General Structure Information
| PDB ID | 4hzs |
| HGNC Gene Label(s) | TNK2 |
| Structure Name | crystal structure of ack1 kinase domain with c-terminal sh3 domain |
| Resolution | 3.23Å |
| Reference | AUTH K.S.GAJIWALA,K.MAEGLEY,R.FERRE,Y.A.HE,X.YUTITL ACK1: ACTIVATION AND REGULATION BY ALLOSTERY.REF PLOS ONE V. 8 53994 2013REFN ESSN 1932-6203PMID 23342057DOI 10.1371/JOURNAL.PONE.0053994 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 319 |
| Number Of SNVs | 98 |
| Number Of Permutations | 24606 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.081 |
| p-value | 0.544 |
COSMIC
| Number Of Residues | 319 |
| Number Of SNVs | 4 |
| Number Of Permutations | 388 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | 0.167 |
| p-value | 0.59 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 98 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | -0.329 |
| p-value | 0.327 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:195611796 | Q>E | B:115 | (21.46, -13.09, 99.15) | |
| 3:195611792 | S>I | B:116 | (23.41, -17.72, 100.56) | |
| 3:195611793 | S>G | B:116 | (23.41, -17.72, 100.56) | |
| 3:195611786 | T>S | B:118 | (21.77, -23.59, 97.68) | |
| 3:195611777 | I>T | B:121 | (30.60, -27.55, 95.03) | |
| 3:195611774 | rs55647828 | G>A | B:122 | (33.98, -28.46, 97.13) |
| 3:195611771 | E>A | B:123 | (38.12, -27.66, 95.21) | |
| 3:195611760 | rs368727352 | R>C | B:127 | (38.09, -35.06, 90.49) |
| 3:195611757 | L>F | B:128 | (39.34, -30.36, 86.47) | |
| 3:195611724 | V>M | B:139 | (37.21, -22.56, 79.81) | |
| 3:195611720 | V>A | B:140 | (34.40, -25.88, 79.17) | |
| 3:195611717 | R>H | B:141 | (38.59, -28.16, 81.44) | |
| 3:195611718 | R>C | B:141 | (38.59, -28.16, 81.44) | |
| 3:195611709 | rs200819943 | E>K | B:144 | (35.28, -36.97, 87.84) |
| 3:195611702 | D>A | B:146 | (32.65, -36.42, 94.50) | |
| 3:195611699 | A>V | B:147 | (28.08, -36.49, 95.47) | |
| 3:195611700 | rs138590895 | A>T | B:147 | (28.08, -36.49, 95.47) |
| 3:195611684 | rs56161912 | T>M | B:152 | (31.24, -40.29, 90.82) |
| 3:195610179 | V>A | B:153 | (28.79, -37.41, 88.65) | |
| 3:195610174 | COSM583057 COSM1143222 COSM583056 |
V>M | B:155 | (30.68, -32.99, 85.53) |
| 3:195610150 | D>N | B:163 | (37.28, -13.40, 89.86) | |
| 3:195610144 | L>V | B:165 | (32.26, -12.13, 90.36) | |
| 3:195610139 | S>R | B:166 | (34.43, -8.74, 92.90) | |
| 3:195610126 | M>V | B:171 | (28.93, -11.91, 94.30) | |
| 3:195610121 | rs55636345 | D>E | B:172 | (24.75, -10.42, 95.89) |
| 3:195610120 | D>N | B:173 | (23.52, -10.09, 91.16) | |
| 3:195610110 | COSM379333 COSM379332 |
R>Q | B:176 | (19.56, -13.01, 92.20) |
| 3:195610111 | rs184412835 | R>W | B:176 | (19.56, -13.01, 92.20) |
