General Structure Information
| PDB ID | 1l5s |
| HGNC Gene Label(s) | PYGL |
| Structure Name | human liver glycogen phosphorylase complexed with uric acid, n-acetyl- beta-d-glucopyranosylamine, and cp-403,700 |
| Resolution | 2.1Å |
| Reference | AUTH J.L.EKSTROM,T.A.PAULY,M.D.CARTY,W.C.SOELLER,J.CULP,AUTH 2 D.E.DANLEY,D.J.HOOVER,J.L.TREADWAY,E.M.GIBBS,R.J.FLETTERICK,AUTH 3 Y.S.DAY,D.G.MYSZKA,V.L.RATHTITL STRUCTURE-ACTIVITY ANALYSIS OF THE PURINE BINDING SITE OFTITL 2 HUMAN LIVER GLYCOGEN PHOSPHORYLASE.REF CHEM.BIOL. V. 9 915 2002REFN ISSN 1074-5521PMID 12204691DOI 10.1016/S1074-5521(02)00186-2 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 793 |
| Number Of SNVs | 214 |
| Number Of Permutations | 83656 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.035 |
| p-value | 0.244 |
ClinVar
| Number Of Residues | 793 |
| Number Of SNVs | 11 |
| Number Of Permutations | 8856 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.273 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 793 |
| Number Of SNVs | 12 |
| Number Of Permutations | 3883 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.045 |
| p-value | 0.721 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 214 |
| Number Of ClinVar SNVs | 11 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.221 |
| p-value | 0.001 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 214 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.064 |
| p-value | 0.871 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:51411049 | V>M | A:24 | (83.07, -54.37, 78.97) | |
| 14:51411039 | L>Q | A:27 | (79.53, -58.28, 78.49) | |
| 14:51410946 | rs150483902 | T>M | A:58 | (74.39, -61.90, 78.58) |
| 14:51410934 | H>R | A:62 | (77.50, -64.71, 83.93) | |
| 14:51410926 | G>R | A:65 | (77.72, -72.77, 87.05) | |
| 14:51410898 | Y>C | A:74 | (73.03, -77.85, 98.21) | |
| 14:51410886 | C>Y | A:78 | (73.48, -83.84, 102.36) | |
| 14:51404552 | V>L | A:82 | (64.92, -75.27, 103.77) | |
| 14:51404548 | Y>C | A:83 | (62.30, -78.02, 101.07) | |
| 14:51404546 | Y>N | A:84 | (59.02, -70.60, 102.42) | |
| 14:51404537 | L>M | A:87 | (50.32, -70.47, 97.16) | |
| 14:51404529 | rs187939933 | F>L | A:89 | (57.07, -67.17, 95.73) |
| 14:51404528 | Y>H | A:90 | (54.80, -59.66, 94.92) | |
| 14:51404524 | M>T | A:91 | (60.04, -62.43, 92.86) | |
| 14:51404518 | R>Q | A:93 | (61.34, -55.68, 86.94) | |
| 14:51404494 | N>I | A:101 | (73.35, -60.36, 93.77) | |
| 14:51404470 | D>V | A:109 | (75.59, -50.32, 83.12) | |
| 14:51404461 | I>T | A:112 | (74.40, -51.53, 77.14) | |
| 14:51401903 | L>F | A:115 | (76.22, -51.40, 72.42) | |
