General Structure Information
| PDB ID | 3d42 |
| HGNC Gene Label(s) | PTPN7 |
| Structure Name | crystal structure of heptp in complex with a monophosphorylated erk2 peptide |
| Resolution | 2.46Å |
| Reference | AUTH D.A.CRITTON,A.TORTAJADA,G.STETSON,W.PETI,R.PAGETITL STRUCTURAL BASIS OF SUBSTRATE RECOGNITION BY HEMATOPOIETICTITL 2 TYROSINE PHOSPHATASE.REF BIOCHEMISTRY V. 47 13336 2008REFN ISSN 0006-2960PMID 19053285DOI 10.1021/BI801724N |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 289 |
| Number Of SNVs | 78 |
| Number Of Permutations | 38071 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.021 |
| p-value | 0.419 |
COSMIC
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:202127349 | COSM1737237 | R>Q | A:47 | (-6.74, -2.09, -10.01) |
| 1:202127350 | R>W | A:47 | (-6.74, -2.09, -10.01) | |
| 1:202127340 | T>I | A:50 | (-9.34, 0.90, -5.86) | |
| 1:202127328 | L>P | A:54 | (-15.06, 2.23, -6.31) | |
| 1:202127325 | COSM1263371 | R>H | A:55 | (-16.54, -3.01, -7.29) |
| 1:202127326 | rs372590798 | R>C | A:55 | (-16.54, -3.01, -7.29) |
| 1:202127301 | R>H | A:63 | (-36.86, 14.34, -0.15) | |
| 1:202127302 | rs369599628 COSM3700577 COSM3700576 |
R>C | A:63 | (-36.86, 14.34, -0.15) |
| 1:202127295 | rs149201621 | A>V | A:65 | (-31.43, 14.42, 5.05) |
| 1:202127286 | R>H | A:68 | (-35.17, 20.00, 6.11) | |
| 1:202127287 | R>C | A:68 | (-35.17, 20.00, 6.11) | |
| 1:202127278 | P>S | A:71 | (-23.80, 15.98, 5.27) | |
| 1:202126928 | S>R | A:89 | (-1.17, 4.48, -16.64) | |
| 1:202126927 | rs553027520 | P>S | A:90 | (0.40, 5.75, -19.47) |
| 1:202126900 | rs149783764 | A>T | A:99 | (-1.16, 10.55, -27.70) |
| 1:202126888 | R>G | A:103 | (-7.41, 18.40, -25.13) | |
| 1:202126881 | K>R | A:105 | (-0.19, 13.97, -21.20) | |
| 1:202126879 | T>A | A:106 | (-3.11, 13.32, -17.13) | |
| 1:202126875 | I>T | A:107 | (-6.79, 12.61, -18.64) | |
| 1:202124727 | S>R | A:113 | (-15.05, 1.50, -20.74) | |
| 1:202124725 | rs202124558 | R>H | A:114 | (-11.55, 1.66, -25.46) |
| 1:202124719 | rs200047109 | C>Y | A:116 | (-14.16, 1.26, -29.88) |
| 1:202124710 | R>Q | A:119 | (-12.21, -0.67, -40.41) | |
| 1:202124711 | rs139750906 | R>W | A:119 | (-12.21, -0.67, -40.41) |
| 1:202124704 | Q>R | A:121 | (-12.21, 7.24, -40.40) | |
| 1:202124697 | Q>H | A:123 | (-7.74, 7.79, -43.27) | |
| 1:202124698 | Q>P | A:123 | (-7.74, 7.79, -43.27) | |
| 1:202124680 | I>N | A:129 | (-12.04, 8.10, -28.82) | |
| 1:202124677 | N>S | A:130 | (-10.42, 10.13, -24.60) | |
| 1:202124662 | rs368406422 | R>Q | A:135 | (-23.21, 1.07, -15.24) |
| 1:202123442 | G>R | A:139 | (-26.34, 0.16, -13.97) | |
| 1:202123431 | K>N | A:142 | (-23.59, 1.46, -23.23) | |
| 1:202123418 | T>S | A:147 | (-15.70, 12.77, -24.16) | |
| 1:202123390 | rs141900007 | S>L | A:156 | (-13.86, 12.83, -37.61) |
| 1:202123391 | S>P | A:156 | (-13.86, 12.83, -37.61) | |
| 1:202123387 | D>A | A:157 | (-12.66, 10.48, -34.42) | |
| 1:202123354 | S>F | A:168 | (-29.64, 11.69, -30.13) | |
| 1:202123352 | L>F | A:169 | (-28.35, 14.23, -26.69) | |
| 1:202123342 | M>K | A:172 | (-20.92, 21.43, -24.59) | |
| 1:202123327 | R>Q | A:177 | (-13.23, 30.78, -22.77) | |
| 1:202122959 | C>Y | A:183 | (-11.76, 24.16, -27.48) | |
