General Structure Information
| PDB ID | 2vd5 |
| HGNC Gene Label(s) | DMPK |
| Structure Name | structure of human myotonic dystrophy protein kinase in complex with the bisindoylmaleide inhibitor bim viii |
| Resolution | 2.8Å |
| Reference | AUTH J.ELKINS,A.AMOS,F.NIESEN,A.C.W.PIKE,O.FEDOROV,S.KNAPPTITL STRUCTURE OF DYSTROPHIA MYOTONICA PROTEIN KINASE.REF PROTEIN SCI. V. 18 782 2009REFN ISSN 0961-8368PMID 19309729DOI 10.1002/PRO.82 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 390 |
| Number Of SNVs | 111 |
| Number Of Permutations | 62655 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.114 |
| p-value | 0.475 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:46285570 | V>G | A:14 | (89.48, -50.79, -5.66) | |
| 19:46285565 | D>H | A:16 | (85.60, -45.89, -4.14) | |
| 19:46285561 | rs371575564 | P>L | A:17 | (83.72, -46.31, -0.92) |
| 19:46285558 | G>A | A:18 | (81.33, -46.60, -4.29) | |
| 19:46285532 | D>N | A:27 | (83.13, -57.91, 5.91) | |
| 19:46285529 | rs140858879 | L>V | A:28 | (84.27, -61.66, 1.97) |
| 19:46285519 | G>V | A:31 | (83.23, -64.86, 6.43) | |
| 19:46285517 | V>I | A:32 | (84.93, -67.12, 4.03) | |
| 19:46285514 | H>Y | A:33 | (87.79, -67.99, 8.87) | |
| 19:46285508 | E>K | A:35 | (80.37, -69.65, 6.44) | |
| 19:46285498 | rs200832423 | A>V | A:38 | (81.66, -74.08, 10.61) |
| 19:46285490 | rs574515658 | L>V | A:41 | (83.93, -78.13, 3.22) |
| 19:46285486 | A>G | A:42 | (87.14, -78.28, 6.86) | |
| 19:46285487 | A>T | A:42 | (87.14, -78.28, 6.86) | |
| 19:46285477 | rs374319207 | K>R | A:45 | (92.60, -79.85, 1.99) |
| 19:46285466 | D>N | A:49 | (95.07, -74.49, 4.16) | |
| 19:46283107 | L>F | A:61 | (91.62, -58.17, 11.62) | |
| 19:46283098 | rs370436340 | V>I | A:64 | (91.96, -53.88, 15.92) |
| 19:46283091 | L>P | A:66 | (84.67, -52.50, 17.21) | |
| 19:46283088 | Q>R | A:67 | (84.69, -56.92, 19.70) | |
| 19:46283082 | D>V | A:69 | (83.42, -57.49, 24.66) | |
| 19:46283083 | rs140030942 | D>N | A:69 | (83.42, -57.49, 24.66) |
| 19:46283053 | rs377694144 | R>S | A:79 | (63.28, -54.07, 24.96) |
| 19:46282776 | A>G | A:86 | (71.54, -49.44, 24.40) | |
| 19:46282771 | V>L | A:88 | (76.64, -48.09, 25.30) | |
| 19:46282761 | rs531034368 | K>R | A:91 | (85.40, -50.78, 27.78) |
| 19:46282757 | rs201235465 | Q>H | A:92 | (89.99, -47.71, 25.66) |
| 19:46282758 | Q>R | A:92 | (89.99, -47.71, 25.66) | |
| 19:46282747 | V>L | A:96 | (78.11, -42.34, 26.01) | |
| 19:46282744 | rs372505372 | Y>H | A:97 | (78.83, -44.02, 22.11) |
| 19:46282730 | I>M | A:101 | (71.66, -54.90, 18.82) | |
| 19:46282728 | rs562015011 | M>T | A:102 | (70.17, -55.89, 14.53) |
| 19:46282716 | D>G | A:106 | (65.72, -62.27, 12.61) | |
| 19:46282717 | D>N | A:106 | (65.72, -62.27, 12.61) | |
| 19:46282712 | M>I | A:107 | (67.19, -59.54, 9.23) | |