| 14:51401895 | rs540020530 | L>F | A:117 | (71.61, -49.14, 74.04) |
| 14:51401890 | rs574414679 | I>R | A:119 | (70.55, -50.68, 81.08) |
| 14:51401891 | I>V | A:119 | (70.55, -50.68, 81.08) | |
| 14:51401886 | E>D | A:120 | (66.77, -47.01, 82.70) | |
| 14:51401885 | rs144099482 | E>K | A:121 | (64.88, -48.23, 77.50) |
| 14:51401876 | COSM4051162 | E>Q | A:124 | (61.14, -50.60, 82.46) |
| 14:51401870 | E>K | A:126 | (61.55, -57.49, 83.24) | |
| 14:51401851 | G>D | A:132 | (51.31, -61.90, 94.35) | |
| 14:51401848 | N>S | A:133 | (48.43, -60.49, 96.60) | |
| 14:51398489 | F>L | A:143 | (62.41, -65.07, 103.76) | |
| 14:51398476 | M>T | A:147 | (67.57, -68.44, 102.17) | |
| 14:51398464 | G>V | A:151 | (74.00, -70.46, 102.22) | |
| 14:51398444 | rs139032686 | G>S | A:158 | (55.12, -73.10, 93.84) |
| 14:51398437 | rs147387589 | R>Q | A:160 | (54.39, -71.29, 85.45) |
| 14:51398438 | R>W | A:160 | (54.39, -71.29, 85.45) | |
| 14:51398419 | F>C | A:166 | (44.93, -57.02, 89.24) | |
| 14:51398416 | rs374559662 | N>S | A:167 | (47.82, -55.23, 85.38) |
| 14:51398401 | D>G | A:172 | (35.68, -42.44, 85.58) | |
| 14:51398394 | W>C | A:174 | (35.15, -46.14, 89.73) | |
| 14:51390817 | V>E | A:176 | (39.98, -51.53, 85.78) | |
| 14:51390808 | A>G | A:179 | (45.37, -59.46, 82.48) | |
| 14:51390809 | A>T | A:179 | (45.37, -59.46, 82.48) | |
| 14:51390806 | D>N | A:180 | (49.62, -60.39, 84.44) | |
| 14:51390797 | L>V | A:183 | (54.58, -65.90, 80.51) | |
| 14:51390790 | Y>C | A:185 | (55.82, -60.86, 74.91) | |
| 14:51390788 | G>R | A:186 | (58.81, -64.75, 77.84) | |
| 14:51390753 | M>I | A:197 | (56.46, -84.20, 84.96) | |
| 14:51390755 | rs372796851 | M>V | A:197 | (56.46, -84.20, 84.96) |
| 14:51390739 | F>C | A:202 | (42.60, -83.75, 92.11) | |
| 14:51390736 | rs34096980 | Y>C | A:203 | (37.58, -84.99, 92.39) |
| 14:51390730 | rs371889140 | K>R | A:205 | (36.41, -93.59, 94.79) |
| 14:51390727 | V>A | A:206 | (38.84, -94.62, 99.53) | |
| 14:51390728 | V>I | A:206 | (38.84, -94.62, 99.53) | |
| 14:51390709 | G>E | A:212 | (45.98, -100.90, 101.98) | |
| 14:51390697 | rs368025070 | I>N | A:216 | (40.57, -95.50, 93.59) |
| 14:51390695 | D>N | A:217 | (38.56, -94.21, 90.55) | |
| 14:51390691 | T>N | A:218 | (41.61, -90.38, 90.53) | |
| 14:51387782 | rs946616 | V>I | A:221 | (46.61, -83.01, 86.99) |
| 14:51387776 | A>S | A:223 | (53.20, -81.35, 87.53) | |
| 14:51387772 | L>P | A:224 | (55.89, -78.99, 84.45) | |
| 14:51387770 | P>T | A:225 | (58.64, -78.60, 87.04) | |
| 14:51387760 | COSM3386574 | T>I | A:228 | (63.96, -69.68, 88.95) |
| 14:51387755 | rs148378112 | V>M | A:230 | (67.93, -67.73, 93.89) |
