General Structure Information
| PDB ID | 2ppl |
| HGNC Gene Label(s) | PNLIPRP1 |
| Structure Name | human pancreatic lipase-related protein 1 |
| Resolution | 2.2Å |
| Reference | AUTH J.R.WALKER,T.DAVIS,A.SEITOVA,C.BUTLER-COLE,AUTH 2 J.WEIGELT,M.SUNDSTROM,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 3 A.BOCHKAREV,S.DHE-PAGANONTITL STRUCTURE OF THE HUMAN PANCREATIC LIPASE-RELATEDTITL 2 PROTEIN 1.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 447 |
| Number Of SNVs | 128 |
| Number Of Permutations | 35461 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.012 |
| p-value | 0.767 |
COSMIC
| Number Of Residues | 447 |
| Number Of SNVs | 10 |
| Number Of Permutations | 4301 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.022 |
| p-value | 0.646 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 128 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | -0.072 |
| p-value | 0.866 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:118351298 | Y>C | A:22 | (33.71, -14.48, 4.85) | |
| 10:118351301 | COSM3978129 | E>G | A:23 | (31.25, -14.36, -1.94) |
| 10:118351324 | T>P | A:31 | (36.56, -4.77, 16.68) | |
| 10:118351328 | E>V | A:32 | (35.48, -2.45, 20.65) | |
| 10:118351339 | rs116575931 | G>R | A:36 | (37.87, -6.22, 23.67) |
| 10:118351346 | A>E | A:38 | (34.46, -6.72, 29.26) | |
| 10:118351353 | R>S | A:40 | (32.17, -10.26, 23.11) | |
| 10:118351354 | P>S | A:41 | (37.40, -10.47, 26.19) | |
| 10:118351375 | rs150961372 | S>G | A:48 | (33.96, -19.94, 7.16) |
| 10:118351376 | rs114250024 | S>I | A:48 | (33.96, -19.94, 7.16) |
| 10:118351386 | K>N | A:51 | (34.77, -24.24, 9.49) | |
| 10:118351388 | I>T | A:52 | (29.63, -22.54, 9.64) | |
| 10:118351390 | COSM3866613 | G>S | A:53 | (27.41, -25.14, 7.18) |
| 10:118351394 | rs116664931 | T>I | A:54 | (24.60, -22.85, 6.92) |
| 10:118351399 | F>L | A:56 | (19.01, -22.19, 4.53) | |
| 10:118351414 | rs11197744 | N>D | A:61 | (1.81, -27.96, 4.47) |
| 10:118351415 | N>S | A:61 | (1.81, -27.96, 4.47) | |
| 10:118351421 | N>S | A:63 | (7.40, -30.93, 2.09) | |
| 10:118351432 | COSM163586 | F>L | A:67 | (15.40, -31.93, 3.78) |
| 10:118351928 | I>V | A:69 | (18.20, -28.20, -0.02) | |
| 10:118351946 | P>T | A:75 | (18.77, -18.68, -6.23) | |
| 10:118351962 | A>E | A:80 | (12.23, -25.89, -7.48) | |
| 10:118351965 | S>L | A:81 | (10.72, -25.52, -4.22) | |
| 10:118351967 | N>H | A:82 | (6.41, -26.54, -2.46) | |
| 10:118351971 | F>S | A:83 | (8.64, -20.88, -1.06) | |
| 10:118351974 | Q>R | A:84 | (3.92, -21.72, -2.01) | |
| 10:118351982 | R>G | A:87 | (1.90, -20.69, 1.61) | |
| 10:118351991 | R>W | A:90 | (6.50, -18.74, 10.53) | |