| 19:46282699 | E>K | A:112 | (62.64, -58.44, 1.24) | |
| 19:46282613 | S>W | A:114 | (64.52, -55.99, 5.42) | |
| 19:46282611 | C>R | A:115 | (65.86, -52.17, 5.32) | |
| 19:46282604 | R>H | A:117 | (73.02, -52.38, 3.18) | |
| 19:46282605 | R>C | A:117 | (73.02, -52.38, 3.18) | |
| 19:46282590 | V>L | A:122 | (71.13, -43.36, 5.27) | |
| 19:46282575 | D>N | A:127 | (73.26, -34.31, 6.71) | |
| 19:46282571 | rs144217170 | R>Q | A:128 | (76.89, -35.99, 10.35) |
| 19:46282568 | rs540031135 | R>Q | A:129 | (73.46, -29.50, 10.20) |
| 19:46282545 | COSM1681140 COSM1681139 |
A>T | A:137 | (79.40, -50.14, 12.06) |
| 19:46281892 | V>G | A:147 | (77.36, -47.12, 17.50) | |
| 19:46281883 | rs368423827 | Y>F | A:150 | (72.06, -40.94, 24.62) |
| 19:46281878 | V>M | A:152 | (69.67, -36.48, 26.12) | |
| 19:46281872 | G>R | A:154 | (64.07, -36.79, 23.58) | |
| 19:46281866 | L>M | A:156 | (58.50, -34.56, 19.35) | |
| 19:46281841 | G>E | A:164 | (48.79, -30.15, 28.13) | |
| 19:46281835 | R>Q | A:166 | (48.10, -27.51, 22.14) | |
| 19:46281836 | R>W | A:166 | (48.10, -27.51, 22.14) | |
| 19:46281833 | I>L | A:167 | (52.34, -26.78, 20.84) | |
| 19:46281829 | P>L | A:168 | (53.15, -23.12, 21.13) | |
| 19:46281817 | rs199731275 COSM1394680 COSM1394679 |
A>V | A:172 | (55.16, -25.79, 15.45) |
| 19:46281815 | rs371659096 | R>C | A:173 | (56.61, -21.35, 12.58) |
| 19:46281797 | I>L | A:179 | (60.66, -32.33, 10.36) | |
| 19:46281778 | COSM474933 COSM474932 |
S>L | A:185 | (67.99, -34.86, 3.39) |
| 19:46281761 | Y>H | A:191 | (67.61, -43.45, 0.13) | |
| 19:46281752 | COSM4132145 COSM4132144 |
R>W | A:194 | (59.01, -46.86, 3.90) |
| 19:46281474 | rs371072226 | I>V | A:196 | (57.85, -40.10, 9.30) |
| 19:46281465 | D>N | A:199 | (57.90, -41.97, 17.79) | |
| 19:46281459 | I>F | A:201 | (61.42, -36.82, 15.73) | |
| 19:46281447 | rs376705114 | R>C | A:205 | (72.68, -30.77, 24.49) |
| 19:46281440 | rs369279468 | G>D | A:207 | (66.27, -28.69, 20.77) |
| 19:46281438 | H>Y | A:208 | (68.02, -28.08, 17.55) | |
| 19:46281431 | rs372404776 | R>H | A:210 | (69.07, -34.72, 15.15) |
| 19:46281432 | rs530588467 | R>C | A:210 | (69.07, -34.72, 15.15) |
| 19:46281423 | COSM998299 COSM998298 |
D>N | A:213 | (64.05, -45.37, 12.40) |
| 19:46281417 | G>S | A:215 | (64.56, -49.33, 8.82) | |
| 19:46281414 | S>A | A:216 | (61.99, -48.54, 6.67) | |
| 19:46281398 | rs374752093 | R>Q | A:221 | (62.41, -46.90, -9.22) |
| 19:46281399 | R>W | A:221 | (62.41, -46.90, -9.22) | |
| 19:46281386 | rs61747614 | T>M | A:225 | (59.40, -44.34, -7.72) |
| 19:46281128 | rs149122951 | R>W | A:227 | (57.99, -50.94, -5.76) |
| 19:46281068 | G>C | A:247 | (45.98, -54.35, -3.41) | |
| 19:46281065 | COSM4079455 COSM4079454 |
G>S | A:248 | (46.61, -54.17, -6.76) |
| 19:46281061 | G>E | A:249 | (45.47, -52.13, -8.57) | |