| 1:202122956 | rs145765292 | V>G | A:184 | (-12.46, 23.07, -31.73) |
| 1:202122923 | G>E | A:195 | (-14.98, 13.49, -43.45) | |
| 1:202122909 | rs527845505 | R>C | A:200 | (-26.70, 20.76, -41.60) |
| 1:202122900 | rs200690695 | D>N | A:203 | (-33.10, 24.40, -35.75) |
| 1:202122896 | rs201568746 | M>T | A:204 | (-29.75, 28.25, -32.97) |
| 1:202122885 | P>S | A:208 | (-30.93, 31.91, -20.66) | |
| 1:202122869 | rs114793093 | R>Q | A:213 | (-26.62, 24.52, -31.65) |
| 1:202122870 | R>W | A:213 | (-26.62, 24.52, -31.65) | |
| 1:202122865 | rs140221360 | Q>H | A:214 | (-31.72, 20.49, -33.54) |
| 1:202121824 | Q>K | A:220 | (-23.00, 6.97, -47.23) | |
| 1:202121821 | E>Q | A:221 | (-27.82, 8.15, -48.07) | |
| 1:202121815 | rs145836569 | R>C | A:223 | (-30.25, 12.29, -44.63) |
| 1:202121812 | R>W | A:224 | (-28.44, 9.26, -38.27) | |
| 1:202121806 | V>I | A:226 | (-28.10, 15.38, -33.43) | |
| 1:202121794 | rs374419113 | L>V | A:230 | (-23.54, 24.93, -25.35) |
| 1:202121787 | S>L | A:232 | (-21.88, 28.54, -20.97) | |
| 1:202121779 | P>S | A:235 | (-15.88, 27.13, -14.74) | |
| 1:202121752 | G>R | A:244 | (-30.83, 26.25, -11.85) | |
| 1:202121749 | P>A | A:245 | (-29.33, 26.93, -14.50) | |
| 1:202121739 | COSM902295 | R>H | A:248 | (-33.41, 25.65, -15.67) |
| 1:202121740 | rs145206424 | R>C | A:248 | (-33.41, 25.65, -15.67) |
| 1:202121733 | V>A | A:250 | (-31.50, 18.10, -16.28) | |
| 1:202121712 | P>L | A:257 | (-36.91, 13.41, -28.02) | |
| 1:202121701 | A>T | A:261 | (-33.22, 3.18, -34.33) | |
| 1:202121694 | P>L | A:263 | (-31.60, 3.07, -27.89) | |
| 1:202121688 | rs140588061 | P>L | A:265 | (-25.36, 6.72, -25.97) |
| 1:202121685 | rs375757874 | I>T | A:266 | (-26.41, 10.77, -23.47) |
| 1:202121683 | rs62640026 | V>I | A:267 | (-22.45, 12.54, -25.62) |
| 1:202119544 | I>T | A:274 | (-13.17, 14.20, -15.65) | |
| 1:202119538 | COSM4027009 COSM4027008 |
R>Q | A:276 | (-16.79, 20.71, -16.58) |
| 1:202119539 | R>W | A:276 | (-16.79, 20.71, -16.58) | |
| 1:202119530 | C>G | A:279 | (-20.92, 16.83, -12.16) | |
| 1:202119521 | rs373009490 | A>T | A:282 | (-24.40, 12.78, -11.00) |
| 1:202119517 | rs369603289 | T>M | A:283 | (-26.95, 15.68, -11.30) |
| 1:202119514 | rs74819977 | R>Q | A:284 | (-30.02, 12.18, -15.59) |
| 1:202119512 | I>V | A:285 | (-27.91, 9.36, -11.72) | |
| 1:202119499 | rs377181296 | Q>R | A:289 | (-31.45, 7.84, -7.00) |
| 1:202119488 | R>G | A:293 | (-34.77, 5.08, -5.24) | |
| 1:202119484 | rs372813298 | G>E | A:294 | (-36.48, 9.40, -1.93) |
| 1:202119482 | rs200347897 | E>K | A:295 | (-33.45, 7.19, -1.33) |
| 1:202119464 | rs142836510 | I>V | A:301 | (-23.55, 8.09, -8.04) |
| 1:202119461 | V>L | A:302 | (-19.03, 9.24, -7.58) | |
| 1:202119445 | L>P | A:307 | (-15.63, 1.81, -11.76) | |
| 1:202117810 | T>M | A:315 | (-13.49, 19.18, -6.80) | |
| 1:202117805 | E>K | A:317 | (-16.24, 23.44, -4.81) | |
| 1:202117787 | rs371120240 | H>N | A:323 | (-24.53, 16.87, -1.88) |
| 1:202117756 | L>P | A:333 | (-40.00, 17.05, -6.52) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:202127325 | COSM4787284 | R>H | A:55 | (-16.54, -3.01, -7.29) |
| 1:202122908 | COSM2212876 | R>H | A:200 | (-26.70, 20.76, -41.60) |
| 1:202121739 | COSM4229154 | R>H | A:248 | (-33.41, 25.65, -15.67) |