3KFQ.A | CTSV – ASTRID

3KFQ.A | CTSV

General Structure Information

PDB ID	3kfq
HGNC Gene Label(s)	CTSV
Structure Name	unreduced cathepsin v in complex with stefin a
Resolution	1.99Å
Reference	AUTH M.RENKO,D.TURKTITL UNREDUCED CATHEPSIN V IN COMPLEX WITH STEFIN AREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	220
Number Of SNVs	65
Number Of Permutations	28732
Optimal Distance Threshold	17.0
K Statistic	0.303
p-value	0.549

COSMIC

Number Of Residues	220
Number Of SNVs	4
Number Of Permutations	769
Optimal Distance Threshold	20.0
K Statistic	0.167
p-value	0.64

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:99799561	rs139348613	K>N	A:10	(26.56, 45.42, 58.17)
9:99799554		V>M	A:13	(27.97, 51.75, 51.40)
9:99799550		T>M	A:14	(29.61, 55.32, 50.04)
9:99799028		K>R	A:20	(27.36, 63.82, 35.85)
9:99798998	rs376320242	A>V	A:30	(35.41, 49.75, 41.66)
9:99798995	rs149608627	T>I	A:31	(35.32, 52.66, 44.05)
9:99798990		A>T	A:33	(34.00, 47.34, 45.95)
9:99798976		Q>H	A:37	(36.26, 44.47, 50.78)
9:99798974		M>T	A:38	(39.41, 48.67, 52.69)
9:99798971		F>C	A:39	(34.06, 48.76, 56.57)
9:99798972		F>L	A:39	(34.06, 48.76, 56.57)
9:99798968		R>Q	A:40	(36.85, 43.11, 55.06)
9:99798969	rs138352309	R>W	A:40	(36.85, 43.11, 55.06)
9:99798960	rs370564547	G>R	A:43	(36.25, 49.81, 59.75)
9:99798957	rs554954265	K>E	A:44	(37.86, 52.85, 59.32)
9:99798954		L>F	A:45	(33.65, 54.12, 54.94)
9:99798939	COSM3433373	E>K	A:50	(36.04, 57.58, 41.12)
9:99798927	rs77372598	V>L	A:54	(39.76, 57.98, 34.79)
9:99798917	COSM3927315	S>L	A:57	(43.77, 52.87, 34.16)
9:99798914	rs566025108	R>H	A:58	(43.98, 54.95, 29.30)
9:99798899		Q>R	A:63	(39.08, 53.47, 27.04)
9:99798890		N>S	A:66	(35.71, 56.45, 26.16)
9:99798881		F>S	A:69	(36.23, 46.35, 31.69)
9:99798877		M>I	A:70	(35.09, 46.69, 37.05)
9:99798879		M>V	A:70	(35.09, 46.69, 37.05)
9:99798873		R>G	A:72	(40.58, 46.16, 32.36)
9:99798864	rs140238295	Q>E	A:75	(45.48, 44.58, 37.89)
9:99798860		Y>C	A:76	(45.93, 51.43, 38.84)
9:99798852		E>K	A:79	(49.94, 46.90, 38.47)
9:99798846		G>R	A:81	(49.89, 50.24, 45.32)
9:99798821		Y>C	A:89	(42.75, 62.35, 42.15)
9:99797932	rs376254354	D>V	A:109	(44.16, 45.47, 45.34)
9:99797920		T>I	A:113	(37.73, 37.33, 42.61)
9:99797908	rs188904054	P>L	A:117	(30.56, 33.11, 34.65)
9:99797909		P>A	A:117	(30.56, 33.11, 34.65)
9:99797905		G>A	A:118	(26.01, 33.37, 35.06)
9:99797902		K>R	A:119	(26.54, 30.73, 37.62)
9:99797886		M>I	A:124	(23.46, 34.62, 46.79)
9:99797882		A>T	A:126	(29.44, 36.62, 47.12)
9:99797876	rs149543665	A>T	A:128	(26.80, 36.99, 51.63)
9:99797864		P>T	A:132	(29.88, 44.86, 48.26)
9:99797855	rs560756442 COSM754997	V>I	A:135	(28.06, 44.07, 38.44)
9:99797849		M>V	A:137	(23.82, 46.17, 33.63)
9:99797839	rs146994010	G>V	A:140	(19.94, 51.01, 27.88)
9:99797836		H>R	A:141	(17.03, 48.99, 27.79)
9:99797818		Y>C	A:147	(13.66, 52.25, 38.81)
9:99797816		K>Q	A:148	(11.21, 56.19, 40.24)
9:99797119		Y>C	A:152	(14.37, 46.76, 35.58)
9:99797111		P>T	A:155	(11.46, 42.04, 28.55)
9:99797105		C>G	A:157	(17.41, 42.62, 28.76)
9:99797102		S>R	A:158	(21.07, 41.41, 27.55)
9:99797095		K>R	A:160	(25.92, 38.83, 25.19)
9:99797075		L>M	A:167	(27.70, 48.00, 43.64)
9:99797066		G>S	A:170	(22.32, 43.04, 47.81)
9:99797060	rs551605839 COSM1111660	G>S	A:172	(15.89, 39.84, 48.24)
9:99797055		F>L	A:173	(12.09, 38.80, 50.24)
9:99797050	rs138696108	G>E	A:175	(7.13, 40.08, 50.72)
9:99797043		N>K	A:177	(7.60, 34.01, 49.67)
9:99797044		N>S	A:177	(7.60, 34.01, 49.67)
9:99797041	COSM1111659	S>L	A:178	(11.83, 34.09, 50.36)
9:99797042		S>A	A:178	(11.83, 34.09, 50.36)
9:99797037		N>K	A:179	(11.95, 32.04, 46.98)
9:99795325		G>D	A:191	(22.51, 59.87, 41.75)
9:99795319		E>G	A:193	(18.81, 62.78, 42.21)
9:99795301		Y>C	A:199	(20.48, 52.57, 45.79)
9:99795280	rs147989421	K>R	A:206	(13.80, 35.86, 36.96)
9:99795278	rs370604384	N>D	A:207	(17.72, 33.67, 32.91)
9:99795270		H>Q	A:209	(17.11, 40.43, 33.96)
9:99795260	COSM199221	A>T	A:213	(26.07, 37.28, 36.62)
9:99795241		P>L	A:219	(38.31, 43.49, 45.36)
9:99795238	rs146846413	N>S	A:220	(41.47, 40.32, 46.28)

3KFQ.A | CTSV.

3KFQ.A | CTSV

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
9:99798935	COSM1625298	Q>R	A:51	(39.38, 61.31, 38.20)
9:99798917	COSM3927315	S>L	A:57	(43.77, 52.87, 34.16)
9:99797041	COSM1111659	S>L	A:178	(11.83, 34.09, 50.36)
9:99795313	COSM3930225	G>V	A:195	(15.40, 56.37, 41.39)