General Structure Information
| PDB ID | 3dlj |
| HGNC Gene Label(s) | CNDP1 |
| Structure Name | crystal structure of human carnosine dipeptidase 1 |
| Resolution | 2.26Å |
| Reference | AUTH E.DOBROVETSKY,A.DONG,A.SEITOVA,H.HE,W.TEMPEL,I.KOZIERADZKI,AUTH 2 C.H.ARROWSMITH,J.WEIGELT,C.BOUNTRA,A.M.EDWARDS,A.BOCHKAREV,AUTH 3 D.COSSARTITL CRYSTAL STRUCTURE OF HUMAN CARNOSINE DIPEPTIDASE 1.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 467 |
| Number Of SNVs | 127 |
| Number Of Permutations | 65445 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.125 |
| p-value | 0.208 |
COSMIC
| Number Of Residues | 467 |
| Number Of SNVs | 11 |
| Number Of Permutations | 5059 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.164 |
| p-value | 0.21 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 127 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | -0.167 |
| p-value | 0.145 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:72223649 | L>P | B:8 | (81.60, 49.89, 39.08) | |
| 18:72223672 | I>F | B:16 | (75.27, 38.21, 40.78) | |
| 18:72223697 | V>A | B:24 | (67.13, 30.24, 42.50) | |
| 18:72223699 | rs144205585 | Q>K | B:25 | (64.31, 30.33, 46.90) |
| 18:72226559 | rs375375897 COSM3146322 |
T>M | B:26 | (63.05, 34.38, 44.64) |
| 18:72226582 | E>K | B:34 | (49.30, 28.31, 40.62) | |
| 18:72226583 | rs201810396 COSM438378 |
E>G | B:34 | (49.30, 28.31, 40.62) |
| 18:72226588 | rs142534952 | D>N | B:36 | (46.66, 30.72, 34.67) |
| 18:72226592 | rs146856300 | S>F | B:37 | (45.89, 34.34, 32.46) |
| 18:72226609 | COSM1711520 | R>C | B:43 | (41.85, 27.56, 40.79) |
| 18:72226610 | R>H | B:43 | (41.85, 27.56, 40.79) | |
| 18:72226635 | M>I | B:51 | (52.52, 37.39, 41.63) | |
| 18:72226642 | rs138430555 | V>M | B:54 | (54.66, 39.55, 45.69) |
| 18:72226648 | rs370042652 COSM3796511 |
A>T | B:56 | (54.89, 45.39, 44.61) |
| 18:72226653 | D>E | B:57 | (56.61, 44.15, 48.57) | |
| 18:72226655 | rs200926840 | T>M | B:58 | (59.86, 43.25, 45.70) |
| 18:72226663 | COSM3146327 | R>C | B:61 | (60.63, 45.27, 50.95) |
| 18:72226664 | rs149276831 | R>H | B:61 | (60.63, 45.27, 50.95) |
| 18:72226672 | rs147983814 | A>T | B:64 | (60.46, 51.95, 44.56) |
| 18:72226685 | S>L | B:68 | (48.79, 49.27, 41.84) | |
| 18:72226693 | rs369796516 | M>V | B:71 | (43.20, 47.28, 34.78) |
| 18:72226697 | rs373598047 COSM403725 |
G>V | B:72 | (39.10, 45.87, 35.69) |
| 18:72228113 | P>L | B:83 | (38.73, 40.31, 37.84) | |
| 18:72228122 | rs75457026 | P>H | B:86 | (47.08, 44.61, 39.02) |
| 18:72228124 | rs4263028 | I>V | B:87 | (49.52, 47.11, 36.00) |
| 18:72228136 | rs150779486 | E>K | B:91 | (59.77, 55.73, 39.67) |
| 18:72228148 | COSM3527534 | D>N | B:95 | (68.37, 62.59, 38.11) |