| 19:46281052 | rs368913582 | T>R | A:252 | (48.64, -49.22, -8.22) |
| 19:46281050 | G>S | A:253 | (52.57, -50.04, -6.90) | |
| 19:46281043 | Y>C | A:255 | (55.34, -46.02, -2.71) | |
| 19:46281037 | P>L | A:257 | (58.59, -39.00, -1.90) | |
| 19:46281016 | L>R | A:264 | (54.51, -33.95, 8.03) | |
| 19:46281005 | rs376004763 COSM1394670 COSM1394669 |
A>T | A:268 | (50.38, -31.82, 12.03) |
| 19:46280980 | COSM1203859 COSM1203858 |
T>M | A:276 | (45.09, -39.21, 14.80) |
| 19:46280969 | rs368945420 | A>T | A:280 | (39.79, -46.02, 14.89) |
| 19:46280959 | COSM998296 COSM998295 |
T>M | A:283 | (44.04, -51.00, 12.04) |
| 19:46280957 | A>P | A:284 | (41.08, -51.56, 9.38) | |
| 19:46280947 | Y>C | A:287 | (44.81, -49.38, 7.22) | |
| 19:46280941 | K>T | A:289 | (39.25, -43.67, 7.41) | |
| 19:46280842 | L>F | A:297 | (39.73, -35.18, 6.56) | |
| 19:46280832 | P>L | A:300 | (37.96, -27.76, 13.38) | |
| 19:46280799 | rs201714957 COSM3692883 COSM3692882 |
R>Q | A:311 | (41.89, -25.63, 8.38) |
| 19:46280787 | Q>R | A:315 | (44.95, -29.21, 3.38) | |
| 19:46280784 | R>Q | A:316 | (48.70, -27.70, 0.13) | |
| 19:46280785 | R>W | A:316 | (48.70, -27.70, 0.13) | |
| 19:46280772 | rs139724884 | P>H | A:320 | (45.60, -34.98, -3.64) |
| 19:46280769 | COSM1195965 COSM1195964 |
P>L | A:321 | (49.42, -36.32, -4.88) |
| 19:46280751 | rs555191515 | R>Q | A:327 | (56.24, -32.13, -5.57) |
| 19:46280748 | G>D | A:328 | (59.50, -29.89, -4.74) | |
| 19:46280742 | A>V | A:330 | (61.51, -28.09, 0.72) | |
| 19:46280743 | A>T | A:330 | (61.51, -28.09, 0.72) | |
| 19:46280739 | G>D | A:331 | (60.48, -25.45, -1.23) | |
| 19:46280732 | F>L | A:333 | (57.06, -27.12, 2.69) | |
| 19:46280730 | rs200267773 | R>Q | A:334 | (61.82, -22.02, 1.80) |
| 19:46280731 | rs142784795 | R>W | A:334 | (61.82, -22.02, 1.80) |
| 19:46280721 | rs142936719 | P>R | A:337 | (51.49, -19.27, 4.45) |
| 19:46280718 | F>S | A:338 | (52.68, -22.54, 9.25) | |
| 19:46280702 | D>E | A:343 | (65.79, -17.75, 8.72) | |
| 19:46280688 | R>Q | A:348 | (70.27, -26.12, 12.96) | |
| 19:46280689 | R>W | A:348 | (70.27, -26.12, 12.96) | |
| 19:46280680 | rs372902369 | V>M | A:351 | (67.77, -20.53, 19.99) |
| 19:46280677 | P>A | A:352 | (65.78, -23.61, 20.31) | |
| 19:46280644 | rs556150348 | D>N | A:363 | (72.90, -43.42, 34.75) |
| 19:46280638 | C>R | A:365 | (77.82, -44.28, 34.40) | |
| 19:46280629 | D>N | A:368 | (70.02, -50.85, 35.39) | |
| 19:46280605 | A>P | A:376 | (66.73, -60.56, 22.36) | |
| 19:46280596 | S>C | A:379 | (71.87, -66.65, 24.00) | |
| 19:46280586 | rs149274125 | G>V | A:382 | (67.00, -65.40, 19.58) |
| 19:46278243 | P>L | A:399 | (73.88, -60.63, 3.18) | |
| 19:46278238 | V>M | A:401 | (79.34, -57.79, 2.48) | |
| 19:46278223 | S>P | A:406 | (84.55, -46.69, 11.22) |