General Structure Information
| PDB ID | 2qk4 |
| HGNC Gene Label(s) | GART |
| Structure Name | human glycinamide ribonucleotide synthetase |
| Resolution | 2.45Å |
| Reference | AUTH M.WELIN,J.G.GROSSMANN,S.FLODIN,T.NYMAN,P.STENMARK,AUTH 2 L.TRESAUGUES,T.KOTENYOVA,I.JOHANSSON,P.NORDLUND,L.LEHTIOTITL STRUCTURAL STUDIES OF TRI-FUNCTIONAL HUMAN GART.REF NUCLEIC ACIDS RES. V. 38 7308 2010REFN ISSN 0305-1048PMID 20631005DOI 10.1093/NAR/GKQ595 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 419 |
| Number Of SNVs | 117 |
| Number Of Permutations | 17486 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.246 |
| p-value | 1.0 |
COSMIC
| Number Of Residues | 419 |
| Number Of SNVs | 3 |
| Number Of Permutations | 107 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.225 |
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 |
|---|---|---|---|---|
| 21:34911618 | A>S | A:2 | (3.79, 16.34, 72.08) | |
| 21:34911611 | rs201258059 | R>Q | A:4 | (-0.82, 12.30, 71.01) |
| 21:34911602 | I>T | A:7 | (-9.05, 9.94, 79.68) | |
| 21:34911584 | rs377404137 | R>T | A:13 | (-14.23, 10.92, 87.45) |
| 21:34911575 | rs147044011 | T>M | A:16 | (-11.46, 17.32, 85.76) |
| 21:34911545 | H>R | A:26 | (4.99, 18.38, 78.95) | |
| 21:34911543 | rs544849476 | V>I | A:27 | (-0.03, 17.82, 76.45) |
| 21:34911513 | A>T | A:37 | (-19.86, 17.66, 75.59) | |
| 21:34911509 | G>D | A:38 | (-17.03, 18.89, 77.28) | |
| 21:34911506 | rs142864430 | T>S | A:39 | (-14.70, 16.38, 76.18) |
| 21:34911503 | A>V | A:40 | (-15.71, 17.24, 72.15) | |
| 21:34907605 | T>I | A:56 | (-6.78, -6.18, 72.14) | |
| 21:34907603 | A>T | A:57 | (-8.33, -2.73, 70.64) | |
| 21:34907591 | COSM1636919 | F>L | A:61 | (-6.46, 3.77, 69.75) |
| 21:34907584 | K>R | A:63 | (0.59, 0.35, 70.06) | |
| 21:34907580 | E>D | A:64 | (-1.77, 3.98, 65.17) | |
| 21:34907564 | V>I | A:70 | (-4.06, 5.14, 79.87) | |
| 21:34907555 | G>R | A:73 | (-11.61, 6.75, 85.98) | |
| 21:34907023 | rs145820555 | C>F | A:93 | (-1.97, 2.29, 82.60) |
| 21:34907024 | rs138272749 | C>S | A:93 | (-1.97, 2.29, 82.60) |
| 21:34907002 | A>V | A:100 | (-4.88, -4.34, 93.77) | |
| 21:34906999 | A>V | A:101 | (-8.52, -3.68, 93.12) | |
| 21:34906985 | S>G | A:106 | (-13.43, -7.65, 97.98) | |
| 21:34906951 | rs368971215 COSM376784 |
H>R | A:117 | (-0.80, -5.59, 107.23) |
| 21:34906948 | G>V | A:118 | (-2.98, -2.97, 111.47) | |
| 21:34906940 | rs138885758 | T>A | A:121 | (-11.15, -1.17, 110.71) |
| 21:34906937 | rs369643556 | A>T | A:122 | (-14.33, -1.98, 111.80) |
| 21:34906928 | K>Q | A:125 | (-17.52, -12.33, 111.11) | |
| 21:34906925 | rs543861162 | A>S | A:126 | (-18.17, -12.88, 107.18) |
| 21:34906920 | F>L | A:127 | (-21.38, -14.04, 107.86) | |
| 21:34906918 | T>S | A:128 | (-22.24, -17.33, 103.13) | |
| 21:34906916 | K>E | A:129 | (-25.12, -19.88, 105.64) | |
| 21:34906913 | P>S | A:130 | (-28.36, -15.95, 106.02) | |
