4C6F.A | CAD – ASTRID

4C6F.A | CAD

General Structure Information

PDB ID	4c6f
HGNC Gene Label(s)	CAD
Structure Name	crystal structure of the dihydroorotase domain of human cad bound to substrate at ph 6.5
Resolution	1.26Å
Reference	AUTH A.GRANDE-GARCIA,N.LALLOUS,C.DIAZ-TEJADA,S.RAMON-MAIQUESTITL STRUCTURE, FUNCTIONAL CHARACTERIZATION AND EVOLUTION OF THETITL 2 DIHYDROOROTASE DOMAIN OF HUMAN CAD.REF STRUCTURE V. 22 185 2014REFN ISSN 0969-2126PMID 24332717DOI 10.1016/J.STR.2013.10.016

Variant Set Distributions

ExAC Variants

Number Of Residues	363
Number Of SNVs	117
Number Of Permutations	46837
Optimal Distance Threshold	14.0
K Statistic	0.122
p-value	0.16

COSMIC

Number Of Residues	363
Number Of SNVs	4
Number Of Permutations	470
Optimal Distance Threshold	24.0
K Statistic	0.167
p-value	0.682

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	117
Number Of COSMIC SNVs	4
Optimal Distance Threshold	28.0
K Statistic	-0.424
p-value	0.325

