3IAR.A | ADA – ASTRID

3IAR.A | ADA

General Structure Information

PDB ID	3iar
HGNC Gene Label(s)	ADA
Structure Name	the crystal structure of human adenosine deaminase
Resolution	1.52Å
Reference	AUTH E.UGOCHUKWU,Y.ZHANG,E.HAPKA,W.W.YUE,J.E.BRAY,J.MUNIZ,AUTH 2 N.BURGESS-BROWN,A.CHAIKUAD,K.L.KAVANAGH,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN ADENOSINE DEAMINASEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	359
Number Of SNVs	109
Number Of Permutations	12143
Optimal Distance Threshold	6.0
K Statistic	0.012
p-value	0.678

ClinVar

Number Of Residues	359
Number Of SNVs	19
Number Of Permutations	2272
Optimal Distance Threshold	18.0
K Statistic	0.409
p-value	0.025

COSMIC

Number Of Residues	359
Number Of SNVs	5
Number Of Permutations	26
Optimal Distance Threshold	19.0
K Statistic	0.1
p-value	0.408

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	109
Number Of ClinVar SNVs	18
Optimal Distance Threshold	18.0
K Statistic	0.122
p-value	0.108

Cosmic vs. ExAC

Number Of ExAC SNVs	109
Number Of COSMIC SNVs	5
Optimal Distance Threshold	28.0
K Statistic	-0.397
p-value	0.046