| 3:195610095 | M>T | B:181 | (20.02, -21.54, 87.58) | |
| 3:195610093 | H>Y | B:182 | (20.24, -25.66, 92.14) | |
| 3:195610089 | rs377632238 | S>W | B:183 | (15.78, -24.39, 91.35) |
| 3:195610084 | D>N | B:185 | (14.04, -30.10, 87.50) | |
| 3:195610077 | R>Q | B:187 | (12.91, -34.57, 79.89) | |
| 3:195610073 | rs374213988 | N>K | B:188 | (14.21, -30.70, 77.96) |
| 3:195610059 | Y>C | B:193 | (24.58, -31.07, 89.06) | |
| 3:195610056 | G>E | B:194 | (26.96, -26.05, 91.12) | |
| 3:195610054 | V>M | B:195 | (29.05, -23.06, 92.54) | |
| 3:195610044 | T>M | B:198 | (37.55, -21.39, 96.09) | |
| 3:195610041 | P>L | B:199 | (39.34, -18.72, 94.04) | |
| 3:195610042 | P>S | B:199 | (39.34, -18.72, 94.04) | |
| 3:195609193 | rs550978754 | E>Q | B:206 | (23.85, -32.20, 83.14) |
| 3:195609180 | rs372035229 | L>Q | B:210 | (26.31, -36.64, 72.11) |
| 3:195609177 | G>E | B:211 | (26.79, -32.29, 72.35) | |
| 3:195609174 | COSM1685943 COSM3591815 COSM1685942 COSM1685941 |
S>L | B:212 | (26.62, -29.53, 70.07) |
| 3:195609168 | L>S | B:214 | (25.40, -26.63, 65.88) | |
| 3:195609164 | rs143587665 | D>E | B:215 | (28.85, -29.12, 66.39) |
| 3:195609162 | rs199724610 | R>Q | B:216 | (27.68, -33.19, 66.34) |
| 3:195609156 | R>H | B:218 | (28.12, -26.60, 61.71) | |
| 3:195609141 | H>L | B:223 | (23.14, -36.52, 54.69) | |
| 3:195609123 | L>R | B:229 | (15.57, -31.73, 63.34) | |
| 3:195609117 | rs540529215 | R>H | B:231 | (10.45, -35.70, 66.58) |
| 3:195609112 | A>T | B:233 | (11.73, -28.60, 68.27) | |
| 3:195609099 | A>V | B:237 | (9.49, -25.85, 73.48) | |
| 3:195609097 | E>K | B:238 | (8.18, -29.14, 76.17) | |
| 3:195609084 | Y>C | B:242 | (10.27, -25.48, 83.72) | |
| 3:195609081 | rs375858242 | L>P | B:243 | (12.40, -21.67, 81.79) |
| 3:195609075 | S>F | B:245 | (6.46, -21.34, 84.29) | |
| 3:195609069 | rs148932803 | R>H | B:247 | (7.71, -15.37, 86.48) |
| 3:195609070 | R>C | B:247 | (7.71, -15.37, 86.48) | |
| 3:195609057 | R>H | B:251 | (18.59, -12.52, 79.07) | |
| 3:195609058 | R>C | B:251 | (18.59, -12.52, 79.07) | |
| 3:195609049 | A>T | B:254 | (20.85, -21.01, 70.43) | |
| 3:195609043 | R>C | B:256 | (25.37, -21.11, 70.87) | |
| 3:195609039 | N>S | B:257 | (23.14, -23.31, 73.99) | |
| 3:195609031 | L>V | B:260 | (22.46, -34.28, 72.00) | |
| 3:195609021 | R>H | B:263 | (20.83, -39.84, 68.39) | |
| 3:195609022 | R>C | B:263 | (20.83, -39.84, 68.39) | |
| 3:195609015 | L>P | B:265 | (16.98, -36.07, 75.36) | |
| 3:195609004 | G>R | B:269 | (21.66, -24.32, 77.83) | |
| 3:195608985 | COSM1042984 COSM1154126 |
R>Q | B:275 | (20.10, -12.88, 84.30) |
| 3:195608983 | A>P | B:276 | (25.41, -13.57, 86.28) | |
| 3:195606041 | A>V | B:298 | (15.20, -8.76, 68.88) | |
| 3:195606036 | COSM1421951 COSM1421950 COSM1421949 |
