3QP3.C | TTN – ASTRID

3QP3.C | TTN

General Structure Information

PDB ID	3qp3
HGNC Gene Label(s)	TTN
Structure Name	crystal structure of titin domain m4, tetragonal form
Resolution	2.0Å
Reference	AUTH F.SAUER,A.KOLODZIEJCZYK,M.WILMANNSTITL CRYSTAL STRUCTURE OF TITIN DOMAIN M4, TETRAGONAL FORMREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	97
Number Of SNVs	32
Number Of Permutations	3883
Optimal Distance Threshold	6.0
K Statistic	0.054
p-value	0.916

COSMIC

Number Of Residues	97
Number Of SNVs	3
Number Of Permutations	18
Optimal Distance Threshold	10.0
K Statistic	0.333
p-value	0.882

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	32
Number Of COSMIC SNVs	4
Optimal Distance Threshold	19.0
K Statistic	-0.294
p-value	0.564

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:179396527		D>H	C:6	(-14.36, 18.61, -6.91)
2:179396514		R>Q	C:10	(-22.14, 9.33, -5.71)
2:179396512	rs367770867	I>V	C:11	(-24.37, 6.15, -3.99)
2:179396496	rs375818056	R>H	C:16	(-30.27, -6.85, -1.74)
2:179396497	rs576270358 COSM1325723 COSM1325722 COSM1325719 COSM1325721 COSM1325720	R>C	C:16	(-30.27, -6.85, -1.74)
2:179396493		S>L	C:17	(-32.59, -4.88, 1.46)
2:179396479		C>G	C:22	(-30.14, -17.41, 11.94)
2:179396475	rs145748940	G>D	C:23	(-25.85, -17.75, 11.57)
2:179396464	COSM4087208 COSM4087207 COSM4087204 COSM4087206 COSM4087205	R>C	C:27	(-23.26, -8.62, 3.12)
2:179396457		I>N	C:29	(-22.27, -4.55, -1.45)
2:179396451		N>S	C:31	(-19.96, 2.21, -5.57)
2:179396452		N>Y	C:31	(-19.96, 2.21, -5.57)
2:179396428	COSM1722862 COSM1722861 COSM1722858 COSM1722860 COSM1722859	E>K	C:39	(-14.98, 10.93, 5.15)
2:179396409		N>S	C:45	(-30.40, 0.50, 14.52)
2:179396406	rs376634193	G>A	C:46	(-27.79, 4.81, 14.66)
2:179396389		S>G	C:52	(-15.16, -6.36, 15.11)
2:179396371		T>A	C:58	(-14.08, -2.86, 3.25)
2:179396364	rs368945564 COSM717523 COSM717527 COSM717526 COSM717522 COSM1148465 COSM1148464 COSM717525 COSM71752	T>M	C:60	(-12.07, -1.30, -2.80)
2:179396356		V>I	C:63	(-16.25, -0.98, -3.45)
2:179396353		L>V	C:64	(-18.25, 0.48, 0.19)
2:179396329	rs116876353	H>Y	C:72	(-27.37, -13.78, 16.35)
2:179396311	rs533966614	T>A	C:78	(-31.39, 0.14, 9.72)
2:179396304		R>H	C:80	(-26.72, 5.94, 7.52)
2:179396301		A>D	C:81	(-23.90, 4.39, 4.58)
2:179396293	rs368779151	T>A	C:84	(-18.44, 12.67, 3.66)
2:179396278	COSM258978 COSM258979 COSM258977 COSM258980	E>K	C:89	(-23.70, 13.70, 3.11)
2:179396272		S>A	C:91	(-26.86, 8.39, 2.44)
2:179396265		Y>C	C:93	(-30.72, 4.99, 4.90)
2:179396263		A>T	C:94	(-30.58, -0.94, 4.45)
2:179396259	rs56001826	T>M	C:95	(-33.15, -3.53, 5.81)
2:179396256		L>W	C:96	(-30.76, -7.36, 8.03)
2:179396253		D>G	C:97	(-34.87, -10.13, 8.04)
2:179396251	rs552058608	V>M	C:98	(-32.24, -12.06, 11.01)
2:179396244		G>E	C:100	(-35.84, -18.23, 11.14)

3QP3.C | TTN.

3QP3.C | 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
2:179396497	COSM1325722	R>C	C:16	(-30.27, -6.85, -1.74)
2:179396428	COSM1722861	E>K	C:39	(-14.98, 10.93, 5.15)
2:179396364	COSM1148465	T>K	C:60	(-12.07, -1.30, -2.80)
2:179396278	COSM258978	E>K	C:89	(-23.70, 13.70, 3.11)