| 14:51387742 | rs200920293 | M>T | A:234 | (78.70, -60.93, 95.94) |
| 14:51387734 | T>S | A:237 | (75.04, -69.38, 96.20) | |
| 14:51387721 | M>T | A:241 | (61.82, -70.49, 92.36) | |
| 14:51387703 | R>Q | A:247 | (50.86, -78.71, 81.78) | |
| 14:51387694 | N>T | A:250 | (48.61, -87.63, 77.15) | |
| 14:51387692 | D>N | A:251 | (45.58, -92.03, 77.91) | |
| 14:51387327 | Y>H | A:262 | (39.43, -84.90, 68.85) | |
| 14:51387320 | Q>P | A:264 | (34.97, -80.08, 73.67) | |
| 14:51387317 | A>D | A:265 | (38.23, -83.23, 74.47) | |
| 14:51387308 | rs557868018 | D>G | A:268 | (37.69, -80.00, 77.95) |
| 14:51387309 | COSM1197424 | D>H | A:268 | (37.69, -80.00, 77.95) |
| 14:51387305 | COSM303063 | R>Q | A:269 | (44.15, -81.19, 77.53) |
| 14:51387294 | rs146541298 | E>K | A:273 | (45.86, -76.77, 81.68) |
| 14:51387288 | COSM1748876 | I>V | A:275 | (44.71, -75.82, 88.55) |
| 14:51387281 | rs375172368 COSM1222831 |
R>Q | A:277 | (45.22, -70.69, 83.55) |
| 14:51387282 | R>W | A:277 | (45.22, -70.69, 83.55) | |
| 14:51387272 | Y>C | A:280 | (42.24, -67.08, 93.65) | |
| 14:51383823 | F>V | A:285 | (38.77, -62.38, 101.94) | |
| 14:51383819 | F>Y | A:286 | (38.63, -68.04, 102.79) | |
| 14:51383813 | G>E | A:288 | (36.03, -70.79, 99.04) | |
| 14:51383790 | E>K | A:296 | (45.57, -74.94, 98.46) | |
| 14:51383784 | F>L | A:298 | (49.12, -78.59, 91.76) | |
| 14:51383766 | rs539025958 | L>V | A:304 | (55.54, -83.37, 99.73) |
| 14:51383757 | I>V | A:307 | (60.56, -83.25, 99.02) | |
| 14:51383751 | rs35501326 | R>C | A:309 | (61.42, -87.40, 93.34) |
| 14:51383748 | R>C | A:310 | (65.17, -84.05, 96.35) | |
| 14:51383735 | S>F | A:314 | (69.68, -89.27, 99.11) | |
| 14:51383728 | F>L | A:316 | (69.67, -92.04, 102.46) | |
| 14:51383696 | D>V | A:327 | (64.04, -92.69, 110.83) | |
| 14:51383693 | COSM1222830 | A>D | A:328 | (66.37, -88.97, 108.74) |
| 14:51383681 | Q>L | A:332 | (68.21, -84.28, 105.46) | |
| 14:51383422 | COSM4051161 | A>S | A:343 | (47.83, -77.22, 105.16) |
| 14:51383415 | COSM1607723 | A>V | A:345 | (50.98, -80.93, 103.67) |
| 14:51383416 | A>T | A:345 | (50.98, -80.93, 103.67) | |
| 14:51383389 | V>M | A:354 | (50.69, -94.55, 105.68) | |
| 14:51383382 | rs541649127 | I>T | A:356 | (52.85, -94.92, 99.55) |
| 14:51382662 | rs11541446 | A>T | A:373 | (56.63, -75.23, 110.32) |
| 14:51382637 | rs143759519 | P>L | A:381 | (38.22, -62.57, 111.05) |
| 14:51382634 | E>G | A:382 | (37.85, -61.37, 107.13) | |
| 14:51382622 | COSM1222827 | R>H | A:386 | (36.29, -71.22, 108.42) |
| 14:51382613 | V>A | A:389 | (33.76, -81.16, 105.30) | |