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
20:43280227	rs73598374	D>N	A:8	(-14.30, 15.13, -3.82)
20:43264920	rs121908725	H>D	A:15	(-1.74, -1.13, 1.97)
20:43264901	COSM1684874	S>C	A:21	(5.05, 7.71, -1.01)
20:43264902	rs139350872	S>A	A:21	(5.05, 7.71, -1.01)
20:43264893		P>T	A:24	(10.01, 13.20, -6.64)
20:43264884	rs376138229	I>V	A:27	(14.38, 11.79, -4.11)
20:43264881	rs199886437	L>V	A:28	(16.51, 15.72, -6.80)
20:43264877		Y>C	A:29	(17.41, 18.87, -1.33)
20:43264874		Y>C	A:30	(17.55, 15.30, 0.99)
20:43264875		Y>H	A:30	(17.55, 15.30, 0.99)
20:43257808		R>K	A:33	(22.10, 18.61, 1.56)
20:43257799		I>T	A:36	(23.72, 10.07, -3.01)
20:43257796	rs151336936	A>V	A:37	(23.66, 8.84, -7.14)
20:43257781		T>R	A:42	(14.85, 15.72, -13.31)
20:43257745		K>R	A:54	(3.28, -1.79, -19.18)
20:43257742	rs77588173	P>L	A:55	(2.35, -4.82, -16.26)
20:43257727		D>G	A:60	(10.61, -6.40, -11.62)
20:43257725		F>L	A:61	(7.42, -3.07, -7.02)
20:43257712		F>S	A:65	(11.84, 0.58, -3.53)
20:43257694		A>V	A:71	(18.85, 9.41, -0.88)
20:43257692	rs148785262	I>V	A:72	(16.11, 9.07, 1.82)
20:43257688		A>V	A:73	(18.69, 6.37, 3.82)
20:43255238	rs151344535	G>V	A:74	(20.45, 7.92, 6.85)
20:43255232	rs374983783	R>Q	A:76	(19.11, 11.70, 11.70)
20:43255233	rs121908736	R>W	A:76	(19.11, 11.70, 11.70)
20:43255220	rs11555566	K>R	A:80	(10.96, 14.62, 10.58)
20:43255212		A>T	A:83	(6.48, 12.02, 7.07)
20:43255208		Y>C	A:84	(5.33, 17.71, 7.41)
20:43255199		V>A	A:87	(0.40, 14.05, 5.88)
20:43255176	rs145963969	V>M	A:95	(-7.20, 11.56, 3.31)
20:43255172		V>A	A:96	(-9.46, 11.95, 7.01)
20:43255167		V>M	A:98	(-3.38, 7.49, 7.11)
20:43255157	rs121908714	R>P	A:101	(2.23, -0.28, 5.62)
20:43255146	rs201522960	H>Y	A:105	(15.32, -2.43, 10.08)
20:43255139	rs121908739	L>P	A:107	(15.09, 4.18, 6.44)
20:43255133		N>S	A:109	(23.09, 3.75, 9.02)
20:43255128	rs543345924	K>E	A:111	(21.40, -1.50, 15.71)
20:43255118	rs374166838	P>Q	A:114	(22.09, -6.59, 6.04)
20:43255112		P>H	A:116	(20.76, -1.08, 3.87)
20:43255113		P>S	A:116	(20.76, -1.08, 3.87)
20:43255110		W>R	A:117	(19.05, 0.45, 0.19)
20:43255104		Q>K	A:119	(24.12, 2.50, 3.78)
20:43254324		G>R	A:122	(26.38, 4.76, 11.16)
20:43254263	rs61732239	R>Q	A:142	(0.77, 20.43, 14.01)
20:43254254	rs551821715	G>E	A:145	(-5.79, 17.36, 9.26)
20:43254243	rs121908733	R>W	A:149	(-1.81, 7.36, 13.76)
20:43254234	rs121908728	L>M	A:152	(6.41, -1.00, 12.05)
20:43254230	rs371028908	C>F	A:153	(7.37, -3.63, 8.16)
20:43254222	rs121908735	R>C	A:156	(7.67, -12.60, 3.84)
20:43252949	rs372671189	E>G	A:167	(11.39, -3.82, 20.70)
20:43252941	rs371134570	K>E	A:170	(5.95, -3.29, 22.54)
20:43252935		Y>H	A:172	(8.49, 4.26, 19.52)
20:43252920	rs121908719	V>M	A:177	(2.98, 2.62, 16.26)
20:43252916		V>A	A:178	(-1.07, 1.11, 15.25)
20:43252913	rs121908727	A>D	A:179	(0.88, -2.05, 13.79)
20:43252898		G>E	A:184	(7.66, -8.59, 0.44)
20:43252880		G>E	A:190	(8.11, -20.51, 4.26)
20:43252862		G>E	A:196	(10.71, -14.63, 13.70)
20:43251717		E>D	A:203	(5.00, -10.72, 21.74)
20:43251708		K>N	A:206	(1.65, -11.52, 25.09)
20:43251704		G>S	A:208	(-1.68, -5.83, 21.61)
20:43251698		H>Y	A:210	(-3.72, -4.12, 16.22)
20:43251694	rs121908716	R>H	A:211	(-2.38, -8.70, 14.61)
20:43251695	rs121908740	R>C	A:211	(-2.38, -8.70, 14.61)
