1I0E.B | CKM – ASTRID

1I0E.B | CKM

General Structure Information

PDB ID	1i0e
HGNC Gene Label(s)	CKM
Structure Name	crystal structure of creatine kinase from human muscle
Resolution	3.5Å
Reference	AUTH Y.Q.SHEN,L.TANG,H.M.ZHOU,Z.J.LINTITL STRUCTURE OF HUMAN MUSCLE CREATINE KINASE.REF ACTA CRYSTALLOGR.,SECT.D V. 57 1196 2001REFN ISSN 0907-4449PMID 11517911

Variant Set Distributions

ExAC Variants

Number Of Residues	365
Number Of SNVs	99
Number Of Permutations	52794
Optimal Distance Threshold	9.0
K Statistic	0.032
p-value	0.54

COSMIC

Number Of Residues	365
Number Of SNVs	5
Number Of Permutations	210
Optimal Distance Threshold	12.0
K Statistic	0.2
p-value	0.322

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	99
Number Of COSMIC SNVs	4
Optimal Distance Threshold	32.0
K Statistic	0.368
p-value	0.859

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
19:45822941		K>E	B:11	(43.69, 34.61, 396.49)
19:45822938	rs373928921	L>M	B:12	(42.26, 31.58, 393.24)
19:45822928		K>T	B:15	(41.95, 38.01, 386.55)
19:45822929		K>E	B:15	(41.95, 38.01, 386.55)
19:45822926		P>T	B:16	(45.64, 35.03, 386.10)
19:45822920	COSM712358	E>Q	B:18	(45.50, 40.49, 388.13)
19:45822908		D>H	B:22	(57.23, 41.97, 385.53)
19:45822900		S>R	B:24	(60.64, 41.98, 381.82)
19:45822882	rs145633772	M>I	B:30	(61.40, 30.91, 385.85)
19:45822868	COSM3823408	T>N	B:35	(54.00, 31.33, 380.24)
19:45822869		T>A	B:35	(54.00, 31.33, 380.24)
19:45822854		K>E	B:40	(45.97, 30.29, 383.29)
19:45822844	rs372629132	R>Q	B:43	(46.42, 30.52, 389.55)
19:45822840	rs532075800	D>E	B:44	(45.06, 25.66, 390.67)
19:45822811	rs201470105 CM014698	D>G	B:54	(53.36, 31.75, 393.49)
19:45822807		D>E	B:55	(55.84, 29.04, 396.57)
19:45822809	rs201048164	D>N	B:55	(55.84, 29.04, 396.57)
19:45821231		P>R	B:67	(73.24, 38.80, 381.99)
19:45821222		M>K	B:70	(71.51, 31.81, 383.50)
19:45821210		C>Y	B:74	(63.34, 27.37, 390.88)
19:45821208		V>M	B:75	(62.95, 25.87, 394.58)
19:45821196		E>K	B:79	(59.45, 13.81, 396.38)
19:45821192		E>A	B:80	(55.46, 15.60, 396.09)
19:45821193		E>K	B:80	(55.46, 15.60, 396.09)
19:45821183	rs11559024	E>G	B:83	(55.22, 15.79, 389.73)
19:45821184	rs200170574 COSM1394582	E>K	B:83	(55.22, 15.79, 389.73)
19:45821174		K>R	B:86	(55.67, 17.27, 384.89)
19:45821159	rs369274678	P>R	B:91	(61.39, 22.50, 380.88)
19:45821160		P>S	B:91	(61.39, 22.50, 380.88)
19:45821145	rs560561184	R>C	B:96	(71.44, 23.50, 384.04)
19:45821139		G>R	B:98	(71.46, 18.89, 377.84)
19:45821135		G>D	B:99	(68.39, 17.97, 377.41)
19:45821132		Y>C	B:100	(67.51, 14.55, 381.23)
19:45821129		K>R	B:101	(64.51, 15.00, 377.07)
19:45821127		P>S	B:102	(61.15, 13.77, 379.88)
19:45821119	rs377387152	D>E	B:104	(66.27, 10.77, 379.24)
19:45821117		K>R	B:105	(66.34, 7.05, 382.01)
19:45821109		T>A	B:108	(73.01, 5.75, 390.43)
19:45821105		D>G	B:109	(77.68, 3.58, 390.15)
19:45821087		L>P	B:115	(86.99, 4.80, 389.83)
19:45818846		D>N	B:120	(97.35, 7.82, 392.32)
19:45818815		R>H	B:130	(85.95, 18.43, 396.64)
19:45818813	rs200253404 COSM1743025	V>I	B:131	(83.41, 14.26, 396.78)
19:45818809	rs147574145	R>H	B:132	(80.37, 19.05, 397.41)
19:45818800	rs370269966	R>H	B:135	(71.82, 12.65, 399.29)
19:45818801		R>C	B:135	(71.82, 12.65, 399.29)
19:45818798		S>G	B:136	(66.72, 14.34, 400.59)
19:45818795		I>V	B:137	(65.52, 12.55, 404.42)
19:45818788		G>D	B:139	(58.79, 12.68, 404.52)
19:45818789	rs367804619	G>S	B:139	(58.79, 12.68, 404.52)
19:45818782		T>M	B:141	(59.51, 19.13, 403.57)
19:45818783		T>P	B:141	(59.51, 19.13, 403.57)
19:45818773		P>L	B:144	(62.43, 25.53, 400.85)
19:45818774	rs546491801	P>S	B:144	(62.43, 25.53, 400.85)
