1ITQ.A | DPEP1

General Structure Information

PDB ID	1itq
HGNC Gene Label(s)	DPEP1
Structure Name	human renal dipeptidase
Resolution	2.3Å
Reference	AUTH Y.NITANAI,Y.SATOW,H.ADACHI,M.TSUJIMOTOTITL CRYSTAL STRUCTURE OF HUMAN RENAL DIPEPTIDASE INVOLVED INTITL 2 BETA-LACTAM HYDROLYSISREF J.MOL.BIOL. V. 321 177 2002REFN ISSN 0022-2836PMID 12144777DOI 10.1016/S0022-2836(02)00632-0

Variant Set Distributions

ExAC Variants

Number Of Residues	369
Number Of SNVs	128
Number Of Permutations	25787
Optimal Distance Threshold	7.0
K Statistic	0.02
p-value	0.702

COSMIC

Number Of Residues	369
Number Of SNVs	5
Number Of Permutations	547
Optimal Distance Threshold	8.0
K Statistic	0.1
p-value	0.692

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	128
Number Of COSMIC SNVs	5
Optimal Distance Threshold	28.0
K Statistic	-0.295
p-value	0.683

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:89696876		R>W	A:4	(44.55, 38.10, 27.39)
16:89696877		R>Q	A:4	(44.55, 38.10, 27.39)
16:89696880		D>A	A:5	(42.60, 33.36, 26.02)
16:89696882	rs138170376	E>K	A:6	(45.91, 31.89, 22.49)
16:89696885		A>T	A:7	(48.58, 35.07, 25.11)
16:89696892		R>K	A:9	(48.80, 29.07, 24.46)
16:89696912		V>I	A:16	(58.22, 38.58, 29.18)
16:89696916		I>T	A:17	(62.74, 38.35, 28.64)
16:89702321		N>S	A:21	(62.55, 47.99, 35.09)
16:89702329	rs565633365	P>S	A:24	(66.00, 50.10, 40.95)
16:89702345		D>G	A:29	(63.86, 58.79, 44.76)
16:89702347		M>V	A:30	(60.42, 56.13, 46.84)
16:89702348		M>R	A:30	(60.42, 56.13, 46.84)
16:89702354	rs575637980	N>S	A:32	(67.75, 55.78, 50.58)
16:89702359		R>W	A:34	(65.69, 52.45, 54.70)
16:89702360		R>Q	A:34	(65.69, 52.45, 54.70)
16:89702365		Q>K	A:36	(63.80, 46.26, 56.35)
16:89702371	rs543287105	E>K	A:38	(56.27, 49.78, 56.47)
16:89702373		E>D	A:38	(56.27, 49.78, 56.47)
16:89702389	rs138844009	T>A	A:44	(52.27, 45.85, 48.80)
16:89702395		A>T	A:46	(52.37, 51.60, 45.25)
16:89702396	rs201541506	A>V	A:46	(52.37, 51.60, 45.25)
16:89702398		G>S	A:47	(53.28, 53.99, 42.37)
16:89702401		T>A	A:48	(55.14, 51.62, 41.02)
16:89702408		T>I	A:50	(56.76, 47.40, 39.10)
16:89702411		N>S	A:51	(54.29, 45.00, 41.94)
16:89702416		P>S	A:53	(51.68, 41.32, 42.00)
16:89702420	rs572407422	K>M	A:54	(51.79, 44.68, 38.93)
16:89702425		R>G	A:56	(54.43, 36.28, 38.98)
16:89702428	rs149266877	A>S	A:57	(49.97, 39.16, 35.89)
16:89702429		A>G	A:57	(49.97, 39.16, 35.89)
16:89702431		G>S	A:58	(52.22, 39.61, 33.06)
16:89702432		G>A	A:58	(52.22, 39.61, 33.06)
16:89702437		V>L	A:60	(57.24, 38.81, 33.82)
16:89702675		W>G	A:65	(65.30, 44.26, 37.63)
16:89702681	rs148401413	V>M	A:67	(72.01, 49.70, 37.56)
16:89702685		Y>C	A:68	(69.98, 55.65, 36.34)
16:89702688		T>M	A:69	(73.59, 56.76, 37.94)
16:89702690		P>S	A:70	(72.11, 59.95, 37.30)
16:89702691		P>L	A:70	(72.11, 59.95, 37.30)
16:89702696		D>N	A:72	(74.45, 64.49, 37.80)
16:89702702	COSM3513317	Q>E	A:74	(80.04, 61.73, 34.53)
