General Structure Information
| PDB ID | 3r8q |
| HGNC Gene Label(s) | FN1 |
| Structure Name | structure of fibronectin domain 12-14 |
| Resolution | 2.4Å |
| Reference | AUTH N.R.ZACCAI,C.AGNEW,R.L.BRADYTITL STRUCTURE OF FIBRONECTIN DOMAIN 12-14REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 271 |
| Number Of SNVs | 78 |
| Number Of Permutations | 28340 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.031 |
| p-value | 0.896 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 2:216244025 | T>I | A:6 | (31.08, -1.11, 31.59) | |
| 2:216244019 | L>R | A:8 | (30.81, -5.68, 26.56) | |
| 2:216243992 | S>T | A:17 | (32.60, -9.61, 11.70) | |
| 2:216243984 | A>T | A:20 | (31.28, -3.96, 20.02) | |
| 2:216243975 | T>S | A:23 | (30.17, 1.98, 29.16) | |
| 2:216243951 | G>R | A:31 | (43.19, 4.04, 25.29) | |
| 2:216243944 | R>Q | A:33 | (45.02, -4.29, 24.70) | |
| 2:216243938 | rs569874287 | R>Q | A:35 | (43.00, -10.18, 23.66) |
| 2:216243915 | G>R | A:43 | (44.74, -18.88, 13.94) | |
| 2:216243908 | M>R | A:45 | (45.99, -12.87, 17.59) | |
| 2:216243909 | M>V | A:45 | (45.99, -12.87, 17.59) | |
| 2:216243896 | N>S | A:49 | (45.48, -0.01, 19.17) | |
| 2:216243897 | rs372770694 | N>H | A:49 | (45.48, -0.01, 19.17) |
| 2:216243893 | L>H | A:50 | (41.03, 1.97, 19.90) | |
| 2:216243894 | L>F | A:50 | (41.03, 1.97, 19.90) | |
| 2:216243881 | S>T | A:54 | (36.37, 4.72, 21.97) | |
| 2:216243873 | rs369072643 COSM209959 |
V>M | A:57 | (34.75, -2.17, 17.85) |
| 2:216243867 | rs375667567 | V>L | A:59 | (36.73, -6.79, 14.50) |
| 2:216243854 | rs199684110 | M>T | A:63 | (38.66, -17.32, 11.12) |
| 2:216242984 | V>E | A:64 | (34.45, -18.63, 9.06) | |
| 2:216242985 | rs140412041 | V>M | A:64 | (34.45, -18.63, 9.06) |
| 2:216242981 | rs145050088 | A>V | A:65 | (33.18, -20.80, 12.10) |
| 2:216242976 | K>Q | A:67 | (34.66, -19.98, 19.92) | |
| 2:216242967 | V>L | A:70 | (36.68, -10.56, 23.17) | |
| 2:216242963 | S>N | A:71 | (39.63, -8.64, 25.40) | |
| 2:216242957 | rs199890235 | Y>C | A:73 | (42.67, -5.03, 27.80) |
| 2:216242949 | rs145946514 | K>E | A:76 | (46.00, 6.53, 32.02) |
| 2:216242942 | T>I | A:78 | (51.84, 2.85, 32.29) | |
| 2:216242943 | T>A | A:78 | (51.84, 2.85, 32.29) | |
| 2:216242918 | rs140152934 | G>V | A:86 | (33.93, -12.09, 25.52) |
| 2:216241391 | S>N | A:95 | (27.43, -14.91, -0.21) | |
| 2:216241388 | rs199769361 | P>L | A:96 | (25.62, -11.99, -1.35) |
| 2:216241376 | rs374112006 | A>V | A:100 | (19.60, -9.14, -9.16) |
| 2:216241377 | A>P | A:100 | (19.60, -9.14, -9.16) | |
| 2:216241374 | R>C | A:101 | (18.90, -8.05, -12.10) | |
| 2:216241367 | T>K | A:103 | (12.02, -10.79, -14.82) | |
| 2:216241359 | T>A | A:106 | (1.55, -9.02, -12.54) | |
| 2:216241347 | rs138593265 | I>F | A:110 | (6.94, -9.56, -8.49) |
| 2:216241343 | rs182139649 | T>N | A:111 | (9.35, -12.58, -11.24) |
| 2:216241316 | T>M | A:120 | (26.94, -24.27, 0.84) | |
| 2:216241293 | A>T | A:128 | (8.23, -7.37, 0.09) | |
