2F8V.A | TTN – ASTRID

2F8V.A | TTN

General Structure Information

PDB ID	2f8v
HGNC Gene Label(s)	TTN
Structure Name	structure of full length telethonin in complex with the n-terminus of titin
Resolution	2.75Å
Reference	AUTH N.PINOTSIS,M.PETOUKHOV,S.LANGE,D.SVERGUN,P.ZOU,M.GAUTEL,AUTH 2 M.WILMANNSTITL EVIDENCE FOR A DIMERIC ASSEMBLY OF TWO TITIN/TELETHONINTITL 2 COMPLEXES INDUCED BY THE TELETHONIN C-TERMINUS.REF J.STRUCT.BIOL. V. 155 239 2006REFN ISSN 1047-8477PMID 16713295DOI 10.1016/J.JSB.2006.03.028

Variant Set Distributions

ExAC Variants

Number Of Residues	194
Number Of SNVs	61
Number Of Permutations	48188
Optimal Distance Threshold	32.0
K Statistic	0.562
p-value	0.515

COSMIC

Number Of Residues	194
Number Of SNVs	10
Number Of Permutations	4005
Optimal Distance Threshold	17.0
K Statistic	0.089
p-value	0.24

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	61
Number Of COSMIC SNVs	9
Optimal Distance Threshold	11.0
K Statistic	-0.108
p-value	0.253