| 10:118351992 | rs141478509 | R>Q | A:90 | (6.50, -18.74, 10.53) |
| 10:118351997 | I>V | A:92 | (12.87, -22.51, 12.97) | |
| 10:118352004 | H>R | A:94 | (20.16, -24.26, 16.03) | |
| 10:118352013 | I>T | A:97 | (21.00, -28.99, 20.42) | |
| 10:118352029 | E>D | A:102 | (18.23, -33.86, 18.54) | |
| 10:118352036 | V>L | A:105 | (12.89, -27.54, 14.70) | |
| 10:118352052 | K>R | A:110 | (5.41, -31.50, 11.95) | |
| 10:118354246 | rs147011860 | L>P | A:112 | (3.15, -24.30, 12.47) |
| 10:118354251 | E>K | A:114 | (-1.80, -29.04, 13.28) | |
| 10:118354254 | V>M | A:115 | (-2.71, -24.01, 12.46) | |
| 10:118354278 | rs62641720 | V>M | A:123 | (18.59, -22.60, 10.11) |
| 10:118354289 | COSM3434507 | K>N | A:126 | (24.70, -28.30, 14.03) |
| 10:118354312 | T>I | A:134 | (33.57, -17.65, 22.42) | |
| 10:118354329 | COSM683177 | V>M | A:140 | (26.02, -15.52, 15.27) |
| 10:118354344 | rs115980087 | A>T | A:145 | (24.27, -12.87, 7.21) |
| 10:118354348 | Q>R | A:146 | (24.26, -16.98, 5.90) | |
| 10:118354351 | V>E | A:147 | (19.30, -15.48, 7.26) | |
| 10:118354359 | M>V | A:150 | (17.72, -16.48, 1.85) | |
| 10:118354362 | L>F | A:151 | (15.40, -12.60, 3.73) | |
| 10:118354369 | I>N | A:153 | (17.61, -14.10, -2.49) | |
| 10:118354371 | rs141881462 | L>F | A:154 | (13.04, -14.35, -1.06) |
| 10:118354376 | L>F | A:155 | (12.94, -8.81, -1.89) | |
| 10:118355732 | Y>H | A:158 | (11.93, -15.57, -6.20) | |
| 10:118355736 | S>N | A:159 | (8.92, -10.25, -5.25) | |
| 10:118355747 | rs141916863 | S>A | A:163 | (6.32, -8.68, 5.52) |
| 10:118355748 | rs146399687 | S>F | A:163 | (6.32, -8.68, 5.52) |
| 10:118355756 | H>Y | A:166 | (8.44, -15.42, 12.55) | |
| 10:118355762 | I>V | A:168 | (11.42, -18.79, 15.51) | |
| 10:118355768 | H>Y | A:170 | (16.50, -21.75, 21.46) | |
| 10:118355780 | rs139392611 | A>P | A:174 | (18.10, -15.40, 19.02) |
| 10:118355786 | V>M | A:176 | (21.11, -15.54, 14.53) | |
| 10:118355798 | A>T | A:180 | (19.05, -10.87, 10.37) | |
| 10:118355799 | A>G | A:180 | (19.05, -10.87, 10.37) | |
| 10:118355801 | G>R | A:181 | (17.23, -8.06, 11.12) | |
| 10:118355802 | G>E | A:181 | (17.23, -8.06, 11.12) | |
| 10:118357343 | L>S | A:193 | (12.81, -18.95, 22.24) | |
| 10:118357378 | COSM1581489 COSM1504416 |
E>K | A:205 | (20.96, -2.21, 20.12) |
| 10:118357379 | E>A | A:205 | (20.96, -2.21, 20.12) | |
| 10:118357388 | rs116567197 | R>Q | A:208 | (21.38, -7.06, 22.10) |
| 10:118357390 | rs190919706 | L>F | A:209 | (17.62, -9.75, 20.23) |
| 10:118357408 | COSM3866614 | D>N | A:215 | (8.35, -4.46, 12.76) |
| 10:118357430 | T>M | A:222 | (12.91, -20.00, 30.69) | |
| 10:118357435 | A>T | A:224 | (17.21, -15.87, 33.80) | |
