General Structure Information
| PDB ID | 1n8s |
| HGNC Gene Label(s) | PNLIP |
| Structure Name | structure of the pancreatic lipase-colipase complex |
| Resolution | 3.04Å |
| Reference | AUTH H.VAN TILBEURGH,L.SARDA,R.VERGER,C.CAMBILLAUTITL STRUCTURE OF THE PANCREATIC LIPASE-PROCOLIPASETITL 2 COMPLEXREF NATURE V. 359 159 1992REFN ISSN 0028-0836PMID 1522902DOI 10.1038/359159A0 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 448 |
| Number Of SNVs | 122 |
| Number Of Permutations | 33920 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.025 |
| p-value | 0.936 |
COSMIC
| Number Of Residues | 448 |
| Number Of SNVs | 11 |
| Number Of Permutations | 13851 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.018 |
| p-value | 0.939 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 122 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.021 |
| p-value | 0.811 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:118306823 | rs568629341 | E>K | A:6 | (43.76, 18.01, 120.65) |
| 10:118306829 | L>F | A:8 | (44.21, 21.38, 114.39) | |
| 10:118306832 | rs371065609 | G>S | A:9 | (44.63, 24.78, 117.04) |
| 10:118306862 | rs201191402 | G>R | A:19 | (32.10, 39.94, 109.43) |
| 10:118306869 | rs140844816 | T>M | A:21 | (29.85, 41.71, 103.82) |
| 10:118306876 | rs149796905 | R>S | A:23 | (32.99, 34.93, 105.68) |
| 10:118306886 | I>V | A:27 | (30.01, 31.07, 112.83) | |
| 10:118306887 | I>T | A:27 | (30.01, 31.07, 112.83) | |
| 10:118306890 | rs144699284 | L>W | A:28 | (33.60, 29.76, 115.60) |
| 10:118306892 | COSM4165389 COSM4165390 |
P>S | A:29 | (35.23, 26.31, 113.82) |
| 10:118306905 | COSM3790495 COSM3790494 |
K>T | A:32 | (36.53, 14.91, 118.12) |
| 10:118306915 | rs558642726 | N>K | A:35 | (35.01, 13.13, 111.63) |
| 10:118306919 | rs142749694 | R>C | A:37 | (36.73, 9.01, 107.71) |
| 10:118306931 | rs76415321 | Y>H | A:41 | (40.70, 4.20, 98.09) |
| 10:118306934 | rs147154871 | T>A | A:42 | (46.10, 2.02, 96.51) |
| 10:118306952 | N>Y | A:48 | (38.05, -1.86, 99.72) | |
| 10:118306959 | Q>R | A:50 | (43.77, 1.39, 103.90) | |
| 10:118307878 | A>T | A:53 | (46.52, 8.61, 110.05) | |
| 10:118307881 | rs374563946 | A>T | A:54 | (48.94, 11.37, 111.22) |
| 10:118307885 | rs11549160 | D>G | A:55 | (49.94, 7.91, 113.18) |
| 10:118307887 | S>T | A:56 | (53.47, 5.88, 112.45) | |
| 10:118307924 | rs373984432 | R>I | A:68 | (52.95, 5.52, 95.47) |
| 10:118307929 | COSM915152 COSM1584788 |
T>A | A:70 | (49.85, 11.71, 97.68) |
| 10:118307932 | rs572893986 | R>C | A:71 | (47.09, 12.75, 93.45) |
| 10:118307933 | COSM342745 | R>L | A:71 | (47.09, 12.75, 93.45) |
| 10:118307939 | I>T | A:73 | (39.94, 13.45, 96.68) | |
| 10:118307941 | I>V | A:74 | (38.64, 17.61, 99.62) | |
| 10:118307944 | rs368162708 | H>N | A:75 | (33.73, 16.15, 100.44) |
| 10:118307951 | F>S | A:77 | (26.59, 19.30, 96.93) | |
| 10:118307984 | N>S | A:88 | (35.07, 6.88, 90.61) | |
| 10:118310613 | COSM1221349 COSM1221350 |
L>V | A:93 | (44.28, 8.02, 89.26) |
| 10:118310626 | E>A | A:97 | (48.83, 7.11, 88.37) | |
| 10:118310631 | V>L | A:99 | (48.48, 6.83, 93.35) | |
| 10:118310634 | rs201397700 | N>D | A:100 | (49.23, 7.44, 97.40) |
| 10:118310638 | C>S | A:101 | (44.07, 7.94, 96.52) | |
| 10:118310646 | V>L | A:104 | (38.96, 13.66, 102.56) | |
| 10:118310658 | G>S | A:108 | (29.97, 15.98, 109.65) | |