16:89702714	rs548075315	A>T	A:78	(78.98, 57.06, 39.69)
16:89702717	rs201940244	V>M	A:79	(81.39, 54.21, 40.93)
16:89702720	rs370798757 COSM1493796	R>W	A:80	(78.57, 55.68, 46.61)
16:89702721		R>Q	A:80	(78.57, 55.68, 46.61)
16:89702727	rs201482814	T>M	A:82	(76.69, 51.86, 40.32)
16:89702744	rs73265359	V>M	A:88	(69.05, 47.09, 45.69)
16:89702751	rs569391051	H>L	A:90	(72.67, 41.87, 44.53)
16:89702753		R>C	A:91	(69.42, 44.43, 49.42)
16:89702754	rs536799132	R>H	A:91	(69.42, 44.43, 49.42)
16:89702762	rs202071702 COSM1204466	R>W	A:94	(69.58, 37.07, 49.49)
16:89702763	COSM3387685	R>Q	A:94	(69.58, 37.07, 49.49)
16:89702767		M>I	A:95	(63.94, 40.43, 50.96)
16:89702768	rs146843391	Y>N	A:96	(61.11, 39.99, 48.07)
16:89702771	rs199613842	P>A	A:97	(63.25, 34.29, 47.55)
16:89702772	rs370565415	P>L	A:97	(63.25, 34.29, 47.55)
16:89702944		I>T	A:109	(67.06, 33.16, 32.03)
16:89702947	rs371810243	R>Q	A:110	(66.70, 28.77, 29.13)
16:89702958	COSM435942	R>W	A:114	(63.65, 25.23, 34.08)
16:89702959	COSM417225	R>Q	A:114	(63.65, 25.23, 34.08)
16:89702985		G>S	A:123	(71.85, 46.73, 33.93)
16:89702997	rs145285386	G>S	A:127	(79.48, 54.60, 31.16)
16:89703002		H>Q	A:128	(78.18, 57.33, 33.79)
16:89703006	rs200211325	I>F	A:130	(83.27, 52.50, 33.93)
16:89703012		S>G	A:132	(87.15, 55.58, 32.11)
16:89703018		L>V	A:134	(89.27, 48.56, 31.70)
16:89703024	rs368780168	V>I	A:136	(85.38, 49.43, 37.23)
16:89703030		R>W	A:138	(88.01, 44.03, 34.51)
16:89703033	rs77417030	A>T	A:139	(83.99, 44.74, 38.79)
16:89703034	rs78315344	A>E	A:139	(83.99, 44.74, 38.79)
16:89703036		L>V	A:140	(80.66, 46.27, 37.39)
16:89703039		Y>H	A:141	(81.44, 40.06, 34.48)
16:89703052		M>R	A:145	(77.65, 43.96, 34.24)
16:89703054	rs376172394	R>W	A:146	(76.23, 39.91, 32.81)
16:89703055		R>Q	A:146	(76.23, 39.91, 32.81)
16:89703078		C>G	A:154	(75.75, 61.62, 28.64)
16:89703085	rs149167696	T>M	A:156	(81.54, 59.25, 27.64)
16:89703087		P>A	A:157	(85.30, 60.12, 27.67)
16:89703088		P>R	A:157	(85.30, 60.12, 27.67)
16:89703297		T>M	A:166	(69.41, 66.53, 18.98)
16:89703308	rs368870164 COSM2923332	E>K	A:170	(79.36, 69.53, 21.15)
16:89703318		S>N	A:173	(84.21, 60.42, 20.04)
16:89703612	COSM1204468	R>C	A:182	(90.99, 49.97, 24.53)
16:89703613	rs201533815	R>H	A:182	(90.99, 49.97, 24.53)
16:89703633	rs376403325	R>C	A:189	(87.61, 39.33, 27.57)
16:89703651	rs201093864	D>N	A:195	(72.83, 48.73, 25.31)
16:89703657	COSM3513320	A>T	A:197	(70.64, 52.61, 24.23)
16:89703667		S>F	A:200	(75.09, 58.10, 18.73)
16:89703673		A>V	A:202	(77.98, 56.89, 15.18)
16:89703675	rs199713316	T>A	A:203	(78.14, 54.97, 18.56)
16:89703676		T>I	A:203	(78.14, 54.97, 18.56)
16:89703680		M>I	A:204	(74.38, 53.10, 16.75)
16:89703684	rs34173426	A>T	A:206	(80.84, 51.78, 15.35)
16:89703693		Q>E	A:209	(80.79, 47.85, 11.76)
16:89703694		Q>L	A:209	(80.79, 47.85, 11.76)
16:89703702		R>G	A:212	(83.90, 39.07, 19.08)