| 2:216241280 | rs113228862 | N>S | A:132 | (1.45, 1.42, 1.14) |
| 2:216241271 | rs145621410 | T>I | A:135 | (2.64, -5.59, 5.82) |
| 2:216241251 | K>E | A:142 | (13.47, -24.44, -2.43) | |
| 2:216241248 | P>A | A:143 | (18.35, -24.08, -2.21) | |
| 2:216241241 | V>G | A:145 | (15.81, -21.46, -6.73) | |
| 2:216240426 | rs201136367 | T>S | A:157 | (2.13, -1.44, -5.50) |
| 2:216240423 | D>G | A:158 | (5.69, 0.85, -5.46) | |
| 2:216240421 | Y>H | A:159 | (6.05, -4.06, -3.57) | |
| 2:216240402 | T>I | A:165 | (21.87, -15.98, 1.06) | |
| 2:216240393 | D>G | A:168 | (22.48, -23.01, 8.12) | |
| 2:216240384 | R>Q | A:171 | (21.11, -12.29, 7.04) | |
| 2:216240385 | R>W | A:171 | (21.11, -12.29, 7.04) | |
| 2:216240382 | S>R | A:172 | (23.21, -12.31, 3.54) | |
| 2:216240375 | rs148388245 | P>H | A:174 | (20.41, -7.35, 1.74) |
| 2:216240372 | rs144412333 | V>A | A:175 | (20.08, -7.71, -2.77) |
| 2:216240364 | D>N | A:178 | (13.35, -1.40, -7.27) | |
| 2:216240361 | rs573992192 COSM85679 COSM1648310 |
A>T | A:179 | (9.19, -3.14, -8.32) |
| 2:216240113 | rs147592486 | I>T | A:183 | (-2.30, -0.66, -12.86) |
| 2:216240111 | rs201097962 | D>N | A:184 | (-6.07, -3.00, -11.31) |
| 2:216240101 | S>F | A:187 | (-14.64, -3.94, -13.67) | |
| 2:216240102 | S>P | A:187 | (-14.64, -3.94, -13.67) | |
| 2:216240092 | COSM4091106 COSM4091105 |
R>H | A:190 | (-22.21, -3.45, -17.28) |
| 2:216240083 | A>V | A:193 | (-27.36, 4.62, -21.83) | |
| 2:216240080 | T>N | A:194 | (-28.32, 4.14, -25.67) | |
| 2:216240047 | rs139452116 | P>L | A:205 | (-13.74, 0.27, -9.03) |
| 2:216240041 | rs146612279 | R>H | A:207 | (-7.47, -4.10, -5.63) |
| 2:216240042 | rs372237449 | R>C | A:207 | (-7.47, -4.10, -5.63) |
| 2:216240034 | rs369278895 COSM1016166 COSM1591856 |
R>S | A:209 | (-3.21, 3.95, -3.44) |
| 2:216240027 | G>S | A:212 | (-7.48, 7.88, -13.32) | |
| 2:216240020 | I>N | A:214 | (-8.27, 6.72, -20.36) | |
| 2:216239991 | P>S | A:224 | (-8.90, 5.30, -31.42) | |
| 2:216239982 | rs139724581 | V>L | A:227 | (-13.60, 10.85, -23.37) |
| 2:216239975 | P>R | A:229 | (-12.77, 14.99, -19.54) | |
| 2:216239972 | R>Q | A:230 | (-7.83, 11.72, -19.18) | |
| 2:216239973 | rs376754454 | R>W | A:230 | (-7.83, 11.72, -19.18) |
| 2:216239966 | COSM269188 | R>H | A:232 | (-13.40, 12.89, -11.06) |
| 2:216239967 | COSM1016164 | R>C | A:232 | (-13.40, 12.89, -11.06) |
| 2:216239963 | P>L | A:233 | (-10.49, 9.93, -9.13) | |
| 2:216239960 | G>V | A:234 | (-14.57, 8.14, -8.29) | |
| 2:216239939 | T>I | A:241 | (-20.70, 12.51, -27.12) | |
| 2:216238122 | COSM1016163 COSM1591857 |
G>V | A:246 | (-25.95, 2.46, -36.07) |
| 2:216238119 | T>I | A:247 | (-22.54, 2.54, -35.03) | |
| 2:216238117 | COSM174865 | E>K | A:248 | (-21.13, -1.80, -33.17) |
| 2:216238108 | I>V | A:251 | (-15.79, 1.09, -25.22) | |
| 2:216238083 | N>S | A:259 | (2.23, 8.37, -16.67) | |
| 2:216238068 | P>L | A:264 | (-7.90, -2.59, -21.53) | |
| 2:216238063 | I>V | A:266 | (-12.83, -4.23, -23.70) | |
| 2:216238050 | K>T | A:270 | (-25.51, -0.94, -32.38) |