4OE5.D | ALDH4A1

General Structure Information

PDB ID	4oe5
HGNC Gene Label(s)	ALDH4A1
Structure Name	structure of human aldh4a1 crystallized in space group p21
Resolution	1.95Å
Reference	AUTH T.A.PEMBERTON,D.SRIVASTAVA,N.SANYAL,M.T.HENZL,D.F.BECKER,AUTH 2 J.J.TANNERTITL STRUCTURAL STUDIES OF YEAST DELTATITL 2 (1)-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE (ALDH4A1): ACTIVETITL 3 SITE FLEXIBILITY AND OLIGOMERIC STATE.REF BIOCHEMISTRY V. 53 1350 2014REFN ISSN 0006-2960PMID 24502590DOI 10.1021/BI500048B

Variant Set Distributions

ExAC Variants

Number Of Residues	507
Number Of SNVs	161
Number Of Permutations	70725
Optimal Distance Threshold	13.0
K Statistic	0.072
p-value	0.254

COSMIC

Number Of Residues	507
Number Of SNVs	5
Number Of Permutations	425
Optimal Distance Threshold	20.0
K Statistic	0.1
p-value	0.697

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	161
Number Of COSMIC SNVs	4
Optimal Distance Threshold	14.0
K Statistic	-0.087
p-value	1.0