| 18:72228155 | rs139749526 | T>M | B:97 | (70.83, 64.35, 34.94) |
| 18:72228164 | T>I | B:100 | (64.73, 57.11, 31.88) | |
| 18:72228166 | V>M | B:101 | (64.76, 52.61, 31.43) | |
| 18:72228175 | Y>H | B:104 | (56.63, 44.21, 29.55) | |
| 18:72228190 | V>L | B:109 | (51.51, 31.78, 33.46) | |
| 18:72228200 | A>V | B:112 | (50.11, 23.79, 33.85) | |
| 18:72228205 | rs371268412 COSM2155308 |
R>W | B:114 | (52.49, 16.34, 37.50) |
| 18:72228206 | rs373918795 | R>Q | B:114 | (52.49, 16.34, 37.50) |
| 18:72228218 | W>L | B:118 | (55.17, 19.51, 33.60) | |
| 18:72228228 | D>E | B:121 | (54.70, 20.24, 40.49) | |
| 18:72228233 | Y>C | B:123 | (52.79, 25.67, 39.06) | |
| 18:72228238 | L>M | B:125 | (61.70, 25.58, 40.64) | |
| 18:72228239 | L>Q | B:125 | (61.70, 25.58, 40.64) | |
| 18:72228242 | rs533342778 COSM564457 |
T>M | B:126 | (62.87, 21.17, 39.98) |
| 18:72228245 | E>G | B:127 | (68.28, 22.55, 39.90) | |
| 18:72228253 | G>R | B:130 | (71.12, 23.34, 35.55) | |
| 18:72229303 | A>V | B:137 | (60.97, 30.00, 34.37) | |
| 18:72229308 | rs146707393 | D>N | B:139 | (57.20, 32.72, 29.85) |
| 18:72229309 | D>G | B:139 | (57.20, 32.72, 29.85) | |
| 18:72229312 | N>S | B:140 | (58.79, 36.43, 31.92) | |
| 18:72229332 | COSM4073229 | W>R | B:147 | (65.80, 44.87, 34.81) |
| 18:72229350 | A>T | B:153 | (73.05, 44.30, 43.68) | |
| 18:72229359 | A>P | B:156 | (73.30, 45.86, 48.44) | |
| 18:72234470 | D>E | B:160 | (74.19, 55.29, 42.20) | |
| 18:72234471 | L>F | B:161 | (71.18, 53.00, 39.67) | |
| 18:72234481 | N>T | B:164 | (66.35, 57.00, 36.04) | |
| 18:72234491 | F>L | B:167 | (60.16, 48.99, 37.10) | |
| 18:72234492 | I>V | B:168 | (55.35, 48.11, 32.66) | |
| 18:72234496 | I>T | B:169 | (55.13, 44.55, 35.73) | |
| 18:72234525 | COSM1303847 | A>S | B:179 | (43.65, 46.79, 29.37) |
| 18:72234559 | rs200332997 COSM1735241 |
R>Q | B:190 | (52.50, 60.72, 32.39) |
| 18:72234582 | I>V | B:198 | (60.63, 49.76, 26.41) | |
| 18:72234583 | I>T | B:198 | (60.63, 49.76, 26.41) | |
| 18:72234585 | V>I | B:199 | (63.65, 46.80, 27.89) | |
| 18:72234596 | D>E | B:202 | (59.33, 37.36, 26.62) | |
| 18:72234609 | S>G | B:207 | (71.55, 29.38, 19.19) | |
| 18:72234619 | K>R | B:210 | (73.97, 32.84, 20.06) | |
| 18:72234630 | T>P | B:214 | (64.51, 40.88, 18.89) | |
| 18:72234637 | rs144874700 | G>A | B:216 | (60.64, 41.08, 15.49) |
| 18:72234642 | rs144622039 | R>W | B:218 | (54.82, 35.77, 14.08) |
| 18:72234643 | COSM989876 COSM4073230 |
R>Q | B:218 | (54.82, 35.77, 14.08) |
| 18:72234645 | rs202228025 | G>R | B:219 | (51.11, 38.20, 15.43) |
| 18:72234646 | G>E | B:219 | (51.11, 38.20, 15.43) | |
| 18:72234652 | rs369159038 | S>T | B:221 | (44.61, 35.64, 15.24) |