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:27459690		R>Q	A:1463	(-5.83, -32.99, -27.41)
2:27459696		P>L	A:1465	(-6.27, -28.25, -22.31)
2:27460253		I>T	A:1468	(-9.71, -25.54, -14.32)
2:27460267		H>Y	A:1473	(-22.85, -21.83, -6.92)
2:27460273	rs552118471	R>W	A:1475	(-27.06, -24.34, -5.59)
2:27460274		R>Q	A:1475	(-27.06, -24.34, -5.59)
2:27460276	COSM3991246	E>K	A:1476	(-25.31, -31.38, -2.95)
2:27460302		D>E	A:1484	(-27.09, -32.43, -7.59)
2:27460307		A>V	A:1486	(-24.58, -35.71, -10.20)
2:27460321	rs138928198	A>T	A:1491	(-23.39, -29.64, -16.65)
2:27460331	rs368079051	A>V	A:1494	(-21.42, -31.05, -21.28)
2:27460336		G>C	A:1496	(-15.80, -29.05, -21.41)
2:27460345		M>V	A:1499	(-10.74, -29.52, -12.30)
2:27460348	rs139263367	V>M	A:1500	(-15.80, -28.04, -10.85)
2:27460349		V>A	A:1500	(-15.80, -28.04, -10.85)
2:27460352		C>S	A:1501	(-13.85, -24.74, -7.74)
2:27460355		A>V	A:1502	(-17.65, -25.93, -5.30)
2:27460369	rs149558703	R>W	A:1507	(-30.15, -23.92, 2.12)
2:27460370	rs368492472 COSM1185858	R>Q	A:1507	(-30.15, -23.92, 2.12)
2:27460372		P>A	A:1508	(-25.47, -27.32, 5.85)
2:27460373		P>H	A:1508	(-25.47, -27.32, 5.85)
2:27460387	rs553621458	A>T	A:1513	(-14.88, -28.98, 10.02)
2:27460393		A>S	A:1515	(-19.99, -28.76, 6.99)
2:27460399		A>T	A:1517	(-16.72, -33.51, 6.28)
2:27460601		A>T	A:1527	(-18.76, -35.81, -8.47)
2:27460602	COSM442740	A>D	A:1527	(-18.76, -35.81, -8.47)
2:27460610		D>N	A:1530	(-12.19, -33.87, -10.88)
2:27460615		F>L	A:1531	(-14.25, -32.42, -6.33)
2:27460617	rs200103144	A>V	A:1532	(-12.06, -28.31, -5.22)
2:27460626		L>P	A:1535	(-13.78, -23.67, 3.89)
2:27460638		S>F	A:1539	(-19.63, -13.83, 11.66)
2:27460653	rs373079827	T>N	A:1544	(-12.14, -21.57, 13.73)
2:27460658		G>S	A:1546	(-6.74, -24.04, 10.30)
2:27460664	COSM1599981	V>M	A:1548	(-10.17, -27.98, 7.81)
2:27460670	rs375024545	G>R	A:1550	(-5.61, -26.96, 3.21)
2:27460701		N>S	A:1560	(-21.71, -7.30, -1.47)
2:27460709		F>I	A:1563	(-28.62, -17.62, -2.74)
2:27460713		S>F	A:1564	(-26.79, -15.48, 3.32)
2:27460721	COSM216581	R>W	A:1567	(-23.29, -9.05, 3.54)
2:27460722	rs144634871	R>Q	A:1567	(-23.29, -9.05, 3.54)
2:27460730		S>G	A:1570	(-17.39, -5.46, 10.17)
2:27460733		V>M	A:1571	(-14.06, -3.83, 7.00)
2:27460736		V>I	A:1572	(-12.84, -5.38, 12.03)
2:27460745		M>L	A:1575	(-9.37, -6.49, 9.06)
2:27460929		F>L	A:1578	(-7.65, -11.14, 4.29)
2:27460933		T>A	A:1580	(-6.85, -15.78, 11.02)
2:27460939		P>S	A:1582	(-3.88, -20.43, 6.21)
2:27460955	rs370372528	I>T	A:1587	(-8.49, -15.08, 0.57)
2:27460961		A>V	A:1589	(-13.87, -11.86, -2.81)
2:27460967	rs150612806	A>V	A:1591	(-16.21, -7.73, -4.15)
2:27460996		M>L	A:1601	(-6.63, -1.18, 1.94)
2:27461017		R>C	A:1608	(-3.16, -12.73, 1.48)
2:27461028		H>Q	A:1611	(-9.44, -14.16, -7.31)
2:27461029		I>V	A:1612	(-11.79, -9.56, -7.01)
2:27461032		C>G	A:1613	(-15.26, -12.99, -7.78)
2:27461041	COSM4093513	A>S	A:1616	(-19.32, -6.98, -13.74)
2:27461044	COSM3580567	R>W	A:1617	(-20.14, -3.26, -11.91)
2:27461045	rs557875449	R>Q	A:1617	(-20.14, -3.26, -11.91)
2:27461051	rs200870993	E>G	A:1619	(-16.25, 0.93, -11.29)
2:27461327	rs375486999	R>Q	A:1630	(1.16, 1.56, -7.41)
2:27461338	rs201394008	V>M	A:1634	(-5.23, -8.05, -7.61)
2:27461360		H>P	A:1641	(-23.23, -13.80, -16.82)
2:27461368	rs144692793	F>L	A:1644	(-20.92, -13.12, -24.24)
2:27461375		S>N	A:1646	(-26.35, -6.08, -21.55)
2:27461378		H>R	A:1647	(-28.31, -2.69, -18.70)
2:27461381		D>G	A:1648	(-29.53, -4.20, -24.18)
2:27461389	rs201600315	E>Q	A:1651	(-36.48, -6.39, -22.25)