| 14:51382614 | rs372627784 | V>M | A:389 | (33.76, -81.16, 105.30) |
| 14:51382607 | L>P | A:391 | (34.65, -79.05, 99.10) | |
| 14:51382586 | rs369207678 | R>Q | A:398 | (43.09, -91.10, 102.94) |
| 14:51382584 | rs566841577 | H>Y | A:399 | (43.93, -85.85, 102.16) |
| 14:51382545 | D>N | A:412 | (41.48, -88.69, 122.57) | |
| 14:51382213 | I>T | A:414 | (42.55, -82.59, 125.28) | |
| 14:51382196 | K>E | A:420 | (35.34, -82.59, 133.82) | |
| 14:51382193 | rs144167972 | D>H | A:421 | (36.97, -78.47, 129.51) |
| 14:51382190 | V>M | A:422 | (33.35, -79.97, 127.28) | |
| 14:51382187 | D>N | A:423 | (34.14, -75.55, 125.47) | |
| 14:51382183 | rs2228499 | R>H | A:424 | (40.42, -76.93, 126.31) |
| 14:51382184 | R>C | A:424 | (40.42, -76.93, 126.31) | |
| 14:51382177 | R>K | A:426 | (33.92, -75.71, 121.11) | |
| 14:51382171 | M>T | A:428 | (41.57, -77.40, 120.89) | |
| 14:51382162 | I>T | A:431 | (36.28, -80.04, 112.93) | |
| 14:51382156 | E>G | A:433 | (31.05, -79.57, 114.31) | |
| 14:51382157 | E>K | A:433 | (31.05, -79.57, 114.31) | |
| 14:51382112 | rs367969807 | G>S | A:448 | (51.67, -80.69, 112.66) |
| 14:51382104 | H>Q | A:450 | (58.46, -78.06, 115.15) | |
| 14:51382093 | G>D | A:454 | (54.95, -64.88, 114.07) | |
| 14:51382091 | rs113993979 | V>M | A:455 | (55.41, -61.85, 111.70) |
| 14:51381527 | rs78433217 | K>N | A:469 | (44.99, -69.68, 125.70) |
| 14:51381502 | K>E | A:478 | (54.57, -75.42, 119.31) | |
| 14:51381493 | rs201687458 | N>D | A:481 | (58.67, -63.99, 117.09) |
| 14:51381483 | rs138888959 | N>S | A:484 | (58.93, -59.87, 109.27) |
| 14:51381465 | rs150701003 | R>H | A:490 | (64.82, -56.09, 94.97) |
| 14:51381466 | rs113993980 | R>C | A:490 | (64.82, -56.09, 94.97) |
| 14:51381454 | rs371462026 | L>F | A:494 | (68.09, -52.41, 93.18) |
| 14:51381423 | rs565556240 | A>V | A:504 | (79.76, -47.17, 101.78) |
| 14:51379841 | G>E | A:508 | (81.26, -49.72, 104.12) | |
| 14:51379833 | rs141992494 | Y>H | A:511 | (75.80, -51.99, 104.16) |
| 14:51379824 | D>H | A:514 | (75.69, -57.15, 109.10) | |
| 14:51379790 | L>P | A:525 | (74.05, -37.69, 114.31) | |
| 14:51379784 | D>G | A:527 | (78.57, -34.81, 109.58) | |
| 14:51379785 | rs138461745 | D>N | A:527 | (78.57, -34.81, 109.58) |
| 14:51379776 | F>V | A:530 | (76.30, -37.77, 106.09) | |
| 14:51379770 | R>W | A:532 | (75.18, -30.39, 103.47) | |
| 14:51379761 | A>T | A:535 | (69.50, -34.70, 101.30) | |
| 14:51378987 | rs183596264 | T>M | A:551 | (55.52, -38.74, 82.30) |
| 14:51378979 | K>Q | A:554 | (48.33, -32.99, 83.94) | |
| 14:51378969 | I>T | A:557 | (55.34, -32.45, 90.84) | |
| 14:51378963 | P>L | A:559 | (60.22, -30.46, 93.45) | |
