3DEM.A | MASP1

General Structure Information

PDB ID	3dem
HGNC Gene Label(s)	MASP1
Structure Name	cub1-egf-cub2 domain of human masp-1/3
Resolution	2.3Å
Reference	AUTH F.TEILLET,C.GABORIAUD,M.LACROIX,L.MARTIN,G.J.ARLAUD,AUTH 2 N.M.THIELENSTITL CRYSTAL STRUCTURE OF THE CUB1-EGF-CUB2 DOMAIN OF HUMANTITL 2 MASP-1/3 AND IDENTIFICATION OF ITS INTERACTION SITES WITHTITL 3 MANNAN-BINDING LECTIN AND FICOLINSREF J.BIOL.CHEM. V. 283 25715 2008REFN ISSN 0021-9258PMID 18596036DOI 10.1074/JBC.M803551200

Variant Set Distributions

ExAC Variants

Number Of Residues	267
Number Of SNVs	70
Number Of Permutations	25907
Optimal Distance Threshold	7.0
K Statistic	0.02
p-value	0.278

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
3:187003773	rs558383610	N>S	A:7	(-26.26, 3.77, 38.27)
3:187003774		N>D	A:7	(-26.26, 3.77, 38.27)
3:187003768	rs374218929	F>L	A:9	(-23.41, -1.05, 36.68)
3:187003758		I>T	A:12	(-22.42, 3.69, 26.76)
3:187003747	rs377441732	G>C	A:16	(-24.92, 0.71, 15.65)
3:187003723		D>N	A:24	(-27.24, 14.10, 11.61)
3:187003693		P>S	A:34	(-24.49, 8.50, 44.63)
3:187003680	rs374666161	R>Q	A:38	(-15.12, 10.99, 42.41)
3:187003681	COSM1042434 COSM1593519 COSM1042433	R>W	A:38	(-15.12, 10.99, 42.41)
3:187003666		F>L	A:43	(-13.68, 4.36, 26.02)
3:187003652		N>K	A:47	(-13.50, 3.75, 14.96)
3:187003653		N>S	A:47	(-13.50, 3.75, 14.96)
3:187003629		E>G	A:55	(-14.17, 20.38, 14.16)
3:186980508	rs142827077	V>L	A:61	(-16.46, 13.82, 28.64)
3:186980499	COSM730025 COSM1149702 COSM730024	E>K	A:64	(-22.12, 20.42, 35.74)
3:186980496		D>N	A:65	(-18.90, 23.37, 35.23)
3:186980493		Q>E	A:66	(-15.26, 20.83, 33.95)
3:186980467		R>S	A:74	(-8.39, 5.69, 12.88)
3:186980464		E>D	A:75	(-8.16, 2.34, 18.55)
3:186980462		T>I	A:76	(-5.35, 1.86, 14.76)
3:186980459		T>K	A:77	(-3.91, 5.58, 13.81)
3:186980444		T>I	A:82	(-7.73, 8.22, 21.01)
3:186980439	rs199628370	G>S	A:84	(-7.49, 4.33, 25.13)
3:186980426		V>A	A:88	(-12.34, 9.64, 32.36)
3:186980406		M>V	A:95	(-20.10, 11.98, 33.60)
3:186980400		I>F	A:97	(-21.32, 11.19, 27.61)
3:186980397		T>A	A:98	(-21.98, 13.94, 23.68)
3:186980390	rs141761989	R>Q	A:100	(-21.27, 15.76, 16.03)
3:186980391	COSM1421589 COSM1421590 COSM1421588	R>W	A:100	(-21.27, 15.76, 16.03)
3:186980370		E>K	A:107	(-14.21, 7.10, 6.07)
3:186980366	rs367766973 COSM1421586 COSM1421587 COSM1421585	R>H	A:108	(-19.38, 4.06, 7.09)
3:186980367	rs115647447	R>C	A:108	(-19.38, 4.06, 7.09)
3:186980348	COSM3591085 COSM3591086 COSM3591084	A>D	A:114	(-18.32, 2.33, 27.06)