2:27461392	rs200577574	R>C	A:1652	(-34.13, -11.90, -24.01)
2:27461393	COSM4093514	R>H	A:1652	(-34.13, -11.90, -24.01)
2:27461396		L>R	A:1653	(-33.54, -12.07, -19.71)
2:27461398		G>R	A:1654	(-37.21, -9.96, -17.74)
2:27461404	rs375291650	G>R	A:1656	(-36.84, -12.27, -12.76)
2:27461417		V>A	A:1660	(-27.40, -11.70, -11.96)
2:27461419		R>W	A:1661	(-27.31, -9.72, -7.45)
2:27461420		R>Q	A:1661	(-27.31, -9.72, -7.45)
2:27461435		S>Y	A:1666	(-23.90, -0.85, -19.23)
2:27461437		R>C	A:1667	(-23.27, -1.42, -23.34)
2:27461438	rs369078932	R>H	A:1667	(-23.27, -1.42, -23.34)
2:27461441		Q>R	A:1668	(-21.12, 1.74, -22.12)
2:27461443	rs140565850	D>N	A:1669	(-20.08, -2.09, -18.26)
2:27461446	rs377126982	V>M	A:1670	(-20.26, -5.58, -21.93)
2:27461449		E>K	A:1671	(-17.09, -1.68, -24.49)
2:27461452	rs369531964	A>T	A:1672	(-14.99, -2.00, -20.49)
2:27461455		L>V	A:1673	(-15.50, -6.39, -18.75)
2:27461461		E>K	A:1675	(-10.86, -2.50, -24.15)
2:27461489		A>V	A:1684	(-15.46, -18.26, -14.07)
2:27461498		H>R	A:1687	(-23.50, -23.16, -12.73)
2:27461929		E>D	A:1694	(-37.13, -20.67, -7.77)
2:27461939		S>A	A:1698	(-42.63, -13.73, -5.58)
2:27461940		S>F	A:1698	(-42.63, -13.73, -5.58)
2:27461945		P>S	A:1700	(-36.84, -13.21, -7.88)
2:27461949		P>L	A:1701	(-33.60, -16.59, -6.70)
2:27461981		P>S	A:1712	(-20.31, -23.05, -26.12)
2:27461987	rs373956328	L>F	A:1714	(-15.78, -17.89, -24.08)
2:27461994	rs371174240	T>M	A:1716	(-18.83, -17.74, -30.80)
2:27462005		E>K	A:1720	(-16.34, -13.61, -33.95)
2:27462012	rs183562830	R>Q	A:1722	(-15.37, -10.60, -29.45)
2:27462018	rs138370362	S>N	A:1724	(-6.71, -15.71, -28.93)
2:27462026		D>N	A:1727	(-6.48, -15.35, -25.02)
2:27462038		R>G	A:1731	(-7.85, -15.37, -19.92)
2:27462039	COSM1631951	R>Q	A:1731	(-7.85, -15.37, -19.92)
2:27462056		R>W	A:1737	(-3.04, -25.92, -14.35)
2:27462059	rs142918238	R>C	A:1738	(-0.84, -18.52, -12.31)
2:27462062		I>V	A:1739	(-4.83, -17.83, -9.48)
2:27462071		L>V	A:1742	(-6.39, -26.18, -8.97)
2:27462078		P>L	A:1744	(-1.66, -31.43, -13.24)
2:27462199		V>M	A:1752	(-13.64, -28.31, -29.25)
2:27462219	COSM1019602	W>C	A:1758	(-25.19, -24.48, -30.76)
2:27462235		M>V	A:1764	(-28.21, -26.37, -22.19)
2:27462238		P>S	A:1765	(-28.98, -30.84, -22.19)
2:27462250		A>T	A:1769	(-31.76, -24.91, -13.78)
2:27462271		G>W	A:1776	(-31.49, -17.73, -28.79)
2:27462277		K>E	A:1778	(-27.76, -16.93, -34.23)
2:27462292		V>I	A:1783	(-18.01, -29.82, -26.06)
2:27462293		V>A	A:1783	(-18.01, -29.82, -26.06)
2:27462298	rs142542750	R>C	A:1785	(-13.73, -37.60, -27.25)
2:27462299		R>H	A:1785	(-13.73, -37.60, -27.25)
2:27462325		Y>H	A:1794	(-19.91, -35.14, -23.27)
2:27462326		Y>C	A:1794	(-19.91, -35.14, -23.27)
2:27462332		D>G	A:1796	(-21.90, -35.96, -29.01)
2:27462337	rs138840581	Q>K	A:1798	(-24.14, -39.89, -23.28)
2:27462574		P>S	A:1802	(-20.21, -43.11, -13.21)
2:27462578	rs199692135	P>L	A:1803	(-22.85, -40.65, -10.47)
2:27462580		G>S	A:1804	(-18.51, -40.60, -8.26)
2:27462583	rs375827873	Y>H	A:1805	(-14.68, -41.05, -12.84)
2:27462598		R>W	A:1810	(-6.65, -28.76, -2.84)
2:27462599	rs139332887	R>Q	A:1810	(-6.65, -28.76, -2.84)
2:27462607		P>T	A:1813	(-0.19, -36.51, -4.00)
2:27462608		P>L	A:1813	(-0.19, -36.51, -4.00)
2:27462612		Q>H	A:1814	(-0.58, -34.07, -7.75)
2:27462614	rs147034758	G>V	A:1815	(-2.86, -31.00, -5.05)
2:27462616		A>T	A:1816	(-1.11, -30.10, -1.88)
2:27462622		P>S	A:1818	(3.01, -25.53, -2.48)
2:27462634		P>S	A:1822	(6.68, -25.90, 10.92)

4C6F.A | CAD.

4C6F.A | CAD

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