| 14:51378964 | P>A | A:559 | (60.22, -30.46, 93.45) | |
| 14:51378945 | V>A | A:565 | (53.76, -42.15, 100.61) | |
| 14:51378942 | COSM1370049 | Q>R | A:566 | (49.26, -44.83, 102.03) |
| 14:51378932 | COSM3496278 | R>S | A:569 | (46.48, -54.86, 98.24) |
| 14:51378919 | K>Q | A:574 | (46.04, -51.28, 105.48) | |
| 14:51378915 | rs267604000 | R>Q | A:575 | (43.05, -46.58, 109.12) |
| 14:51378911 | rs368171220 | Q>H | A:576 | (43.92, -46.26, 102.58) |
| 14:51378912 | Q>R | A:576 | (43.92, -46.26, 102.58) | |
| 14:51378909 | L>P | A:577 | (39.39, -43.59, 104.45) | |
| 14:51378905 | L>F | A:578 | (42.52, -41.73, 108.17) | |
| 14:51378902 | N>K | A:579 | (45.35, -40.38, 104.17) | |
| 14:51378893 | rs191318538 | H>Q | A:582 | (45.29, -35.11, 106.40) |
| 14:51378885 | rs144989341 | T>M | A:585 | (41.61, -31.47, 106.27) |
| 14:51378882 | rs149923860 | M>T | A:586 | (45.53, -30.59, 103.93) |
| 14:51378874 | rs562250944 | R>C | A:589 | (43.89, -26.74, 107.32) |
| 14:51378750 | I>M | A:590 | (44.52, -24.29, 101.44) | |
| 14:51378725 | V>M | A:599 | (54.69, -27.46, 104.17) | |
| 14:51378709 | I>S | A:604 | (51.65, -40.49, 96.80) | |
| 14:51378707 | I>F | A:605 | (47.46, -42.81, 97.95) | |
| 14:51378701 | G>S | A:607 | (46.82, -49.77, 95.26) | |
| 14:51378585 | rs572034540 | A>V | A:610 | (40.10, -56.79, 95.54) |
| 14:51378586 | A>S | A:610 | (40.10, -56.79, 95.54) | |
| 14:51378576 | Y>C | A:613 | (37.20, -54.92, 99.62) | |
| 14:51378570 | M>K | A:615 | (34.61, -50.05, 100.84) | |
| 14:51378571 | M>V | A:615 | (34.61, -50.05, 100.84) | |
| 14:51378557 | I>M | A:619 | (38.29, -46.09, 99.38) | |
| 14:51378558 | I>N | A:619 | (38.29, -46.09, 99.38) | |
| 14:51378555 | I>T | A:620 | (40.20, -46.26, 94.81) | |
| 14:51378550 | rs147839939 | L>V | A:622 | (37.09, -40.91, 97.71) |
| 14:51378537 | V>A | A:626 | (39.91, -35.85, 96.37) | |
| 14:51378518 | rs555470884 | N>K | A:632 | (42.24, -29.05, 89.07) |
| 14:51378515 | COSM284406 | D>E | A:633 | (41.64, -25.32, 93.32) |
| 14:51378505 | G>R | A:637 | (48.27, -25.48, 93.64) | |
| 14:51378492 | rs556404496 | K>T | A:641 | (49.41, -31.49, 93.70) |
| 14:51378467 | R>S | A:649 | (54.24, -52.64, 89.85) | |
| 14:51376809 | rs142483613 | T>A | A:660 | (59.49, -41.23, 100.46) |
| 14:51376797 | E>Q | A:664 | (51.30, -42.83, 105.66) | |
| 14:51376793 | Q>R | A:665 | (52.78, -47.28, 107.90) | |
| 14:51376787 | S>F | A:667 | (47.08, -49.59, 111.04) | |
| 14:51376784 | rs531430985 | T>I | A:668 | (43.77, -50.15, 113.44) |
| 14:51376782 | A>T | A:669 | (45.63, -51.32, 116.53) | |
| 14:51376773 | rs113993984 | E>K | A:672 | (49.36, -54.82, 109.78) |
