076	(-86.13, -2.04, 14.32)
2:48030619	rs376452612	V>A	B:1078	(-85.85, -7.21, 18.12)
2:48030625		L>R	B:1080	(-88.26, -10.13, 23.11)
2:48030630	rs186240214	P>S	B:1082	(-88.70, -11.07, 30.22)
2:48030631	rs191109849	P>L	B:1082	(-88.70, -11.07, 30.22)
2:48030633		E>Q	B:1083	(-93.28, -13.48, 30.88)
2:48030640	COSM330655	T>S	B:1085	(-88.17, -15.29, 26.60)
2:48030642		P>A	B:1086	(-85.29, -16.87, 28.33)
2:48030649		F>C	B:1088	(-81.94, -13.44, 24.48)
2:48030667		S>L	B:1094	(-71.16, -7.38, 15.31)
2:48030669	rs376243329	R>C	B:1095	(-69.87, -2.97, 12.96)
2:48030670	rs63750253	R>H	B:1095	(-69.87, -2.97, 12.96)
2:48030673		H>R	B:1096	(-66.42, -1.07, 18.48)
2:48030699		G>R	B:1105	(-57.60, 1.66, 10.42)
2:48030705		D>N	B:1107	(-60.07, -4.43, 7.48)
2:48030720		D>N	B:1112	(-71.14, -13.73, 15.72)
2:48030730		I>T	B:1115	(-75.06, -14.43, 25.42)
2:48030736		C>F	B:1117	(-79.89, -17.82, 22.60)
2:48030738		E>K	B:1118	(-82.65, -20.66, 25.79)
2:48030748		E>G	B:1121	(-89.31, -22.83, 26.68)
2:48030749	rs377226210	E>D	B:1121	(-89.31, -22.83, 26.68)
2:48030774		V>M	B:1130	(-69.39, -16.91, 27.90)
2:48030780		V>L	B:1132	(-63.38, -15.46, 26.75)
2:48030811	rs267608089 MMR_c.3425C>T COSM1614885	T>M	B:1142	(-62.52, -5.22, 21.82)
2:48030816		M>L	B:1144	(-65.80, -7.87, 26.56)
2:48032049		A>T	B:1147	(-71.12, -5.94, 24.08)
2:48032052	rs63750257 MMR_c.3442G>C	G>S	B:1148	(-71.81, -3.09, 25.70)
2:48032053		G>A	B:1148	(-71.81, -3.09, 25.70)
2:48032060		L>F	B:1150	(-73.80, -2.99, 20.60)
2:48032062		A>G	B:1151	(-76.50, -2.81, 24.59)
2:48032068		M>T	B:1153	(-76.65, 1.68, 20.78)
2:48032075		Q>H	B:1155	(-81.77, -0.90, 25.74)
2:48032080		G>A	B:1157	(-83.43, 3.59, 19.85)
2:48032088	rs376799914	V>I	B:1160	(-77.24, -1.79, 15.71)
2:48032091		P>A	B:1161	(-73.54, -1.77, 14.30)
2:48032098	rs63750252	E>V	B:1163	(-76.14, -8.71, 9.88)
2:48032099	rs531674673	E>D	B:1163	(-76.14, -8.71, 9.88)
2:48032134	rs369583604	T>I	B:1175	(-67.75, -3.37, 33.86)
2:48032139		L>V	B:1177	(-62.66, -3.93, 31.68)
2:48032143		G>D	B:1178	(-59.34, -1.61, 33.36)
2:48032765		T>A	B:1189	(-54.53, -2.31, 42.31)
2:48032784		S>T	B:1195	(-64.15, -3.47, 45.08)
2:48032786	COSM1021303	E>Q	B:1196	(-64.78, -2.72, 40.54)
2:48032789	rs531169741	T>A	B:1197	(-66.02, -7.82, 41.61)
2:48032798		I>V	B:1200	(-71.06, -7.43, 40.08)
2:48032804	rs369778514	M>V	B:1202	(-75.10, -7.37, 46.52)
2:48032817		A>G	B:1206	(-81.06, -12.19, 35.93)
2:48032819		H>D	B:1207	(-83.00, -9.62, 34.00)
2:48032821		H>Q	B:1207	(-83.00, -9.62, 34.00)
2:48032828		V>L	B:1210	(-71.49, -9.39, 33.56)
2:48033348		G>S	B:1218	(-52.80, -7.99, 41.27)
2:48033354		A>T	B:1220	(-51.15, -14.28, 43.10)
2:48033360		F>V	B:1222	(-53.08, -19.95, 45.83)
2:48033381		N>H	B:1229	(-63.93, -21.00, 40.82)
2:48033382		N>S	B:1229	(-63.93, -21.00, 40.82)
2:48033394		K>T	B:1233	(-70.12, -21.53, 41.74)
2:48033409		T>S	B:1238	(-76.91, -18.23, 42.11)
2:48033421	rs63750119 MMR_c.3725G>T CD103561	R>H	B:1242	(-77.62, -11.46, 30.04)
2:48033435		T>A	B:1247	(-59.42, -16.36, 31.75)
2:48033438	rs63750882 MMR_c.3742C>G CM025916	H>Y	B:1248	(-54.90, -16.00, 30.61)
2:48033445		H>R	B:1250	(-56.30, -24.60, 31.27)
2:48033453	rs187491488	V>L	B:1253	(-61.28, -23.95, 31.56)
2:48033458	rs375459388	E>D	B:1254	(-59.38, -27.89, 33.86)
2:48033463		Y>S	B:1256	(-66.46, -24.17, 35.30)
2:48033468	rs63750554	Q>E	B:1258	(-69.54, -29.00, 31.04)
2:48033483	rs367912290	R>C	B:1263	(-71.00, -20.93, 25.51)
2:48033484	rs147852216	R>H	B:1263	(-71.00, -20.93, 25.51)
2:48033493		H>L	B:1266	(-61.59, -19.56, 20.85)
2:48033496	rs148445930	M>T	B:1267	(-60.45, -14.78, 20.17)
2:48033597		M>V	B:1270	(-54.14, -18.26, 10.95)
2:48033640	rs63750836	T>M	B:1284	(-51.20, -14.69, 13.26)
2:48033646		L>P	B:1286	(-58.33, -14.92, 12.43)
2:48033667		A>G	B:1293	(-60.70, -23.98, 23.29)
2:48033673		P>L	B:1295	(-55.02, -23.75, 20.29)
2:48033675	rs575714670	K>Q	B:1296	(-52.50, -23.77, 25.25)
2:48033697	rs201060668	A>G	B:1303	(-40.36, -16.68, 22.69)
2:48033700	rs34625968	R>K	B:1304	(-39.95, -20.58, 19.14)
2:48033708		N>D	B:1307	(-34.07, -14.15, 18.97)
2:48033720		E>K	B:1311	(-31.14, -23.71, 27.17)
2:48033750	rs41295278	R>G	B:1321	(-45.89, -31.11, 28.32)
2:48033754		E>V	B:1322	(-43.43, -31.21, 35.20)
2:48033759	rs540890590	E>Q	B:1324	(-50.30, -30.96, 33.60)
2:48033766		M>T	B:1326	(-49.71, -32.02, 40.56)
2:48033768		N>H	B:1327	(-53.02, -29.89, 37.82)
2:48033775	rs199594809 MMR_c.3986C>T	S>L	B:1329	(-54.82, -35.88, 39.96)
2:48033781	rs184131049	R>L	B:1331	(-59.12, -35.55, 36.23)
2:48033789	COSM1291512	R>W	B:1334	(-64.44, -37.55, 42.81)
2:48033920	rs564434147	E>A	B:1335	(-66.41, -40.99, 42.80)

