2B0O.E | ASAP3

General Structure Information

PDB ID	2b0o
HGNC Gene Label(s)	ASAP3
Structure Name	crystal structure of uplc1 gap domain
Resolution	2.06Å
Reference	AUTH S.ISMAIL,L.SHEN,C.ARROWSMITH,A.EDWARDS,M.SUNDSTROM,AUTH 2 J.WEIGELT,A.BOCHKAREV,H.PARKTITL STRUCTURAL ANALYSIS OF GAP AND ANKYRIN DOMAINS OFTITL 2 UPLC1REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	264
Number Of SNVs	86
Number Of Permutations	40356
Optimal Distance Threshold	6.0
K Statistic	0.022
p-value	0.843

COSMIC

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	86
Number Of COSMIC SNVs	3
Optimal Distance Threshold	27.0
K Statistic	0.436
p-value	0.508

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:23763683		L>F	E:428	(-32.18, 9.89, 28.21)
1:23763680		I>L	E:429	(-36.24, 8.62, 31.24)
1:23763676	rs146159261	A>V	E:430	(-37.75, 6.90, 27.37)
1:23763671		V>M	E:432	(-34.26, 3.61, 30.13)
1:23763666	rs370693470	K>N	E:433	(-39.05, 3.56, 30.64)
1:23763535	rs535978345 COSM3485702	P>S	E:449	(-40.78, -0.48, 36.15)
1:23763492	rs547079352	Q>R	E:463	(-43.19, -3.73, 46.74)
1:23763486		S>L	E:465	(-37.25, -0.27, 45.86)
1:23763480		V>A	E:467	(-35.56, -4.47, 49.43)
1:23763481		V>F	E:467	(-35.56, -4.47, 49.43)
1:23763475		R>C	E:469	(-33.90, 2.15, 49.70)
1:23763469		L>V	E:471	(-29.44, -4.13, 50.39)
1:23763460	rs373421354	R>C	E:474	(-21.60, -0.82, 50.82)
1:23763448		M>V	E:478	(-32.92, 3.02, 44.31)
1:23763426		L>Q	E:485	(-33.10, 15.35, 40.18)
1:23763420		G>D	E:487	(-29.41, 12.68, 34.79)
1:23763146		L>Q	E:493	(-25.15, 1.79, 33.70)
1:23763144		A>T	E:494	(-29.58, 2.27, 32.20)
1:23763139	rs148723559	L>F	E:495	(-29.02, 4.02, 28.60)
1:23763137		N>S	E:496	(-25.91, 0.71, 28.26)
1:23763135		M>V	E:497	(-27.74, -3.17, 31.61)
1:23763125		T>M	E:500	(-33.14, -8.93, 29.81)
1:23763121		S>R	E:501	(-29.14, -8.04, 30.10)
1:23763116		N>S	E:503	(-31.98, -11.00, 34.82)
1:23763107		M>T	E:506	(-27.79, -11.97, 38.19)
1:23763096		L>V	E:510	(-33.81, -19.29, 37.90)
1:23763090		S>T	E:512	(-38.98, -22.39, 33.82)
1:23763080		G>A	E:515	(-39.31, -20.63, 41.51)
1:23763077	rs140530758 COSM110341	P>R	E:516	(-37.44, -18.30, 43.65)
1:23763075	rs201865670	K>E	E:517	(-38.61, -14.26, 40.25)
1:23763058		S>R	E:522	(-45.30, -11.36, 46.71)
1:23763056		D>V	E:523	(-44.48, -11.94, 51.10)
1:23762519	rs202004624	G>A	E:525	(-40.23, -11.92, 52.77)
1:23762514	rs371915285	R>C	E:527	(-40.92, -8.94, 47.63)
1:23762507		D>G	E:529	(-35.64, -13.86, 51.34)
1:23762496		A>S	E:533	(-29.97, -13.92, 47.05)
1:23762469	COSM2048481	R>C	E:542	(-24.12, -17.21, 33.69)
1:23762465	rs148195646	R>Q	E:543	(-21.03, -21.04, 39.46)
1:23762466	COSM2048480	R>W	E:543	(-21.03, -21.04, 39.46)
1:23762463		C>G	E:544	(-17.67, -18.04, 36.06)