16:89703716	rs142237308	I>M	A:216	(71.27, 45.04, 22.80)
16:89703718		F>C	A:217	(69.40, 48.64, 20.34)
16:89703721		S>N	A:218	(67.39, 47.85, 26.07)
16:89703724		H>R	A:219	(65.77, 51.29, 26.58)
16:89703729	rs201233562	S>P	A:221	(61.80, 52.31, 19.34)
16:89703730	rs567746156	S>L	A:221	(61.80, 52.31, 19.34)
16:89703745		C>Y	A:226	(58.91, 58.11, 16.25)
16:89703747		A>T	A:227	(61.37, 60.95, 15.09)
16:89703748		A>V	A:227	(61.37, 60.95, 15.09)
16:89703753	rs150320659	R>W	A:229	(67.62, 60.80, 16.47)
16:89703756	rs377182881	R>C	A:230	(66.25, 56.78, 22.76)
16:89703765		P>S	A:233	(67.58, 54.35, 12.45)
16:89703885		D>Y	A:244	(71.29, 38.33, 14.45)
16:89703886	rs375489456	D>A	A:244	(71.29, 38.33, 14.45)
16:89703894		V>L	A:247	(65.50, 46.11, 18.93)
16:89703904		N>S	A:250	(60.59, 52.25, 24.84)
16:89703912		N>H	A:253	(53.83, 57.70, 25.42)
16:89703916		N>S	A:254	(56.98, 60.89, 24.14)
16:89703928		C>F	A:258	(56.19, 61.55, 19.21)
16:89703930		T>A	A:259	(52.91, 62.56, 21.92)
16:89703957		A>T	A:268	(52.42, 47.32, 17.56)
16:89703960	rs201528419	D>N	A:269	(52.51, 50.06, 14.88)
16:89704052		H>R	A:273	(59.24, 49.33, 10.96)
16:89704057		K>E	A:275	(58.50, 41.81, 11.67)
16:89704063	COSM974910	V>M	A:277	(63.38, 46.67, 8.47)
16:89704067	rs566558137	A>V	A:278	(65.16, 43.81, 10.97)
16:89704081	rs185952042	V>M	A:283	(61.70, 41.79, 18.00)
16:89704085		G>D	A:284	(61.60, 43.12, 21.66)
16:89704096		D>N	A:288	(61.46, 52.36, 30.23)
16:89704105		G>S	A:291	(61.47, 55.52, 33.97)
16:89704249		P>R	A:296	(51.03, 53.24, 27.02)
16:89704251	COSM319986	E>Q	A:297	(45.56, 54.02, 26.31)
16:89704254		G>R	A:298	(47.03, 49.37, 28.02)
16:89704263		D>Y	A:301	(51.05, 47.94, 34.49)
16:89704266	rs369042310	V>I	A:302	(54.22, 45.10, 34.50)
16:89704269		S>P	A:303	(50.01, 43.54, 33.90)
16:89704275		Y>H	A:305	(54.14, 43.06, 29.16)
16:89704282		D>G	A:307	(46.75, 42.87, 26.50)
16:89704287		I>V	A:309	(51.19, 39.39, 22.89)
16:89704309		N>S	A:316	(48.81, 37.17, 11.32)
16:89704315	rs373692597	T>M	A:318	(53.67, 33.64, 14.03)
16:89704342		A>V	A:327	(62.50, 35.23, 24.90)
16:89704365	rs1126464	E>Q	A:335	(73.13, 31.69, 23.64)
16:89704378	rs562510038	Q>R	A:339	(79.44, 31.07, 22.88)
16:89704460		A>T	A:340	(82.27, 35.46, 22.10)
16:89704461	rs139747544	A>V	A:340	(82.27, 35.46, 22.10)
16:89704469	rs368062540	L>F	A:343	(87.47, 34.92, 30.30)
16:89704482	rs550518183	P>L	A:347	(92.85, 41.31, 30.18)
16:89704484	rs147872447	E>K	A:348	(92.17, 45.21, 27.27)
16:89704486	rs199909597	E>D	A:348	(92.17, 45.21, 27.27)
16:89704497		I>T	A:352	(91.91, 56.66, 29.38)
16:89704507	rs536921565	D>E	A:355	(94.33, 63.81, 27.88)
16:89704528	rs141572290	R>S	A:362	(89.44, 62.02, 38.66)
16:89704536		Y>C	A:365	(97.91, 58.53, 42.60)
16:89704538		G>S	A:366	(100.09, 56.00, 37.31)
16:89704539	rs200396940	G>D	A:366	(100.09, 56.00, 37.31)

1ITQ.A | DPEP1.

1ITQ.A | DPEP1

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