| 21:34906903 | A>G | A:133 | (-25.84, -13.29, 110.22) | |
| 21:34906899 | C>W | A:134 | (-28.77, -13.00, 112.14) | |
| 21:34906898 | S>G | A:135 | (-26.55, -14.93, 115.26) | |
| 21:34904751 | rs201849671 | P>L | A:143 | (-22.93, -1.65, 117.35) |
| 21:34904727 | G>D | A:151 | (-19.82, -6.93, 95.64) | |
| 21:34904709 | G>V | A:157 | (-24.30, -2.67, 99.18) | |
| 21:34904697 | rs35035222 | A>G | A:161 | (-28.81, 0.04, 110.46) |
| 21:34904698 | A>T | A:161 | (-28.81, 0.04, 110.46) | |
| 21:34904695 | K>E | A:162 | (-31.15, 3.08, 112.65) | |
| 21:34904685 | rs151154331 | E>G | A:165 | (-35.96, -5.37, 113.20) |
| 21:34904676 | C>Y | A:168 | (-31.91, -8.84, 110.07) | |
| 21:34904665 | Q>K | A:172 | (-33.08, -11.50, 104.22) | |
| 21:34904661 | rs558129493 | E>G | A:173 | (-33.53, -7.36, 100.76) |
| 21:34904655 | M>T | A:175 | (-28.63, -12.68, 100.99) | |
| 21:34903863 | rs2409496 | E>Q | A:177 | (-30.73, -9.15, 94.42) |
| 21:34903827 | COSM1727424 | I>V | A:189 | (-21.77, -7.89, 109.38) |
| 21:34903189 | rs375476509 | C>Y | A:200 | (-8.10, 10.21, 102.27) |
| 21:34903169 | K>Q | A:207 | (6.95, 2.89, 97.31) | |
| 21:34903157 | P>S | A:211 | (-0.68, 12.87, 100.36) | |
| 21:34903148 | P>A | A:214 | (-8.62, 16.39, 102.97) | |
| 21:34903129 | R>Q | A:220 | (-28.78, 12.00, 101.56) | |
| 21:34903126 | L>S | A:221 | (-31.35, 14.97, 96.55) | |
| 21:34903123 | L>Q | A:222 | (-32.98, 17.18, 99.62) | |
| 21:34903121 | COSM1483916 | E>K | A:223 | (-31.54, 21.89, 100.64) |
| 21:34903111 | G>D | A:226 | (-32.23, 14.82, 102.49) | |
| 21:34903105 | P>L | A:228 | (-32.73, 10.33, 98.32) | |
| 21:34903101 | N>K | A:229 | (-28.44, 8.58, 99.10) | |
| 21:34903096 | rs374582609 COSM1030314 |
G>E | A:231 | (-23.49, 10.16, 93.94) |
| 21:34903085 | rs554191541 | A>S | A:235 | (-17.83, 18.95, 97.18) |
| 21:34903081 | rs370507844 | Y>C | A:236 | (-16.27, 20.19, 101.20) |
| 21:34903070 | rs200011544 | P>S | A:240 | (-11.97, 21.76, 107.89) |
| 21:34901236 | N>S | A:244 | (-1.72, 18.95, 110.09) | |
| 21:34901233 | rs376223183 | D>A | A:245 | (-1.17, 15.96, 113.80) |
| 21:34901211 | D>E | A:252 | (2.04, 6.39, 108.90) | |
| 21:34901207 | V>I | A:254 | (-3.99, 4.09, 106.20) | |
| 21:34901186 | G>R | A:261 | (1.45, -4.53, 102.32) | |
| 21:34901181 | M>I | A:262 | (-0.48, -4.75, 98.79) | |
| 21:34901178 | Q>H | A:263 | (5.46, -4.59, 97.98) | |
| 21:34901179 | Q>R | A:263 | (5.46, -4.59, 97.98) | |
| 21:34901177 | Q>E | A:264 | (4.60, -7.76, 102.60) | |
| 21:34900905 | L>F | A:273 | (-5.30, 4.58, 97.62) | |
| 21:34900889 | rs145553577 | M>T | A:278 | (-15.23, 7.54, 110.52) |
| 21:34900877 | N>S | A:282 | (-11.04, 5.36, 119.38) | |
| 21:34900847 | R>H | A:292 | (-12.06, 5.86, 92.16) | |
| 21:34900841 | G>D | A:294 | (-14.24, 10.78, 92.86) | |
| 21:34900825 | Q>H | A:299 | (-14.98, 17.70, 90.27) | |
| 21:34900598 | Q>R | A:314 | (5.31, 9.60, 83.13) | |