| 18:72234660 | M>L | B:224 | (37.04, 30.46, 20.15) | |
| 18:72234662 | rs373344061 | M>I | B:224 | (37.04, 30.46, 20.15) |
| 18:72238433 | D>N | B:231 | (24.29, 21.98, 26.46) | |
| 18:72238439 | D>N | B:233 | (26.73, 15.04, 26.18) | |
| 18:72238472 | rs73973908 | H>N | B:244 | (23.58, 16.64, 11.69) |
| 18:72238473 | H>L | B:244 | (23.58, 16.64, 11.69) | |
| 18:72244119 | S>L | B:260 | (50.27, 18.86, 4.13) | |
| 18:72244147 | I>M | B:269 | (45.63, 34.74, 4.67) | |
| 18:72244178 | E>K | B:280 | (64.14, 40.15, 3.53) | |
| 18:72244187 | T>A | B:283 | (69.22, 39.40, 6.43) | |
| 18:72244217 | COSM3821723 | E>K | B:293 | (73.43, 22.70, 16.26) |
| 18:72244223 | rs150850459 | R>W | B:295 | (67.19, 18.97, 12.74) |
| 18:72244224 | rs140024831 | R>Q | B:295 | (67.19, 18.97, 12.74) |
| 18:72244233 | S>I | B:298 | (64.02, 20.44, 18.78) | |
| 18:72244235 | R>W | B:299 | (63.70, 16.90, 21.25) | |
| 18:72244236 | COSM4131082 | R>Q | B:299 | (63.70, 16.90, 21.25) |
| 18:72244256 | rs148917348 | D>N | B:306 | (65.80, 21.62, 3.70) |
| 18:72244260 | T>S | B:307 | (66.94, 25.76, 4.59) | |
| 18:72245399 | E>G | B:309 | (67.75, 30.50, 4.76) | |
| 18:72245410 | rs147253335 | M>V | B:313 | (61.78, 33.02, 5.99) |
| 18:72245414 | H>P | B:314 | (58.24, 29.82, 6.69) | |
| 18:72245423 | R>T | B:317 | (58.40, 37.04, 5.77) | |
| 18:72245452 | COSM708947 | E>K | B:327 | (36.26, 23.39, 25.19) |
| 18:72245456 | G>V | B:328 | (33.84, 19.27, 25.28) | |
| 18:72245458 | rs142187241 | A>T | B:329 | (35.20, 16.59, 24.44) |
| 18:72245459 | rs181236817 | A>V | B:329 | (35.20, 16.59, 24.44) |
| 18:72245477 | T>S | B:335 | (37.42, 4.35, 26.52) | |
| 18:72245489 | I>T | B:339 | (27.73, 12.19, 20.83) | |
| 18:72245498 | rs539490484 | R>Q | B:342 | (29.16, 23.63, 23.90) |
| 18:72245503 | I>V | B:344 | (34.86, 25.12, 21.68) | |
| 18:72245505 | COSM3527542 | I>M | B:344 | (34.86, 25.12, 21.68) |
| 18:72245512 | rs546892324 | F>L | B:347 | (42.06, 28.50, 14.93) |
| 18:72245513 | F>C | B:347 | (42.06, 28.50, 14.93) | |
| 18:72245521 | rs200450632 | R>C | B:350 | (51.14, 33.51, 15.40) |
| 18:72245522 | rs367622707 COSM1480462 |
R>H | B:350 | (51.14, 33.51, 15.40) |
| 18:72245535 | rs148980253 | H>Q | B:354 | (52.32, 45.22, 5.70) |
| 18:72245536 | rs142944222 | M>V | B:355 | (48.66, 40.46, 7.84) |
| 18:72245549 | rs536184259 COSM4000470 |
A>V | B:359 | (40.82, 41.11, 7.53) |
| 18:72245551 | V>L | B:360 | (42.18, 37.95, 9.42) | |
| 18:72247394 | S>F | B:373 | (26.86, 25.86, 4.56) | |
| 18:72247396 | K>Q | B:374 | (28.58, 23.16, 2.09) | |
| 18:72247402 | rs147442601 | N>D | B:376 | (23.39, 20.87, 4.73) |
| 18:72247406 | S>I | B:377 | (24.01, 21.26, 9.83) | |