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:19216594	rs370773796	R>L	D:23	(9.25, 13.25, 88.37)
1:19216595		R>W	D:23	(9.25, 13.25, 88.37)
1:19216592	rs554530902	W>R	D:24	(4.65, 14.75, 88.45)
1:19216586		H>N	D:26	(-1.20, 15.19, 85.68)
1:19216570	rs146890942	K>T	D:31	(-14.50, 11.70, 77.60)
1:19216568		V>M	D:32	(-16.17, 10.78, 74.05)
1:19216561		N>S	D:34	(-21.62, 8.57, 70.52)
1:19216553		V>I	D:37	(-29.25, 10.69, 65.36)
1:19216540		T>M	D:41	(-39.91, 15.71, 63.86)
1:19216530		S>R	D:44	(-38.50, 20.22, 64.47)
1:19216528		P>L	D:45	(-36.02, 22.31, 65.96)
1:19216522	rs199817627	R>Q	D:47	(-38.27, 18.96, 59.49)
1:19216516	rs377342430	A>V	D:49	(-33.09, 24.67, 59.94)
1:19216510		Q>R	D:51	(-35.52, 24.05, 55.35)
1:19215926	rs114609576	R>Q	D:60	(-27.58, 30.36, 45.80)
1:19215923	rs534751701	M>T	D:61	(-23.01, 28.77, 41.89)
1:19215906	rs141327098	V>M	D:67	(-7.12, 27.17, 50.01)
1:19215890		E>G	D:72	(-9.05, 32.60, 48.34)
1:19215885		W>R	D:74	(-10.74, 30.83, 41.58)
1:19215873	rs370369758	V>M	D:78	(-13.41, 26.18, 35.82)
1:19215861	rs76762510	V>M	D:82	(-24.20, 19.01, 39.66)
1:19213004		P>H	D:84	(-27.44, 14.65, 41.81)
1:19212962		D>V	D:98	(-1.77, 23.96, 38.50)
1:19212116		L>I	D:102	(-0.17, 20.91, 43.63)
1:19212112		N>S	D:103	(4.59, 21.92, 43.57)
1:19212103		I>T	D:106	(4.07, 20.68, 48.68)
1:19212099		E>D	D:107	(7.34, 23.84, 49.12)
1:19212097		A>V	D:108	(3.84, 25.76, 52.35)
1:19212086		A>T	D:112	(4.30, 24.57, 58.68)
1:19212083	rs142923662	R>W	D:113	(6.41, 19.47, 59.68)
1:19212061		P>H	D:120	(0.77, 20.39, 72.04)
1:19212062		P>S	D:120	(0.77, 20.39, 72.04)
1:19212058	COSM3360551 COSM3360552	I>T	D:121	(-2.13, 16.35, 70.97)
1:19212059		I>V	D:121	(-2.13, 16.35, 70.97)
1:19212051	rs147600006	D>E	D:123	(-3.14, 22.34, 71.77)
1:19212039	rs147348663	I>M	D:127	(-8.69, 22.57, 66.51)
1:19212028	rs370509187	A>V	D:131	(-15.35, 21.34, 64.77)
1:19212013		S>N	D:136	(-23.43, 19.53, 66.32)
1:19212007	rs139640415	P>L	D:138	(-24.09, 25.89, 64.72)
1:19212004	rs368241243	R>H	D:139	(-21.56, 25.67, 60.79)
1:19211999	rs377259750	A>T	D:141	(-28.04, 22.60, 58.68)
1:19211987	rs113846237	A>T	D:145	(-27.91, 20.72, 52.98)
1:19209913		V>M	D:155	(-32.60, 13.73, 55.90)
1:19209903		A>V	D:158	(-27.04, 13.06, 56.11)
1:19209897	rs368287797	I>T	D:160	(-26.40, 8.66, 59.83)
1:19209892	rs547682292	A>T	D:162	(-22.56, 13.63, 60.16)
1:19209888	rs371138249	A>V	D:163	(-22.71, 11.79, 63.20)
1:19209889	rs201780333	A>T	D:163	(-22.71, 11.79, 63.20)
1:19209885		A>V	D:164	(-20.30, 9.38, 62.01)
1:19209886	rs369957092	A>P	D:164	(-20.30, 9.38, 62.01)
1:19209864		R>Q	D:171	(-16.54, 14.58, 69.27)
1:19209865	rs367696082	R>W	D:171	(-16.54, 14.58, 69.27)
1:19209856		A>T	D:174	(-9.05, 13.19, 69.85)
1:19209846		A>V	D:177	(-4.50, 11.04, 70.59)
1:19209832		G>W	D:182	(-0.54, 8.26, 78.36)
1:19209819	rs375023861	I>T	D:186	(8.80, 3.15, 83.07)
1:19209813		V>G	D:188	(13.89, 3.67, 86.53)
1:19209814	rs138334153	V>M	D:188	(13.89, 3.67, 86.53)
1:19209807		P>L	D:190	(19.38, 6.66, 86.73)
1:19209792	rs72936434	T>M	D:195	(6.98, 8.01, 73.95)
1:19209783		R>Q	D:198	(8.21, 11.23, 65.45)
1:19209784	rs531481821	R>W	D:198	(8.21, 11.23, 65.45)
1:19209686	rs200662086 COSM677428 COSM1146108	V>M	D:204	(-0.11, 13.66, 53.82)
1:19209682		A>V	D:205	(-2.09, 12.84, 50.47)
1:19209683	rs561984134	A>T	D:205	(-2.09, 12.84, 50.47)