| 21:34900599 | Q>E | A:314 | (5.31, 9.60, 83.13) | |
| 21:34900566 | L>V | A:325 | (6.47, 15.25, 95.45) | |
| 21:34900555 | W>C | A:328 | (-1.70, 19.70, 96.53) | |
| 21:34900553 | L>P | A:329 | (-3.55, 25.91, 96.16) | |
| 21:34900541 | T>N | A:333 | (-11.50, 26.32, 99.47) | |
| 21:34900539 | COSM311388 | A>T | A:334 | (-12.68, 23.90, 96.65) |
| 21:34900529 | V>A | A:337 | (-22.52, 22.46, 93.01) | |
| 21:34900524 | M>V | A:339 | (-26.68, 21.18, 87.96) | |
| 21:34900518 | S>C | A:341 | (-31.99, 15.69, 86.21) | |
| 21:34900512 | rs183180859 | G>C | A:343 | (-35.73, 12.59, 89.42) |
| 21:34900487 | G>A | A:351 | (-32.76, 16.24, 76.01) | |
| 21:34900485 | V>I | A:352 | (-33.07, 19.05, 78.23) | |
| 21:34900479 | I>V | A:354 | (-27.99, 23.08, 78.66) | |
| 21:34900476 | T>A | A:355 | (-28.48, 27.61, 78.79) | |
| 21:34897298 | E>A | A:359 | (-22.54, 32.94, 80.58) | |
| 21:34897292 | rs376079125 | Q>R | A:361 | (-16.14, 30.34, 82.04) |
| 21:34897287 | L>I | A:363 | (-18.42, 34.70, 86.21) | |
| 21:34897283 | COSM301261 | G>E | A:364 | (-14.54, 32.06, 87.16) |
| 21:34897281 | rs139633075 | L>V | A:365 | (-16.67, 29.57, 87.83) |
| 21:34897276 | E>D | A:366 | (-13.95, 25.86, 86.39) | |
| 21:34897275 | V>M | A:367 | (-18.15, 24.05, 83.99) | |
| 21:34897265 | A>G | A:370 | (-21.49, 14.91, 83.09) | |
| 21:34897259 | T>S | A:372 | (-23.47, 16.41, 78.62) | |
| 21:34897257 | A>T | A:373 | (-24.81, 15.94, 74.72) | |
| 21:34897232 | T>I | A:381 | (-29.62, 16.63, 79.27) | |
| 21:34897226 | rs146343965 | G>E | A:383 | (-28.26, 12.46, 82.77) |
| 21:34897227 | G>R | A:383 | (-28.26, 12.46, 82.77) | |
| 21:34897220 | R>K | A:385 | (-24.29, 13.02, 88.58) | |
| 21:34897221 | R>G | A:385 | (-24.29, 13.02, 88.58) | |
| 21:34897205 | T>I | A:390 | (-15.85, 24.54, 90.70) | |
| 21:34897199 | I>T | A:392 | (-11.23, 28.19, 93.40) | |
| 21:34897196 | R>Q | A:393 | (-12.82, 32.23, 95.49) | |
| 21:34897183 | rs372824278 | I>M | A:397 | (-18.81, 31.20, 103.00) |
| 21:34897184 | I>T | A:397 | (-18.81, 31.20, 103.00) | |
| 21:34897179 | A>S | A:399 | (-16.92, 29.37, 97.32) | |
| 21:34897167 | A>T | A:403 | (-20.91, 28.84, 92.77) | |
| 21:34897163 | K>R | A:404 | (-24.80, 29.89, 94.82) | |
| 21:34897137 | E>Q | A:413 | (-37.07, 22.36, 82.07) | |
| 21:34897131 | rs148363571 | A>T | A:415 | (-32.95, 21.80, 87.38) |
| 21:34897128 | I>V | A:416 | (-32.19, 19.57, 90.77) | |
| 21:34897113 | rs8788 | V>I | A:421 | (-22.74, 22.24, 99.33) |
| 21:34897110 | COSM3785454 | G>S | A:422 | (-20.86, 22.84, 103.47) |
| 21:34897103 | rs551383690 COSM1197281 |
R>H | A:424 | (-21.66, 19.08, 108.50) |
| 21:34897098 | I>V | A:426 | (-19.53, 26.57, 107.37) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 21:34903066 | COSM4101310 | Q>R | A:241 | (-13.28, 18.64, 109.66) |
| 21:34900514 | COSM1161404 | K>R | A:342 | (-36.87, 16.88, 87.78) |
| 21:34897104 | COSM2843686 | R>C | A:424 | (-21.66, 19.08, 108.50) |