| 14:51376766 | rs113993986 | S>W | A:674 | (54.23, -56.67, 110.55) |
| 14:51376757 | G>D | A:677 | (57.04, -51.33, 104.09) | |
| 14:51376748 | rs113993987 | K>T | A:680 | (60.45, -51.43, 102.22) |
| 14:51376743 | M>L | A:682 | (63.33, -47.19, 108.37) | |
| 14:51376739 | L>P | A:683 | (66.46, -48.84, 104.61) | |
| 14:51376737 | rs149605106 | N>H | A:684 | (65.14, -45.98, 101.59) |
| 14:51376730 | rs370959744 | A>D | A:686 | (61.68, -42.08, 105.49) |
| 14:51376728 | rs138483823 | L>V | A:687 | (60.38, -39.94, 108.67) |
| 14:51376722 | I>V | A:689 | (52.83, -41.26, 110.27) | |
| 14:51376710 | D>N | A:693 | (50.38, -52.15, 114.60) | |
| 14:51376707 | rs368758632 | G>R | A:694 | (53.38, -54.29, 114.56) |
| 14:51376690 | M>I | A:699 | (60.31, -49.37, 113.53) | |
| 14:51376689 | A>T | A:700 | (60.36, -47.57, 117.89) | |
| 14:51376670 | rs368302349 | E>G | A:706 | (62.15, -39.99, 120.04) |
| 14:51376648 | M>I | A:713 | (43.82, -46.00, 119.26) | |
| 14:51376640 | D>G | A:716 | (45.03, -51.63, 125.56) | |
| 14:51376634 | rs370338890 | V>A | A:718 | (40.96, -50.78, 120.58) |
| 14:51376635 | V>M | A:718 | (40.96, -50.78, 120.58) | |
| 14:51376631 | A>D | A:719 | (39.57, -52.68, 123.77) | |
| 14:51376613 | G>V | A:725 | (31.29, -48.57, 122.44) | |
| 14:51376614 | G>R | A:725 | (31.29, -48.57, 122.44) | |
| 14:51375659 | E>A | A:730 | (30.60, -39.38, 120.00) | |
| 14:51375660 | E>K | A:730 | (30.60, -39.38, 120.00) | |
| 14:51375653 | Y>C | A:732 | (29.98, -35.40, 112.41) | |
| 14:51375654 | rs141992300 | Y>H | A:732 | (29.98, -35.40, 112.41) |
| 14:51375642 | COSM3886092 | P>S | A:736 | (34.95, -29.24, 113.60) |
| 14:51375632 | K>R | A:739 | (30.74, -31.68, 110.22) | |
| 14:51375613 | I>M | A:745 | (32.35, -37.03, 101.29) | |
| 14:51375614 | I>T | A:745 | (32.35, -37.03, 101.29) | |
| 14:51375602 | F>S | A:749 | (32.92, -30.56, 97.24) | |
| 14:51375570 | D>H | A:760 | (28.07, -47.21, 100.74) | |
| 14:51375566 | I>T | A:761 | (32.13, -44.53, 102.30) | |
| 14:51375563 | I>T | A:762 | (29.08, -41.99, 104.88) | |
| 14:51375560 | N>S | A:763 | (26.68, -46.51, 106.26) | |
| 14:51375552 | F>L | A:766 | (28.56, -42.15, 110.78) | |
| 14:51375050 | K>R | A:772 | (37.75, -47.85, 115.39) | |
| 14:51375051 | K>E | A:772 | (37.75, -47.85, 115.39) | |
| 14:51375045 | F>L | A:774 | (35.42, -40.90, 112.38) | |
| 14:51375033 | E>K | A:778 | (41.94, -35.38, 117.32) | |
| 14:51375029 | A>G | A:779 | (45.66, -37.79, 116.53) | |
| 14:51375017 | C>F | A:783 | (50.83, -36.00, 113.89) | |
| 14:51375011 | D>G | A:785 | (50.18, -30.57, 111.96) | |