1:19209673	COSM3863921 COSM3863922	S>L	D:208	(-11.06, 11.48, 46.87)
1:19209674		S>P	D:208	(-11.06, 11.48, 46.87)
1:19209655		A>V	D:214	(-17.33, 11.21, 50.44)
1:19209653		I>V	D:215	(-16.87, 14.76, 52.89)
1:19209650		G>S	D:216	(-13.13, 13.38, 53.79)
1:19209647		G>S	D:217	(-12.51, 14.57, 56.62)
1:19209637	rs199643601	A>V	D:220	(-7.52, 15.16, 56.28)
1:19209638		A>P	D:220	(-7.52, 15.16, 56.28)
1:19209632		A>S	D:222	(-6.28, 12.19, 61.00)
1:19209628		P>L	D:223	(-3.64, 12.97, 59.20)
1:19209629	rs141713027	P>A	D:223	(-3.64, 12.97, 59.20)
1:19209619	rs201404998	M>T	D:226	(-1.42, 12.67, 64.62)
1:19208380		G>A	D:227	(1.07, 16.52, 62.76)
1:19208377		N>S	D:228	(0.76, 15.29, 59.70)
1:19208375	COSM4026280 COSM4026281	V>M	D:229	(1.16, 18.65, 56.60)
1:19208362	rs376422570	K>R	D:233	(-8.40, 15.43, 45.58)
1:19208350		T>S	D:237	(-19.23, 14.83, 43.63)
1:19208348		A>T	D:238	(-18.44, 16.79, 47.47)
1:19208335		S>I	D:242	(-15.89, 19.40, 51.42)
1:19208320	rs558761793	R>L	D:247	(-13.61, 28.03, 56.04)
1:19208321		R>C	D:247	(-13.61, 28.03, 56.04)
1:19208311		R>Q	D:250	(-8.62, 27.42, 58.56)
1:19208312	rs372738622	R>W	D:250	(-8.62, 27.42, 58.56)
1:19208297		P>S	D:255	(-3.31, 26.49, 61.46)
1:19208293	rs143835001	P>R	D:256	(-2.01, 28.44, 58.23)
1:19208290	COSM1667205 COSM1667204	N>S	D:257	(-0.07, 26.11, 55.24)
1:19208273		P>S	D:263	(-9.21, 20.97, 44.20)
1:19208265		D>E	D:265	(-7.16, 15.63, 37.48)
1:19208266		D>G	D:265	(-7.16, 15.63, 37.48)
1:19208239		T>I	D:274	(3.73, 10.16, 43.46)
1:19208220	rs376208048	C>W	D:280	(4.88, 11.04, 54.02)
1:19208215		I>T	D:282	(-1.24, 8.24, 50.30)
1:19208208		F>L	D:284	(-7.57, 6.14, 48.43)
1:19208198	rs532080912	V>M	D:288	(-9.09, -1.61, 44.72)
1:19208194	rs150113425	P>L	D:289	(-8.07, -0.36, 41.15)
1:19205865	rs200799591	T>S	D:290	(-7.20, 3.61, 42.15)
1:19205860		K>Q	D:292	(-2.90, -0.12, 43.31)
1:19205855		H>Q	D:293	(-1.96, 3.66, 39.90)
1:19205848		K>E	D:296	(1.58, -0.08, 41.22)
1:19205823	rs553074372	R>Q	D:304	(11.84, 10.96, 43.58)
1:19205824	rs201010428	R>W	D:304	(11.84, 10.96, 43.58)
1:19205805		R>H	D:310	(3.45, 5.54, 56.98)
1:19205806		R>C	D:310	(3.45, 5.54, 56.98)
1:19204088	rs552112789	F>C	D:320	(-21.77, -11.53, 52.27)
1:19204086		H>N	D:321	(-26.91, -10.05, 53.03)
1:19204080		V>M	D:323	(-29.99, -16.82, 53.76)
1:19204074		R>C	D:325	(-33.54, -22.86, 55.92)
1:19204070	rs139430775	S>L	D:326	(-33.48, -20.72, 59.69)
1:19204044		G>R	D:335	(-32.06, -5.60, 55.33)
1:19204035	COSM3480536 COSM3480537	R>C	D:338	(-32.64, -0.92, 55.79)
1:19204031	rs368635653	S>L	D:339	(-27.93, -2.72, 52.44)
1:19204023	rs376049478	E>Q	D:342	(-29.81, 2.56, 52.57)
1:19204007		K>R	D:347	(-23.29, 2.57, 51.44)
1:19204005		C>R	D:348	(-18.37, 0.60, 50.83)
1:19203998	rs139352940	A>V	D:350	(-23.44, -2.47, 50.37)
1:19203977		P>L	D:357	(-32.71, -20.77, 50.50)
1:19203974	rs145243354	H>R	D:358	(-35.74, -23.70, 46.31)
1:19203965		W>S	D:361	(-36.60, -16.97, 45.90)
1:19203954		K>Q	D:365	(-39.61, -13.72, 44.52)
1:19203951	rs41306567	G>R	D:366	(-42.39, -11.60, 47.36)
1:19203947		R>Q	D:367	(-42.55, -9.38, 51.65)
1:19203948	rs562344368 COSM4026278 COSM4026279	R>W	D:367	(-42.55, -9.38, 51.65)
1:19203927		R>W	D:374	(-43.05, 0.58, 48.95)
1:19203733	rs371743661	G>E	D:385	(-39.94, 10.37, 51.63)
1:19203730		T>I	D:386	(-37.07, 10.17, 49.52)