1:23762454		E>K	E:547	(-10.31, -16.55, 34.05)
1:23762444		R>Q	E:550	(-12.93, -15.53, 31.74)
1:23762436		T>S	E:553	(-10.71, -10.11, 26.64)
1:23762432		A>V	E:554	(-13.91, -8.06, 28.28)
1:23762428	rs144216953	I>M	E:555	(-12.10, -4.79, 29.71)
1:23762415		L>F	E:560	(-21.18, -4.56, 30.50)
1:23762408		S>L	E:562	(-18.57, -10.39, 30.94)
1:23762397		A>T	E:566	(-17.24, -11.37, 37.15)
1:23762390		A>V	E:568	(-21.39, -12.47, 39.94)
1:23762376		F>L	E:573	(-13.20, -5.78, 39.82)
1:23762366		P>L	E:576	(-3.76, -7.76, 39.52)
1:23762367		P>S	E:576	(-3.76, -7.76, 39.52)
1:23761110		A>V	E:584	(4.55, -6.46, 32.89)
1:23761108	rs146392307	P>S	E:585	(2.29, -4.53, 31.81)
1:23761096	rs150324380	V>I	E:589	(-9.56, -3.89, 36.37)
1:23761081		V>L	E:594	(-9.42, 4.09, 31.95)
1:23761077	rs188720319	K>T	E:595	(-5.15, 2.28, 28.73)
1:23761071		A>V	E:597	(-11.61, 4.00, 26.72)
1:23761072		A>T	E:597	(-11.61, 4.00, 26.72)
1:23761067		N>K	E:598	(-14.55, 4.05, 23.83)
1:23761060		S>A	E:601	(-16.57, 1.89, 27.23)
1:23761056		L>P	E:602	(-17.94, 5.29, 29.31)
1:23761053	rs146999625	P>R	E:603	(-20.63, 1.94, 30.53)
1:23761029		N>S	E:611	(-20.01, -1.99, 41.64)
1:23761026	rs201997487	G>A	E:612	(-15.74, -2.12, 43.04)
1:23760851		D>V	E:616	(-8.16, 4.45, 46.03)
1:23760839		A>V	E:620	(3.90, 0.14, 40.88)
1:23760836	rs142199725	D>V	E:621	(3.74, 3.67, 38.77)
1:23760829		N>K	E:623	(-0.24, 5.81, 38.49)
1:23760816		Y>H	E:628	(-3.54, 4.89, 33.82)
1:23760813		A>T	E:629	(-7.22, 9.59, 32.78)
1:23760807		L>F	E:631	(-1.55, 9.21, 30.74)
1:23760803		Y>S	E:632	(-3.59, 6.64, 28.70)
1:23760798		Q>K	E:634	(-9.90, 9.07, 28.82)
1:23760791		D>G	E:636	(-15.81, 11.26, 29.85)
1:23760792	rs113419927	D>N	E:636	(-15.81, 11.26, 29.85)
1:23760789		C>R	E:637	(-13.25, 8.51, 32.77)
1:23760753		G>R	E:649	(-3.78, 15.09, 44.64)
1:23760749		T>I	E:650	(-2.68, 11.85, 44.78)
1:23760177		A>G	E:654	(7.24, 10.71, 40.25)
1:23760157	rs144319319	I>V	E:661	(0.07, 13.69, 33.95)
1:23760153		A>V	E:662	(-2.43, 16.83, 31.93)
1:23760138		H>R	E:667	(-4.19, 15.85, 27.79)
1:23760133	rs138556791	E>K	E:669	(-11.52, 18.30, 28.92)
1:23760129		C>Y	E:670	(-8.09, 16.76, 31.73)
1:23760018		Q>P	E:676	(-12.69, 22.48, 38.07)
1:23760011	rs199856800	Q>H	E:678	(-6.93, 20.45, 42.90)
1:23760013	rs146824903	Q>K	E:678	(-6.93, 20.45, 42.90)
1:23760009		A>V	E:679	(-10.75, 23.72, 44.18)
1:23760000	rs368585298	F>S	E:682	(-9.28, 23.71, 49.50)
1:23759998		A>S	E:683	(-14.78, 23.94, 48.92)
1:23759992		P>S	E:685	(-15.91, 25.55, 54.09)

2B0O.E | ASAP3.

2B0O.E | ASAP3

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
1:23763113	COSM4781216	E>A	E:504	(-28.53, -13.10, 30.20)
1:23762513	COSM2048483	R>H	E:527	(-40.92, -8.94, 47.63)
1:23762396	COSM1718098	A>V	E:566	(-17.24, -11.37, 37.15)