19:45818761		R>H	B:148	(60.00, 26.06, 413.55)
19:45818752	rs377002933	R>H	B:151	(64.30, 22.69, 410.37)
19:45818749	rs146705516	R>Q	B:152	(63.44, 21.07, 415.57)
19:45818750	rs149872015	R>W	B:152	(63.44, 21.07, 415.57)
19:45818746	rs190519310	A>V	B:153	(63.50, 15.46, 412.71)
19:45818737		K>R	B:156	(66.35, 13.07, 416.26)
19:45818723		A>T	B:161	(72.60, 8.02, 412.31)
19:45815163	rs17357122	T>M	B:166	(81.71, 2.99, 413.84)
19:45815161		G>R	B:167	(85.08, 3.37, 412.71)
19:45815145	rs141322657	K>T	B:172	(81.21, 15.33, 417.62)
19:45815095		D>N	B:189	(90.50, 27.96, 410.05)
19:45815067		V>G	B:198	(73.56, 35.50, 403.57)
19:45815068	rs138317169	V>M	B:198	(73.56, 35.50, 403.57)
19:45815061	rs529413092	P>L	B:200	(70.94, 38.24, 398.08)
19:45815062		P>S	B:200	(70.94, 38.24, 398.08)
19:45815035	COSM389305	R>C	B:209	(62.65, 29.53, 407.71)
19:45815030		D>E	B:210	(64.21, 29.49, 412.19)
19:45815023		D>N	B:213	(66.97, 25.79, 414.94)
19:45815017	rs546735171	R>C	B:215	(70.21, 24.69, 410.86)
19:45815010	rs373872310	I>N	B:217	(78.73, 20.58, 411.31)
19:45811785		N>I	B:220	(85.58, 12.34, 410.90)
19:45811773		S>T	B:224	(87.68, 13.08, 406.21)
19:45811737	rs367853842	R>Q	B:236	(76.43, 20.01, 401.75)
19:45811716	rs17875625	G>A	B:243	(96.32, 16.18, 397.88)
19:45811714		G>C	B:244	(95.42, 13.36, 395.50)
19:45811700		E>D	B:248	(90.76, 6.55, 399.51)
19:45811692	rs149354459	R>P	B:251	(86.92, 4.60, 400.39)
19:45811693		R>S	B:251	(86.92, 4.60, 400.39)
19:45811690		R>C	B:252	(86.67, 8.42, 402.82)
19:45811680		V>A	B:255	(81.33, 3.72, 402.21)
19:45811675		L>M	B:257	(76.86, 7.85, 401.30)
19:45811671		Q>P	B:258	(77.09, 1.99, 401.93)
19:45810907		I>T	B:260	(74.32, 7.33, 406.18)
19:45810903		E>D	B:261	(70.89, 5.10, 402.35)
19:45810886	rs138693691	A>D	B:267	(64.02, 4.02, 409.88)
19:45810887		A>T	B:267	(64.02, 4.02, 409.88)
19:45810871	COSM998170	M>T	B:272	(64.18, 11.71, 398.23)
19:45810862	rs200633759	Q>R	B:275	(63.93, 6.11, 387.53)
19:45810850	rs201697202	Y>C	B:279	(69.89, 10.61, 394.52)
19:45810847		V>A	B:280	(65.46, 14.64, 394.96)
19:45810829		N>I	B:286	(72.51, 19.91, 392.19)
19:45810791	rs150271912	L>V	B:299	(97.29, 24.71, 386.25)
19:45810787		A>V	B:300	(100.69, 28.23, 386.20)
19:45810761	rs374105815	E>Q	B:309	(88.07, 27.83, 378.66)
19:45810756	COSM3769673 COSM3535884	E>D	B:310	(88.19, 24.03, 373.65)
19:45810754		I>N	B:311	(91.10, 22.05, 377.13)
19:45810722		T>A	B:322	(90.98, 29.75, 394.65)
19:45810154		F>I	B:334	(92.57, 27.19, 388.84)
19:45810148	rs571861320	V>L	B:336	(88.43, 21.51, 388.84)
19:45810141	COSM1712500	N>S	B:338	(81.93, 17.49, 387.88)
19:45810123	COSM1712499	S>L	B:344	(75.96, 11.10, 384.42)
19:45810121		S>T	B:345	(77.32, 8.20, 387.08)
19:45810108	rs199913939	Q>R	B:349	(80.26, 12.33, 387.22)
19:45810094		V>M	B:354	(90.62, 11.38, 387.04)
19:45810087	COSM1201249	G>D	B:356	(91.30, 15.25, 383.05)
19:45810075	rs76072092	M>T	B:360	(94.85, 19.62, 382.98)
19:45810051		E>G	B:368	(106.81, 22.93, 383.08)
19:45810052	COSM459938	E>K	B:368	(106.81, 22.93, 383.08)
19:45810040		S>P	B:372	(103.59, 21.79, 372.03)
19:45810021		P>R	B:378	(84.28, 16.77, 373.28)
19:45810022	rs560579155	P>S	B:378	(84.28, 16.77, 373.28)
19:45810014		Q>H	B:380	(86.83, 11.99, 378.15)

1I0E.B | CKM.

1I0E.B | CKM

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
19:45821144	COSM2157082	R>H	B:96	(71.44, 23.50, 384.04)
19:45818813	COSM1743025	V>I	B:131	(83.41, 14.26, 396.78)
19:45815077	COSM3422927	D>N	B:195	(77.75, 30.70, 407.21)
19:45810883	COSM998171	G>D	B:268	(61.89, 4.86, 407.15)
19:45810133	COSM3378772	R>W	B:341	(75.81, 17.50, 388.35)