1:19203725	rs41273175	F>L	D:388	(-33.04, 5.69, 46.42)
1:19203715		V>A	D:391	(-26.80, 8.27, 41.15)
1:19203716		V>L	D:391	(-26.80, 8.27, 41.15)
1:19203703	rs537654831	K>T	D:395	(-20.25, 8.22, 35.22)
1:19202952	rs138308070	R>C	D:399	(-20.94, 2.51, 36.70)
1:19202930		H>P	D:406	(-25.19, -7.88, 31.60)
1:19202931		H>D	D:406	(-25.19, -7.88, 31.60)
1:19202927	rs568701898 COSM1601436 COSM1601435	A>V	D:407	(-29.26, -8.00, 32.95)
1:19202924		R>H	D:408	(-31.17, -8.05, 29.99)
1:19202925		R>C	D:408	(-31.17, -8.05, 29.99)
1:19202921	rs377173835	S>F	D:409	(-28.44, -9.39, 27.74)
1:19202918	rs538421159	S>L	D:410	(-27.59, -12.20, 30.38)
1:19202916	rs552705007	P>S	D:411	(-28.46, -15.54, 29.36)
1:19202913		S>G	D:412	(-27.77, -16.09, 33.30)
1:19202904	rs140255852	I>V	D:415	(-34.65, -7.87, 35.59)
1:19202895	rs148586081	G>R	D:418	(-36.78, -2.80, 37.70)
1:19202891		G>D	D:419	(-34.33, -1.42, 35.22)
1:19202886	rs149414160	C>R	D:421	(-32.94, 4.69, 33.68)
1:19202876		S>Y	D:424	(-33.86, 14.11, 32.09)
1:19202874		V>M	D:425	(-33.91, 15.87, 35.54)
1:19202855		P>H	D:431	(-34.72, 0.13, 42.59)
1:19202856	rs544211563	P>S	D:431	(-34.72, 0.13, 42.59)
1:19202809	rs149892137	E>D	D:446	(-17.89, -7.08, 38.67)
1:19201978		L>P	D:453	(-29.78, -6.94, 44.65)
1:19201960		P>L	D:459	(-29.87, -25.90, 46.62)
1:19201957		D>G	D:460	(-31.89, -26.11, 50.98)
1:19201955	rs377270740	D>N	D:461	(-28.72, -30.00, 49.60)
1:19201951	rs150762865	K>T	D:462	(-25.49, -27.26, 47.58)
1:19201948		Y>C	D:463	(-25.41, -25.40, 54.35)
1:19201939	rs372612033	T>M	D:466	(-23.21, -21.92, 49.06)
1:19201928	rs2230709	V>I	D:470	(-19.59, -16.65, 49.43)
1:19201918		T>S	D:473	(-16.74, -15.38, 44.81)
1:19201919	rs6695033	T>A	D:473	(-16.74, -15.38, 44.81)
1:19201907		G>S	D:477	(-13.89, -8.40, 52.13)
1:19201897		G>E	D:480	(-21.35, -9.23, 56.07)
1:19201071	rs150916561	V>I	D:489	(-25.48, -22.58, 60.81)
1:19201065	rs563859389	Q>E	D:491	(-20.76, -21.06, 63.80)
1:19201059		A>T	D:493	(-20.42, -19.37, 58.78)
1:19201053		K>E	D:495	(-15.49, -20.07, 59.93)
1:19201040	rs369624696	N>S	D:499	(-10.81, -14.30, 55.64)
1:19201024		F>L	D:504	(-19.87, -11.52, 60.01)
1:19201014	rs371499176	D>N	D:508	(-28.20, -7.00, 61.12)
1:19201011		K>E	D:509	(-28.08, -4.00, 57.91)
1:19201007		S>C	D:510	(-24.06, -4.99, 55.52)
1:19200998	rs545207632	S>L	D:513	(-27.18, -0.35, 62.74)
1:19199424		H>R	D:536	(-5.48, 2.42, 65.55)
1:19199425		H>N	D:536	(-5.48, 2.42, 65.55)
1:19199422		Y>D	D:537	(-7.89, 2.75, 61.53)
1:19199412		R>H	D:540	(-0.44, 5.51, 60.52)
1:19199413	rs576534785 COSM3480526 COSM3480527	R>C	D:540	(-0.44, 5.51, 60.52)
1:19199409		W>S	D:541	(-1.43, 8.68, 59.07)
1:19199406		T>M	D:542	(2.59, 8.38, 64.26)
1:19199403	rs149468487	S>L	D:543	(6.76, 8.10, 64.28)
1:19199400	rs72953172	P>L	D:544	(7.12, 6.37, 67.33)
1:19199395		V>F	D:546	(12.08, 6.42, 72.50)
1:19199391	rs368786991	I>T	D:547	(13.31, 10.28, 74.59)

4OE5.D | ALDH4A1.

4OE5.D | ALDH4A1

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
1:19216559	COSM1151956	E>K	D:35	(-23.55, 13.35, 68.04)
1:19212005	COSM677427	R>C	D:139	(-21.56, 25.67, 60.79)
1:19208375	COSM4026280	V>M	D:229	(1.16, 18.65, 56.60)
1:19203999	COSM3689223	A>T	D:350	(-23.44, -2.47, 50.37)
1:19202927	COSM1601435	A>V	D:407	(-29.26, -8.00, 32.95)
1:19201928	COSM4986039	V>I	D:470	(-19.59, -16.65, 49.43)