20:43251691	rs375707215	T>S	A:212	(-1.26, -6.58, 8.81)
20:43251683	rs114025668	A>T	A:215	(-1.36, -12.04, 1.49)
20:43251680	rs121908723	G>R	A:216	(-2.42, -12.83, -1.99)
20:43251674		V>L	A:218	(1.66, -12.88, -5.81)
20:43251667		S>L	A:220	(-1.48, -18.94, -2.64)
20:43251662	rs371353841 COSM1533725	E>K	A:222	(-2.25, -22.26, 1.33)
20:43251656		V>I	A:224	(-3.96, -16.32, 3.10)
20:43251563		D>E	A:229	(-4.42, -19.99, 10.68)
20:43251565		D>H	A:229	(-4.42, -19.99, 10.68)
20:43251562		I>L	A:230	(0.30, -19.44, 11.76)
20:43251559		L>F	A:231	(1.02, -14.91, 11.51)
20:43251535		G>S	A:239	(-5.99, -11.06, -0.86)
20:43251511		A>T	A:247	(-13.95, -22.00, 1.81)
20:43251504		Y>C	A:249	(-14.85, -15.25, 0.50)
20:43251502		N>H	A:250	(-17.28, -18.56, 3.79)
20:43251497		R>S	A:251	(-12.14, -19.03, 8.00)
20:43251492	rs148994526	R>Q	A:253	(-17.41, -12.48, 4.31)
20:43251493	rs201944717 ADAbase_D0001:g.29884C>T COSM69528	R>W	A:253	(-17.41, -12.48, 4.31)
20:43251485		E>D	A:255	(-13.72, -14.75, 10.79)
20:43251480	rs145863450	M>T	A:257	(-10.90, -10.51, 7.35)
20:43251289		C>Y	A:262	(-4.59, -2.36, -4.03)
20:43251281		S>P	A:265	(-1.01, -2.22, -7.41)
20:43251253	rs121908738	P>L	A:274	(-6.28, -7.36, -17.14)
20:43251247		T>M	A:276	(-9.40, -11.16, -14.87)
20:43251243	rs542229902	E>D	A:277	(-13.41, -9.59, -13.59)
20:43251230	rs559798694 COSM166978	R>W	A:282	(-17.10, -12.48, -4.77)
20:43249787		L>F	A:283	(-15.29, -8.17, -1.93)
20:43249781		N>Y	A:285	(-21.33, -7.91, -5.36)
20:43249776		D>E	A:286	(-20.52, -10.58, -1.41)
20:43249762	rs121908721	S>L	A:291	(-10.01, -1.02, 1.71)
20:43249748		D>N	A:296	(3.65, 1.70, -3.58)
20:43249744	rs121908718	P>L	A:297	(2.03, 5.94, -4.78)
20:43249734		F>L	A:300	(2.30, 1.87, -8.50)
20:43249735	rs371305751	F>C	A:300	(2.30, 1.87, -8.50)
20:43249723	rs151344534	L>R	A:304	(-6.69, 7.30, -3.47)
20:43249704	rs145924854	M>I	A:310	(-10.08, 1.57, -11.87)
20:43249702		T>I	A:311	(-13.57, 1.27, -9.18)
20:43249699	COSM443872	K>R	A:312	(-16.74, 5.51, -11.21)
20:43249700	rs530131290	K>Q	A:312	(-16.74, 5.51, -11.21)
20:43249696		R>Q	A:313	(-13.51, 3.67, -16.46)
20:43249693	rs547569818	D>G	A:314	(-13.87, -0.01, -15.40)
20:43249690		M>T	A:315	(-15.29, -2.05, -11.42)
20:43249676	COSM577664	E>K	A:320	(-23.14, 4.26, -1.72)
20:43249670		F>L	A:322	(-16.79, 4.69, -3.35)
20:43249663		R>K	A:324	(-19.80, -0.45, 2.39)
20:43249034		N>K	A:328	(-16.00, -1.07, 6.75)
20:43249035		N>S	A:328	(-16.00, -1.07, 6.75)
20:43249036	rs551832248	N>H	A:328	(-16.00, -1.07, 6.75)
20:43249032	rs121908715	A>V	A:329	(-11.98, 1.27, 7.20)
20:43249029		A>V	A:330	(-12.76, 2.86, 10.22)
20:43249026	rs372131830	K>T	A:331	(-15.96, 0.01, 11.60)
20:43249012		P>S	A:336	(-7.89, 3.52, 19.60)
20:43249000		K>E	A:340	(-12.35, 3.20, 15.82)
20:43248990		L>P	A:343	(-12.94, 8.40, 12.01)
20:43248985	COSM1027113	D>N	A:345	(-18.73, 11.46, 14.09)
20:43248948		A>G	A:357	(-27.95, 6.56, 15.02)

3IAR.A | ADA.

3IAR.A | ADA

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
20:43280227	COSM3758586	D>N	A:8	(-14.30, 15.13, -3.82)
20:43255220	COSM4985244	K>R	A:80	(10.96, 14.62, 10.58)
20:43255112	COSM3292947	P>L	A:116	(20.76, -1.08, 3.87)
20:43251662	COSM1533725	E>K	A:222	(-2.25, -22.26, 1.33)
20:43251493	COSM69528	R>W	A:253	(-17.41, -12.48, 4.31)