| 10:118357436 | A>V | A:224 | (17.21, -15.87, 33.80) | |
| 10:118357439 | A>D | A:225 | (19.56, -16.77, 36.16) | |
| 10:118357453 | F>L | A:230 | (22.44, -18.90, 40.45) | |
| 10:118357565 | G>E | A:234 | (19.75, -16.98, 30.21) | |
| 10:118357568 | rs147786434 | T>M | A:235 | (18.72, -13.15, 29.57) |
| 10:118357579 | M>V | A:239 | (16.30, -8.75, 24.40) | |
| 10:118357585 | rs146924435 | H>D | A:241 | (8.77, -4.69, 21.04) |
| 10:118357601 | P>H | A:246 | (7.41, -17.72, 32.30) | |
| 10:118357604 | N>S | A:247 | (6.84, -19.64, 35.98) | |
| 10:118357618 | M>V | A:252 | (10.53, -23.19, 35.02) | |
| 10:118357622 | P>L | A:253 | (7.51, -25.69, 36.64) | |
| 10:118357624 | G>R | A:254 | (9.66, -29.69, 36.33) | |
| 10:118357628 | rs151014655 | C>Y | A:255 | (12.61, -28.21, 35.93) |
| 10:118357632 | K>N | A:256 | (15.52, -31.15, 38.57) | |
| 10:118357638 | N>K | A:258 | (21.71, -26.40, 37.41) | |
| 10:118357643 | L>P | A:260 | (25.05, -23.13, 42.98) | |
| 10:118357648 | Q>E | A:262 | (31.54, -19.31, 41.73) | |
| 10:118357654 | rs114165255 | V>M | A:264 | (31.16, -21.87, 34.27) |
| 10:118357663 | D>N | A:267 | (33.81, -24.37, 26.33) | |
| 10:118357664 | D>G | A:267 | (33.81, -24.37, 26.33) | |
| 10:118357669 | I>V | A:269 | (28.10, -26.92, 29.15) | |
| 10:118359561 | rs150148236 | T>A | A:273 | (31.71, -32.70, 27.95) |
| 10:118359564 | R>W | A:274 | (31.53, -30.35, 32.39) | |
| 10:118359565 | R>P | A:274 | (31.53, -30.35, 32.39) | |
| 10:118359568 | D>G | A:275 | (26.69, -32.60, 33.39) | |
| 10:118359600 | K>E | A:286 | (8.87, -27.54, 25.27) | |
| 10:118359611 | COSM365620 | L>F | A:289 | (5.53, -26.31, 20.63) |
| 10:118359616 | S>T | A:291 | (0.95, -21.91, 21.79) | |
| 10:118359621 | L>F | A:293 | (-2.57, -26.33, 19.19) | |
| 10:118359627 | P>S | A:295 | (-5.07, -20.02, 21.31) | |
| 10:118359672 | E>Q | A:310 | (2.72, -14.65, 42.76) | |
| 10:118360596 | P>S | A:316 | (-7.52, -8.26, 35.97) | |
| 10:118360597 | P>L | A:316 | (-7.52, -8.26, 35.97) | |
| 10:118360626 | G>S | A:326 | (3.86, -16.83, 21.76) | |
| 10:118360647 | A>S | A:333 | (-3.03, -4.48, 20.52) | |
| 10:118360648 | A>V | A:333 | (-3.03, -4.48, 20.52) | |
| 10:118360666 | E>G | A:339 | (8.73, 1.02, 25.37) | |
| 10:118360667 | E>D | A:339 | (8.73, 1.02, 25.37) | |
| 10:118360687 | N>I | A:346 | (2.09, -19.11, 36.23) | |
| 10:118360696 | E>G | A:349 | (3.91, -29.76, 35.83) | |
| 10:118360710 | A>T | A:354 | (-1.96, -24.55, 30.03) | |
| 10:118360713 | R>C | A:355 | (-2.29, -23.96, 33.62) | |
| 10:118363544 | W>R | A:356 | (-6.80, -21.23, 31.09) | |
| 10:118363545 | rs76505034 | W>L | A:356 | (-6.80, -21.23, 31.09) |
| 10:118363549 | R>S | A:357 | (-4.30, -16.10, 37.46) | |