| 18:72247414 | K>E | B:380 | (24.99, 27.32, 16.95) | |
| 18:72247417 | M>V | B:381 | (29.06, 28.07, 13.45) | |
| 18:72247420 | V>F | B:382 | (29.86, 30.67, 17.04) | |
| 18:72247423 | V>I | B:383 | (33.32, 32.28, 14.73) | |
| 18:72247430 | M>T | B:385 | (38.98, 37.15, 16.74) | |
| 18:72247447 | rs78491213 | P>S | B:391 | (52.30, 42.71, 13.70) |
| 18:72247454 | rs375791616 | I>N | B:393 | (58.89, 45.37, 12.15) |
| 18:72247471 | rs555175958 | T>A | B:399 | (70.71, 53.56, 17.77) |
| 18:72247498 | rs145240287 | I>V | B:408 | (75.32, 41.25, 24.79) |
| 18:72250812 | P>R | B:416 | (74.58, 40.48, 18.96) | |
| 18:72250823 | rs149508413 | R>W | B:420 | (61.92, 38.92, 12.50) |
| 18:72250828 | D>E | B:421 | (60.28, 35.84, 17.52) | |
| 18:72250832 | S>P | B:423 | (56.30, 35.27, 19.18) | |
| 18:72250845 | I>T | B:427 | (53.92, 46.37, 24.78) | |
| 18:72250851 | K>R | B:429 | (52.48, 47.83, 17.39) | |
| 18:72250855 | rs372773746 | M>I | B:430 | (51.01, 49.02, 22.43) |
| 18:72250868 | V>I | B:435 | (54.89, 56.35, 22.83) | |
| 18:72250871 | H>N | B:436 | (55.61, 57.67, 18.62) | |
| 18:72250880 | rs144076983 | V>M | B:439 | (61.27, 48.37, 21.33) |
| 18:72250883 | rs111779843 | V>L | B:440 | (65.12, 46.96, 23.26) |
| 18:72250887 | L>P | B:441 | (63.45, 42.74, 22.38) | |
| 18:72250893 | P>L | B:443 | (66.87, 37.65, 24.36) | |
| 18:72250899 | rs370147602 | G>E | B:445 | (66.50, 32.33, 26.47) |
| 18:72250922 | S>A | B:453 | (55.83, 23.50, 27.36) | |
| 18:72250923 | S>L | B:453 | (55.83, 23.50, 27.36) | |
| 18:72250925 | rs186853580 | Q>K | B:454 | (54.99, 19.62, 28.57) |
| 18:72251742 | I>L | B:464 | (72.78, 33.95, 37.05) | |
| 18:72251749 | G>E | B:466 | (71.39, 37.95, 32.88) | |
| 18:72251761 | rs545821136 | F>C | B:470 | (69.40, 42.93, 32.38) |
| 18:72251764 | A>V | B:471 | (73.99, 45.44, 35.00) | |
| 18:72251785 | A>V | B:478 | (74.55, 56.10, 30.87) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:72226663 | COSM3146327 | R>C | B:61 | (60.63, 45.27, 50.95) |
| 18:72228205 | COSM2155308 | R>W | B:114 | (52.49, 16.34, 37.50) |
| 18:72228242 | COSM564457 | T>M | B:126 | (62.87, 21.17, 39.98) |
| 18:72229288 | COSM3146332 | L>R | B:132 | (65.83, 26.07, 36.85) |
| 18:72234468 | COSM3527537 | D>N | B:160 | (74.19, 55.29, 42.20) |
| 18:72234559 | COSM1735241 | R>Q | B:190 | (52.50, 60.72, 32.39) |
| 18:72234631 | COSM1680425 | T>N | B:214 | (64.51, 40.88, 18.89) |
| 18:72238472 | COSM148447 | H>N | B:244 | (23.58, 16.64, 11.69) |
| 18:72244208 | COSM3756206 | D>N | B:290 | (73.80, 24.31, 12.59) |
| 18:72247400 | COSM989879 | R>I | B:375 | (28.80, 19.51, 6.77) |
| 18:72250892 | COSM1718439 | P>S | B:443 | (66.87, 37.65, 24.36) |