4IM6.A | NLRP1

General Structure Information

PDB ID	4im6
HGNC Gene Label(s)	NLRP1
Structure Name	lrr domain from human nlrp1
Resolution	1.65Å
Reference

Variant Set Distributions

ExAC Variants

Number Of Residues	197
Number Of SNVs	48
Number Of Permutations	7201
Optimal Distance Threshold	12.0
K Statistic	0.098
p-value	0.001

COSMIC

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:5456860		V>L	A:792	(-13.59, -38.99, -8.59)
17:5456827	rs143323772	V>I	A:803	(-2.22, -50.82, -8.96)
17:5456820		K>R	A:805	(-0.46, -53.01, -3.23)
17:5456806	rs371730973	L>V	A:810	(6.16, -44.67, -8.37)
17:5456772		S>T	A:821	(-12.44, -38.98, 0.30)
17:5456766	rs200269854	S>F	A:823	(-11.76, -42.72, 2.61)
17:5456761		V>M	A:825	(-6.92, -39.55, 2.47)
17:5456756	rs201210992	K>N	A:826	(-7.81, -42.34, 6.02)
17:5456733		R>H	A:834	(2.59, -49.91, 1.88)
17:5456734	rs200045571	R>C	A:834	(2.59, -49.91, 1.88)
17:5456727	rs201879763	R>H	A:836	(7.99, -52.77, -0.96)
17:5456724	rs200457047	C>Y	A:837	(7.09, -46.21, -0.60)
17:5456706	rs201380144	R>Q	A:843	(2.55, -33.01, -7.34)
17:5456707	rs199682508	R>W	A:843	(2.55, -33.01, -7.34)
17:5445304	rs200459692	A>P	A:858	(1.43, -36.19, 9.10)
17:5445300		F>Y	A:859	(0.72, -41.15, 11.41)
17:5445271	rs146505967	E>K	A:869	(7.81, -32.08, -3.81)
17:5445259		S>G	A:873	(-2.19, -26.33, -3.17)
17:5445256		F>V	A:874	(-5.27, -24.30, -5.09)
17:5445252	rs202218652	N>S	A:875	(-6.65, -27.80, -0.60)
17:5445253		N>D	A:875	(-6.65, -27.80, -0.60)
17:5445243	rs11657747	T>M	A:878	(-7.28, -24.18, 7.69)
17:5445238		A>T	A:880	(-5.64, -26.30, 11.65)
17:5445228	rs139685583	K>R	A:883	(-1.17, -26.53, 14.19)
17:5445223		L>F	A:885	(1.37, -30.10, 8.33)
17:5445201		P>L	A:892	(14.53, -33.96, 13.69)
17:5445197		S>R	A:893	(13.09, -36.93, 11.11)
17:5445190		L>V	A:896	(9.81, -32.37, 3.07)
17:5445183	rs149831544	R>Q	A:898	(10.82, -29.73, -2.62)
17:5442901		V>F	A:902	(-0.94, -22.05, -2.87)
17:5442885		T>M	A:907	(-4.22, -16.80, 8.65)
17:5442876		C>Y	A:910	(-0.15, -20.17, 10.79)
17:5442862	rs148522172	A>T	A:915	(8.33, -20.24, 12.22)
17:5442849		S>N	A:919	(13.70, -22.63, 13.05)
17:5442850		S>R	A:919	(13.70, -22.63, 13.05)
17:5442802	rs200875871	D>N	A:935	(-1.04, -9.85, 7.82)
17:5442795	rs201740824	V>A	A:937	(1.05, -10.00, 12.09)
17:5442796	COSM179181 COSM3194335 COSM3194334	V>I	A:937	(1.05, -10.00, 12.09)
17:5442786		R>Q	A:940	(6.35, -8.04, 11.07)
17:5442763	rs200723981	H>Y	A:948	(17.48, -19.60, 13.26)
17:5442760		P>T	A:949	(20.99, -19.16, 11.70)
17:5442753	COSM4130426 COSM4130425 COSM4130424	C>Y	A:951	(16.97, -21.56, 8.07)
17:5442745		I>V	A:954	(16.53, -21.41, -0.74)
17:5442738		L>P	A:956	(9.32, -17.57, 0.56)
17:5442736	rs377182366	G>R	A:957	(6.25, -17.67, -1.28)
17:5440246		T>I	A:962	(-1.44, -6.13, 0.97)
17:5440234		E>G	A:966	(6.72, -0.09, 7.17)
17:5440231		M>K	A:967	(6.90, -5.82, 6.29)
17:5440232		M>L	A:967	(6.90, -5.82, 6.29)
17:5440213		A>V	A:973	(16.58, -6.53, 4.80)
17:5440205		Q>E	A:976	(20.48, -7.41, 1.33)
17:5440198		K>R	A:978	(19.31, -14.79, 4.62)
17:5440171	rs539953884	R>Q	A:987	(2.24, -8.56, -8.67)
17:5440172	rs199748129 COSM179180	R>W	A:987	(2.24, -8.56, -8.67)
17:5437306		K>R	A:988	(9.03, -10.51, -6.99)
17:5437307		K>Q	A:988	(9.03, -10.51, -6.99)

4IM6.A | NLRP1.

4IM6.A | NLRP1

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
17:5445207	COSM21805	R>K	A:890	(7.96, -28.67, 14.61)
17:5445208	COSM1384765	R>G	A:890	(7.96, -28.67, 14.61)
17:5442796	COSM179181	V>I	A:937	(1.05, -10.00, 12.09)