2O8D.B | MSH6.

2O8D.B | MSH6

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
2:48026290	COSM13398	D>N	B:390	(-62.61, 25.53, 64.31)
2:48026606	COSM1408296	R>L	B:495	(-71.24, 60.84, 51.72)
2:48026846	COSM1408299	D>G	B:575	(-74.93, 4.39, 49.32)
2:48027163	COSM331329	L>F	B:681	(-83.93, 20.37, 52.78)
2:48027508	COSM1327059	E>K	B:796	(-88.15, 3.63, 10.57)
2:48027755	COSM4985848	V>A	B:878	(-94.86, 14.88, 7.05)
2:48027887	COSM190064	R>Q	B:922	(-78.97, 45.79, 13.99)
2:48027998	COSM1021285	R>H	B:959	(-74.10, 84.37, 21.15)
2:48028049	COSM1021289	R>H	B:976	(-69.18, 66.10, 24.41)
2:48028136	COSM5004364	R>Q	B:1005	(-60.10, 77.97, 21.46)
2:48028145	COSM26723	T>I	B:1008	(-66.11, 78.42, 31.17)
2:48028161	COSM1021291	K>N	B:1013	(-71.55, 76.10, 33.60)
2:48028268	COSM94733	S>F	B:1049	(-91.63, 23.64, 25.68)
2:48030613	COSM1021297	R>H	B:1076	(-86.13, -2.04, 14.32)
2:48030670	COSM190065	R>H	B:1095	(-69.87, -2.97, 12.96)
2:48030811	COSM1614885	T>M	B:1142	(-62.52, -5.22, 21.82)
2:48032098	COSM4416035	E>V	B:1163	(-76.14, -8.71, 9.88)
2:48032766	COSM1668900	T>I	B:1189	(-54.53, -2.31, 42.31)
2:48033352	COSM13892	T>I	B:1219	(-52.61, -11.38, 42.55)
2:48033789	COSM1291512	R>W	B:1334	(-64.44, -37.55, 42.81)