E>K | B:300 | (13.01, -5.61, 71.21) |
| 3:195606021 | R>C | B:305 | (20.72, -3.28, 75.18) | |
| 3:195606018 | T>A | B:306 | (14.54, -5.11, 76.32) | |
| 3:195606009 | H>Y | B:309 | (9.43, -14.62, 78.75) | |
| 3:195606003 | S>G | B:311 | (13.08, -12.21, 73.35) | |
| 3:195605985 | G>R | B:317 | (13.62, -19.02, 65.65) | |
| 3:195605960 | T>S | B:325 | (19.98, -24.57, 57.84) | |
| 3:195605957 | Y>C | B:326 | (20.81, -29.40, 57.55) | |
| 3:195605955 | rs200104049 | G>S | B:327 | (23.95, -24.88, 60.66) |
| 3:195605937 | G>S | B:333 | (29.10, -10.51, 59.58) | |
| 3:195605453 | K>R | B:342 | (18.31, -6.34, 56.92) | |
| 3:195605454 | rs200412744 | K>E | B:342 | (18.31, -6.34, 56.92) |
| 3:195605451 | I>V | B:343 | (15.15, -6.90, 61.34) | |
| 3:195605445 | rs373491945 | K>Q | B:345 | (13.31, 0.53, 58.53) |
| 3:195605439 | G>W | B:347 | (11.55, -6.48, 56.97) | |
| 3:195605432 | COSM241970 COSM241971 |
R>Q | B:349 | (12.27, -11.11, 58.83) |
| 3:195605433 | R>W | B:349 | (12.27, -11.11, 58.83) | |
| 3:195605429 | L>P | B:350 | (15.85, -15.47, 58.15) | |
| 3:195605418 | E>K | B:354 | (16.45, -26.54, 50.69) | |
| 3:195605413 | D>E | B:355 | (15.14, -29.42, 53.42) | |
| 3:195605390 | rs370013968 | V>A | B:363 | (6.19, -21.41, 63.47) |
| 3:195605368 | H>Q | B:370 | (8.32, -5.50, 65.31) | |
| 3:195605353 | rs200483577 | R>S | B:375 | (6.94, -11.99, 69.59) |
| 3:195605217 | A>V | B:388 | (4.13, -29.36, 61.97) | |
| 3:195605203 | M>L | B:393 | (4.16, -40.92, 53.06) | |
| 3:195605199 | R>Q | B:394 | (4.39, -47.49, 52.51) | |
| 3:195605200 | R>W | B:394 | (4.39, -47.49, 52.51) | |
| 3:195605190 | Q>R | B:397 | (6.66, -47.54, 43.00) | |
| 3:195605175 | rs148791867 | P>L | B:402 | (19.11, -39.36, 36.88) |
| 3:195605171 | D>E | B:403 | (19.62, -35.86, 39.34) | |
| 3:195605136 | V>G | B:415 | (6.86, -35.33, 52.82) | |
| 3:195599332 | rs145954545 | N>K | B:422 | (2.65, -30.62, 41.89) |
| 3:195599334 | N>Y | B:422 | (2.65, -30.62, 41.89) | |
| 3:195599321 | rs369790528 | R>H | B:426 | (12.07, -31.80, 48.28) |
| 3:195599307 | rs139128052 | R>W | B:431 | (16.89, -46.70, 53.27) |
| 3:195599288 | P>L | B:437 | (13.23, -34.86, 43.86) | |
| 3:195599282 | P>L | B:439 | (7.46, -39.26, 41.93) | |
| 3:195599267 | T>I | B:444 | (0.25, -42.67, 45.20) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:195609174 | COSM1685942 | S>L | B:212 | (26.62, -29.53, 70.07) |
| 3:195609019 | COSM4948068 | D>N | B:264 | (15.80, -39.73, 71.56) |
| 3:195606036 | COSM1421951 | E>K | B:300 | (13.01, -5.61, 71.21) |
| 3:195605456 | COSM3660440 | H>L | B:341 | (18.30, -1.14, 58.12) |
| 3:195605334 | COSM4149786 | R>G | B:382 | (3.85, -28.00, 72.90) |
| 3:195605153 | COSM20528 | M>I | B:409 | (8.63, -51.15, 47.99) |