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:179669357	rs552620474	A>T	A:5	(-5.53, 43.00, 15.62)
2:179669351		T>A	A:7	(-2.37, 44.73, 20.57)
2:179669344	rs146123323	T>M	A:9	(-1.52, 47.25, 26.37)
2:179669338	COSM1013430 COSM1013429 COSM1013428 COSM1013426 COSM1013431	P>L	A:11	(4.61, 44.61, 26.97)
2:179669329		S>I	A:14	(12.93, 42.02, 31.71)
2:179669327	rs201857541 COSM3743446 COSM3743445 COSM3743442 COSM3743444 COSM3743443 COSM3743447	V>I	A:15	(12.76, 39.07, 34.71)
2:179669324		V>M	A:16	(16.12, 39.74, 37.43)
2:179669317	rs140459891	L>R	A:18	(17.23, 35.26, 43.45)
2:179669313		E>D	A:19	(19.47, 30.18, 42.11)
2:179669303	rs147812158	A>T	A:23	(9.51, 33.73, 37.75)
2:179669300		T>P	A:24	(6.47, 36.17, 36.59)
2:179669290		A>V	A:27	(0.89, 40.45, 29.52)
2:179669288	COSM3574570 COSM3574569 COSM3574566 COSM3574568 COSM3574567 COSM3574571	H>D	A:28	(-1.72, 43.28, 29.96)
2:179669281		S>N	A:30	(-5.83, 43.58, 22.74)
2:179667056		P>L	A:35	(-6.06, 35.96, 20.60)
2:179667057		P>A	A:35	(-6.06, 35.96, 20.60)
2:179667036		D>N	A:42	(15.83, 30.10, 23.39)
2:179667027	rs142028110	V>L	A:45	(7.69, 25.37, 22.40)
2:179667014	rs368887734	S>F	A:49	(8.87, 18.70, 29.02)
2:179667015	rs531066665	S>P	A:49	(8.87, 18.70, 29.02)
2:179667005		P>R	A:52	(9.94, 21.61, 34.78)
2:179667003	rs150902810	G>S	A:53	(6.13, 23.46, 36.44)
2:179667000	rs139517732	V>M	A:54	(5.51, 25.58, 33.82)
2:179666981		D>V	A:60	(-9.69, 39.62, 31.20)
2:179666975		R>H	A:62	(-3.66, 39.14, 33.43)
2:179666976	COSM3962015 COSM130007 COSM3962013 COSM130008 COSM3962014 COSM130006	R>C	A:62	(-3.66, 39.14, 33.43)
2:179666972		A>V	A:63	(-0.89, 36.87, 30.06)
2:179666973	COSM165293 COSM165294 COSM165291 COSM165292	A>T	A:63	(-0.89, 36.87, 30.06)
2:179666963	rs372755739 COSM2709775 COSM2709774 COSM2709771 COSM2709773 COSM2709772 COSM2709776	T>M	A:66	(4.69, 30.71, 36.46)
2:179666952		V>M	A:70	(14.26, 29.28, 38.67)
2:179666939		N>S	A:74	(15.90, 28.30, 33.46)
2:179666933	rs138750421	G>A	A:76	(16.50, 33.49, 28.38)
2:179666934		G>R	A:76	(16.50, 33.49, 28.38)
2:179666930	COSM3771205 COSM3771204 COSM3771201 COSM3771203 COSM3771202 COSM3771206	R>Q	A:77	(15.90, 36.16, 24.17)
2:179666925		S>T	A:79	(8.45, 34.60, 23.53)
2:179666908	rs142851233	N>K	A:84	(-6.39, 37.01, 15.02)
2:179666906	COSM1691621 COSM1691620 COSM1691617 COSM1691619 COSM1691618 COSM1691622	G>E	A:85	(-7.31, 36.85, 11.32)
2:179666903	COSM3574558 COSM3574557 COSM3574554 COSM3574556 COSM3574555 COSM3574559	S>Y	A:86	(-6.50, 40.19, 11.49)
2:179666886		T>S	A:92	(10.60, 39.49, 23.32)
2:179666877		L>F	A:95	(15.16, 35.01, 32.61)
2:179666871	rs185921345	V>M	A:97	(18.97, 33.65, 37.17)
2:179665404	rs138945705	T>A	A:101	(25.08, 35.70, 46.96)
2:179665395		P>S	A:104	(31.62, 37.32, 54.23)
2:179665392		N>H	A:105	(28.82, 37.52, 58.67)
2:179665386		V>I	A:107	(27.70, 35.34, 63.79)
2:179665379	COSM1403661 COSM1403660 COSM1403657 COSM1403659 COSM1403658 COSM1403662	R>Q	A:109	(32.60, 39.96, 65.97)
2:179665364		T>N	A:114	(44.22, 38.47, 79.70)
2:179665362	rs564777385 COSM21083	V>M	A:115	(45.68, 34.53, 80.12)
2:179665358	rs569775318	R>T	A:116	(48.25, 33.11, 84.87)
2:179665346		Q>R	A:120	(43.70, 25.36, 77.18)
2:179665332	rs368101663	V>L	A:125	(35.07, 32.40, 64.84)
2:179665326		V>M	A:127	(31.86, 32.39, 59.41)
2:179665313		P>L	A:131	(30.35, 31.52, 48.13)
2:179665304		V>G	A:134	(38.39, 30.91, 52.53)
2:179665289		R>Q	A:139	(51.38, 36.24, 65.92)
2:179665290	COSM1231201 COSM1231200 COSM1231197 COSM1231199 COSM1231198 COSM1231202	R>W	A:139	(51.38, 36.24, 65.92)
2:179665283		G>E	A:141	(50.34, 38.78, 59.81)
2:179665284		G>R	A:141	(50.34, 38.78, 59.81)
2:179665281	COSM3574532 COSM3574531 COSM3574528 COSM3574530 COSM3574529 COSM3574533	A>T	A:142	(51.32, 35.70, 60.26)
2:179665278	COSM3574526 COSM3574525 COSM3574522 COSM3574524 COSM3574523 COSM3574527	E>K	A:143	(49.04, 31.93, 57.53)
2:179665229		Y>C	A:159	(35.68, 28.26, 61.23)
2:179665220	rs145438758	L>Q	A:162	(43.41, 24.89, 70.90)
2:179665221		L>V	A:162	(43.41, 24.89, 70.90)
2:179665166	rs568119356	N>S	A:180	(33.68, 35.53, 49.06)
2:179665163	rs72647843	S>N	A:181	(33.21, 36.10, 45.18)
2:179665160		V>A	A:182	(30.89, 38.59, 46.99)
2:179665161	rs370941860	V>I	A:182	(30.89, 38.59, 46.99)
2:179665158		G>R	A:183	(33.76, 39.16, 49.84)
2:179665145		S>L	A:187	(38.17, 39.50, 63.30)
2:179665122		G>S	A:195	(53.71, 36.09, 83.84)

2F8V.A | TTN.

2F8V.A | TTN

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
2:179669350	COSM208753	T>M	A:7	(-2.37, 44.73, 20.57)
2:179666976	COSM3962015	R>C	A:62	(-3.66, 39.14, 33.43)
2:179666973	COSM165294	A>T	A:63	(-0.89, 36.87, 30.06)
2:179666955	COSM4089322	A>T	A:69	(12.38, 26.73, 40.75)
2:179666930	COSM3771202	R>Q	A:77	(15.90, 36.16, 24.17)
2:179666924	COSM3574561	S>F	A:79	(8.45, 34.60, 23.53)
2:179665379	COSM1403661	R>Q	A:109	(32.60, 39.96, 65.97)
2:179665352	COSM1691609	G>E	A:118	(50.02, 27.61, 80.70)
2:179665314	COSM1691599	P>S	A:131	(30.35, 31.52, 48.13)
2:179665278	COSM3574522	E>K	A:143	(49.04, 31.93, 57.53)
2:179665240	COSM1613974	E>D	A:155	(32.39, 22.02, 64.73)