3MTR.A | NCAM1

General Structure Information

PDB ID	3mtr
HGNC Gene Label(s)	NCAM1
Structure Name	crystal structure of the ig5-fn1 tandem of human ncam
Resolution	1.8Å
Reference	AUTH D.A.FOLEY,K.G.SWARTZENTRUBER,A.LAVIE,K.J.COLLEYTITL STRUCTURE AND MUTAGENESIS OF NEURAL CELL ADHESION MOLECULETITL 2 DOMAINS: EVIDENCE FOR FLEXIBILITY IN THE PLACEMENT OFTITL 3 POLYSIALIC ACID ATTACHMENT SITESREF J.BIOL.CHEM. V. 285 27360 2010REFN ISSN 0021-9258PMID 20573953DOI 10.1074/JBC.M110.140038

Variant Set Distributions

ExAC Variants

Number Of Residues	194
Number Of SNVs	33
Number Of Permutations	9649
Optimal Distance Threshold	27.0
K Statistic	0.447
p-value	0.885

COSMIC

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	33
Number Of COSMIC SNVs	5
Optimal Distance Threshold	18.0
K Statistic	-0.226
p-value	0.943

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:113102517		Y>H	A:404	(18.06, 51.54, -12.92)
11:113102960		E>K	A:427	(18.18, 38.70, -7.15)
11:113102963		V>L	A:428	(16.49, 41.86, -11.41)
11:113102972		Y>D	A:431	(12.63, 52.14, -14.97)
11:113102981		A>P	A:434	(14.62, 43.56, -17.94)
11:113102985		T>M	A:435	(15.25, 40.95, -20.97)
11:113102987		I>V	A:436	(16.52, 37.86, -18.09)
11:113102999	COSM262316 COSM262317 COSM276264	R>W	A:440	(27.61, 26.51, -20.03)
11:113103000	COSM343940 COSM343941 COSM343942	R>Q	A:440	(27.61, 26.51, -20.03)
11:113103012		L>P	A:444	(20.69, 31.31, -25.47)
11:113103039		I>S	A:453	(17.88, 23.75, -18.43)
11:113103051		N>T	A:457	(10.85, 34.00, -15.28)
11:113103052		N>K	A:457	(10.85, 34.00, -15.28)
11:113103455		E>Q	A:471	(31.35, 15.80, -14.48)
11:113103461	COSM3443459 COSM3443460 COSM3443461	D>N	A:473	(26.09, 19.59, -16.81)
11:113103489		V>A	A:482	(19.06, 43.79, -21.36)
11:113103494		R>C	A:484	(15.86, 52.89, -22.82)
11:113103495	COSM1351312 COSM1351311 COSM1351313	R>H	A:484	(15.86, 52.89, -22.82)
11:113103513		L>S	A:490	(25.92, 37.41, -12.38)
11:113103872		T>N	A:499	(29.98, 12.87, 0.18)
11:113103901		E>K	A:509	(29.77, 6.39, 28.15)
11:113103907		Y>H	A:511	(22.94, 2.94, 30.65)
11:113103917		T>I	A:514	(22.87, 0.76, 25.58)
11:113103920		A>V	A:515	(25.60, 3.14, 23.78)
11:113103987		W>C	A:537	(26.23, -1.74, 16.15)
11:113104007		V>A	A:544	(28.79, -8.92, 10.94)
11:113105772	COSM428427 COSM428428 COSM428429 COSM1133928	V>I	A:561	(24.10, 8.28, 18.41)
11:113105781		V>M	A:564	(20.78, -0.77, 20.61)
11:113105796		E>K	A:569	(30.93, -8.00, 29.04)
11:113105803		T>M	A:571	(34.59, -5.42, 23.39)
11:113105808		A>T	A:573	(33.24, -1.49, 17.51)
11:113105811	COSM686352 COSM686353 COSM686354 COSM1146575	V>I	A:574	(31.57, 2.23, 16.98)
11:113105821		A>V	A:577	(28.32, 7.99, 8.87)
11:113105856	COSM1351321 COSM1351320 COSM1351322 COSM1351323	A>T	A:589	(37.15, 5.15, 12.75)
11:113105865		E>K	A:592	(37.56, -0.52, 20.85)
11:113105881		P>L	A:597	(28.48, -5.79, 34.04)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:113102999	COSM276264	R>W	A:440	(27.61, 26.51, -20.03)
11:113103441	COSM3666093	V>A	A:466	(20.08, 22.80, -13.44)
11:113103504	COSM1506508	Q>R	A:487	(24.43, 44.58, -20.89)
11:113105824	COSM4017881	A>V	A:578	(27.21, 10.91, 6.91)
11:113105875	COSM4823259	T>M	A:595	(29.67, -3.48, 27.79)

3MTR.A | NCAM1.

3MTR.A | NCAM1

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