| 14:51375002 | rs536358101 | S>I | A:788 | (54.88, -30.10, 108.72) |
| 14:51375003 | S>C | A:788 | (54.88, -30.10, 108.72) | |
| 14:51374999 | Q>R | A:789 | (55.98, -27.84, 112.37) | |
| 14:51375000 | Q>E | A:789 | (55.98, -27.84, 112.37) | |
| 14:51374997 | L>M | A:790 | (60.46, -31.58, 111.63) | |
| 14:51372251 | rs141002397 | M>I | A:800 | (64.59, -37.97, 112.94) |
| 14:51372253 | rs150228198 | M>V | A:800 | (64.59, -37.97, 112.94) |
| 14:51372238 | rs34313873 | I>L | A:805 | (68.92, -44.99, 108.11) |
| 14:51372228 | S>L | A:808 | (67.35, -50.30, 109.95) | |
| 14:51372207 | rs547527610 | R>Q | A:815 | (66.61, -60.82, 111.79) |
| 14:51372193 | rs113993988 | Y>H | A:820 | (62.45, -68.43, 110.52) |
| 14:51372166 | rs143556430 | P>T | A:829 | (75.27, -71.46, 107.07) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:51387748 | rs113993975 | G>D | A:232 | (73.40, -64.57, 95.96) |
| 14:51383436 | rs113993976 | N>S | A:338 | (53.62, -69.00, 103.85) |
| 14:51382651 | rs113993977 | N>K | A:376 | (50.02, -66.79, 111.78) |
| 14:51382091 | rs113993979 | V>M | A:455 | (55.41, -61.85, 111.70) |
| 14:51381466 | rs113993980 | R>C | A:490 | (64.82, -56.09, 94.97) |
| 14:51378522 | rs113993983 | N>I | A:631 | (45.24, -31.65, 91.53) |
| 14:51378517 | rs35026927 | D>Y | A:633 | (41.64, -25.32, 93.32) |
| 14:51376773 | rs113993984 | E>K | A:672 | (49.36, -54.82, 109.78) |
| 14:51376766 | rs113993986 | S>L | A:674 | (54.23, -56.67, 110.55) |
| 14:51376767 | rs113993985 | S>T | A:674 | (54.23, -56.67, 110.55) |
| 14:51376748 | rs113993987 | K>T | A:680 | (60.45, -51.43, 102.22) |
| 14:51372193 | rs113993988 | Y>H | A:820 | (62.45, -68.43, 110.52) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:51410923 | COSM4411465 | R>C | A:66 | (77.90, -69.31, 90.20) |
| 14:51401885 | COSM3671929 | E>K | A:121 | (64.88, -48.23, 77.50) |
| 14:51398391 | COSM3706308 | Q>H | A:175 | (40.20, -50.98, 90.25) |
| 14:51390766 | COSM314623 | R>L | A:193 | (63.88, -79.41, 85.40) |
| 14:51387719 | COSM1222829 | R>C | A:242 | (61.16, -76.78, 91.56) |
| 14:51387288 | COSM1748876 | I>V | A:275 | (44.71, -75.82, 88.55) |
| 14:51383415 | COSM1607723 | A>E | A:345 | (50.98, -80.93, 103.67) |
| 14:51383397 | COSM3771806 | R>M | A:351 | (48.87, -89.91, 100.77) |
| 14:51382184 | COSM2199029 | R>C | A:424 | (40.42, -76.93, 126.31) |
| 14:51378988 | COSM1194956 | T>S | A:551 | (55.52, -38.74, 82.30) |
| 14:51378517 | COSM3690101 | D>H | A:633 | (41.64, -25.32, 93.32) |
| 14:51378457 | COSM3711569 | A>T | A:653 | (58.26, -49.77, 94.98) |
| 14:51375596 | COSM106760 | S>F | A:751 | (30.46, -36.13, 93.52) |