| 10:118363556 | V>I | A:360 | (-11.55, -15.69, 44.43) | |
| 10:118363560 | S>Y | A:361 | (-13.52, -13.21, 47.03) | |
| 10:118363569 | L>P | A:364 | (-16.22, -16.44, 55.93) | |
| 10:118363590 | G>D | A:371 | (-8.41, -23.32, 58.43) | |
| 10:118363613 | G>R | A:379 | (-19.17, -24.75, 33.99) | |
| 10:118363622 | G>R | A:382 | (-16.36, -27.27, 33.17) | |
| 10:118363629 | T>I | A:384 | (-12.04, -26.45, 38.70) | |
| 10:118364914 | rs116840175 | G>S | A:397 | (-17.21, -11.51, 57.77) |
| 10:118364929 | Y>N | A:402 | (-5.14, -16.79, 46.22) | |
| 10:118364930 | Y>C | A:402 | (-5.14, -16.79, 46.22) | |
| 10:118364947 | L>V | A:408 | (-10.10, -25.44, 32.63) | |
| 10:118364948 | COSM3966902 | L>P | A:408 | (-10.10, -25.44, 32.63) |
| 10:118364952 | D>E | A:409 | (-12.06, -21.64, 30.13) | |
| 10:118364953 | V>I | A:410 | (-14.93, -23.02, 33.16) | |
| 10:118364954 | V>D | A:410 | (-14.93, -23.02, 33.16) | |
| 10:118364963 | I>T | A:413 | (-19.07, -19.51, 36.25) | |
| 10:118364965 | E>K | A:414 | (-23.45, -21.91, 36.19) | |
| 10:118364967 | rs2305204 | E>D | A:414 | (-23.45, -21.91, 36.19) |
| 10:118364975 | K>M | A:417 | (-18.65, -26.64, 44.86) | |
| 10:118364978 | F>C | A:418 | (-16.72, -23.26, 50.94) | |
| 10:118364999 | I>K | A:425 | (-9.59, -33.35, 66.78) | |
| 10:118365013 | P>S | A:430 | (-17.54, -26.74, 63.78) | |
| 10:118365025 | A>T | A:434 | (-20.19, -18.60, 52.42) | |
| 10:118365026 | rs139527549 | A>D | A:434 | (-20.19, -18.60, 52.42) |
| 10:118365047 | K>T | A:441 | (-12.70, -15.27, 33.96) | |
| 10:118365062 | T>I | A:446 | (-17.95, -10.20, 34.15) | |
| 10:118368567 | Y>C | A:448 | (-19.07, -14.58, 37.01) | |
| 10:118368587 | T>S | A:455 | (-23.29, -23.54, 57.07) | |
| 10:118368606 | rs1049125 | L>P | A:461 | (-18.66, -29.77, 49.02) |
| 10:118368612 | T>I | A:463 | (-23.31, -25.47, 46.35) | |
| 10:118368614 | L>V | A:464 | (-22.33, -21.12, 46.34) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:118354325 | COSM1675595 | N>K | A:138 | (31.73, -14.52, 17.29) |
| 10:118355811 | COSM1603017 | T>I | A:184 | (16.18, -7.33, 7.13) |
| 10:118357393 | COSM1262602 | D>N | A:210 | (17.17, -5.29, 19.54) |
| 10:118359658 | COSM1686139 | S>F | A:305 | (7.25, -8.10, 39.63) |
| 10:118360655 | COSM218264 | R>S | A:335 | (3.10, -2.52, 20.52) |
| 10:118363546 | COSM1603018 | W>C | A:356 | (-6.80, -21.23, 31.09) |
| 10:118364914 | COSM1581491 | G>S | A:397 | (-17.21, -11.51, 57.77) |
| 10:118364967 | COSM3997766 | E>D | A:414 | (-23.45, -21.91, 36.19) |
| 10:118368581 | COSM3434515 | E>K | A:453 | (-28.81, -18.21, 53.83) |
| 10:118368606 | COSM4985898 | L>P | A:461 | (-18.66, -29.77, 49.02) |