3:186980345	COSM730031 COSM1149699 COSM730030	H>R	A:115	(-17.67, -0.01, 29.80)
3:186980339	rs200556780	M>T	A:117	(-17.50, 2.45, 37.48)
3:186978652		E>K	A:123	(-13.87, 11.64, 51.99)
3:186978618	rs145619289	C>Y	A:134	(-10.87, 15.14, 60.98)
3:186978594		I>T	A:142	(-18.39, 2.46, 50.51)
3:186978589	rs115241263	G>S	A:144	(-18.31, 8.00, 53.19)
3:186978585	rs535846193	Y>C	A:145	(-16.45, 11.58, 56.12)
3:186978570	COSM1042422 COSM1593524 COSM1042421	R>H	A:150	(-5.93, 11.50, 70.12)
3:186978565	rs555093112 COSM4115980 COSM4115981 COSM4115979	G>S	A:152	(-9.51, 10.63, 76.10)
3:186978555		L>P	A:155	(-16.54, 13.38, 68.81)
3:186978542	rs372330604	N>K	A:159	(-19.58, 15.09, 64.23)
3:186978531		R>Q	A:163	(-14.97, 17.18, 74.65)
3:186974643		C>R	A:166	(-11.27, 19.62, 82.10)
3:186974621		Q>R	A:173	(-2.84, 20.97, 98.60)
3:186974604		T>A	A:179	(-2.18, 22.93, 83.45)
3:186974584	rs553088802	N>K	A:185	(1.46, 19.19, 74.39)
3:186974576		P>R	A:188	(-7.78, 20.34, 73.98)
3:186974565	COSM1257365 COSM1257366 COSM1257364	E>K	A:192	(-16.18, 24.27, 79.15)
3:186974556		Y>H	A:195	(-9.02, 24.31, 85.87)
3:186974529		M>V	A:204	(-5.13, 35.47, 100.66)
3:186974522	rs145045341	N>S	A:206	(-1.27, 34.44, 95.60)
3:186974509		E>D	A:210	(4.96, 28.99, 85.63)
3:186974511		E>K	A:210	(4.96, 28.99, 85.63)
3:186974487		H>N	A:218	(-7.72, 39.03, 66.52)
3:186974477	COSM1421579 COSM1421580 COSM1421578	V>A	A:221	(-10.71, 41.26, 68.77)
3:186974474	rs375399118	P>L	A:222	(-10.83, 41.19, 72.54)
3:186974465	rs28945071	Y>C	A:225	(-10.64, 33.20, 68.20)
3:186974453		K>T	A:229	(-13.06, 33.94, 82.11)
3:186971093		G>A	A:233	(-15.68, 36.63, 93.90)
3:186971071	rs149204798	F>L	A:240	(-6.60, 36.81, 80.84)
3:186971064		E>K	A:243	(2.31, 35.38, 72.54)
3:186971046		I>L	A:249	(-3.29, 37.44, 90.27)
3:186971037	rs376724149	Q>E	A:252	(-7.52, 39.41, 99.18)
3:186971017		I>M	A:258	(-9.46, 28.91, 86.64)
3:186971016		L>V	A:259	(-13.03, 29.48, 82.49)
3:186971000		N>S	A:264	(-13.33, 24.90, 66.16)
3:186970997		S>L	A:265	(-9.27, 26.11, 65.81)
3:186970990		E>D	A:267	(-2.77, 23.13, 67.17)
3:186970988		N>S	A:268	(-2.30, 27.12, 70.48)
3:186970986		R>W	A:269	(2.92, 24.53, 73.34)
3:186970968		Y>H	A:275	(-2.12, 27.07, 94.24)
3:186970964	rs73886128	R>K	A:276	(2.21, 29.95, 95.77)
3:186970958		A>V	A:278	(-1.51, 33.35, 102.47)

3DEM.A | MASP1.

3DEM.A | MASP1

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
3:187003681	COSM1042434	R>W	A:38	(-15.12, 10.99, 42.41)
3:186980367	COSM1042424	R>C	A:108	(-19.38, 4.06, 7.09)
3:186974483	COSM1753083	P>L	A:219	(-4.98, 41.30, 66.17)