| 10:118310659 | G>V | A:108 | (29.97, 15.98, 109.65) | |
| 10:118310662 | G>D | A:109 | (30.86, 18.97, 108.94) | |
| 10:118310668 | R>Q | A:111 | (26.37, 15.76, 107.69) | |
| 10:118310686 | A>V | A:117 | (30.64, 24.50, 106.73) | |
| 10:118310697 | I>V | A:121 | (36.38, 24.17, 105.58) | |
| 10:118310706 | COSM3720328 COSM3720327 |
V>M | A:124 | (39.33, 19.80, 106.64) |
| 10:118310721 | A>S | A:129 | (48.29, 20.09, 106.80) | |
| 10:118310728 | F>S | A:131 | (48.50, 13.08, 106.54) | |
| 10:118313240 | S>L | A:137 | (58.39, 14.63, 109.70) | |
| 10:118313243 | A>V | A:138 | (58.17, 11.11, 109.53) | |
| 10:118313249 | rs148864963 | G>D | A:140 | (60.47, 12.98, 104.07) |
| 10:118313254 | S>A | A:142 | (57.83, 16.54, 99.74) | |
| 10:118313257 | P>S | A:143 | (55.22, 18.57, 100.11) | |
| 10:118313266 | rs200040515 | V>M | A:146 | (51.09, 16.62, 97.67) |
| 10:118313271 | H>Q | A:147 | (46.93, 16.93, 93.71) | |
| 10:118313299 | rs201757600 | A>T | A:157 | (39.92, 23.13, 102.18) |
| 10:118313336 | rs78536862 | I>T | A:169 | (51.22, 21.77, 98.37) |
| 10:118313341 | rs199957067 COSM4011922 COSM4011921 |
R>C | A:171 | (48.00, 20.15, 91.17) |
| 10:118313350 | G>R | A:174 | (39.59, 23.34, 91.87) | |
| 10:118314699 | COSM381307 | P>L | A:177 | (35.22, 27.02, 93.67) |
| 10:118314704 | E>Q | A:179 | (29.86, 32.20, 95.09) | |
| 10:118314707 | P>S | A:180 | (28.83, 31.17, 98.84) | |
| 10:118314708 | P>H | A:180 | (28.83, 31.17, 98.84) | |
| 10:118314728 | E>K | A:187 | (43.91, 36.08, 99.38) | |
| 10:118314738 | rs149884015 | R>Q | A:190 | (40.29, 33.30, 98.31) |
| 10:118314743 | D>H | A:192 | (44.99, 31.81, 96.38) | |
| 10:118314746 | rs373869947 | P>T | A:193 | (47.18, 31.50, 93.47) |
| 10:118314752 | D>N | A:195 | (47.22, 28.20, 98.46) | |
| 10:118314759 | rs564740062 | K>R | A:197 | (54.46, 25.74, 94.57) |
| 10:118314780 | COSM537603 COSM3978126 COSM1139328 COSM3978125 |
T>M | A:204 | (31.35, 24.78, 85.92) |
| 10:118314797 | V>I | A:210 | (21.60, 35.32, 94.18) | |
| 10:118314800 | P>S | A:211 | (19.57, 35.60, 90.99) | |
| 10:118314807 | L>W | A:213 | (21.08, 28.96, 91.95) | |
| 10:118314809 | G>W | A:214 | (25.71, 30.00, 91.27) | |
| 10:118314913 | S>R | A:218 | (33.20, 33.32, 88.93) | |
| 10:118314920 | V>M | A:221 | (41.09, 31.39, 91.97) | |
| 10:118314968 | C>R | A:237 | (22.97, 20.66, 82.71) | |
| 10:118314983 | L>F | A:242 | (15.51, 32.72, 88.74) | |
| 10:118314990 | Q>R | A:244 | (15.62, 37.61, 93.47) | |
| 10:118315002 | rs377358755 | I>R | A:248 | (22.55, 29.01, 100.65) |
| 10:118315007 | rs62623373 | G>R | A:250 | (18.76, 24.39, 101.74) |
| 10:118315016 | rs370302522 | E>K | A:253 | (20.63, 21.34, 104.58) |
| 10:118315019 | G>W | A:254 | (18.15, 19.56, 101.04) | |
| 10:118315518 | R>Q | A:256 | (14.54, 24.13, 99.80) | |
| 10:118315523 | F>L | A:258 | (20.80, 22.65, 93.28) | |
| 10:118315527 | rs113176766 | A>V | A:259 | (20.60, 21.72, 89.99) |
| 10:118315574 | V>I | A:275 | (41.09, 8.56, 80.72) | |
| 10:118315596 | rs146995349 | G>E | A:282 | (42.86, 25.13, 76.25) |
| 10:118315602 | P>L | A:284 | (43.94, 30.99, 74.93) | |
| 10:118315611 | S>C | A:287 | (35.87, 35.38, 75.94) | |
| 10:118315619 | V>I | A:290 | (35.95, 35.71, 71.42) | |
| 10:118318691 | COSM683186 COSM1146398 |
G>E | A:302 | (52.93, 26.74, 73.74) |
| 10:118318694 | G>D | A:303 | (50.30, 25.42, 73.84) | |
| 10:118318697 | C>F | A:304 | (47.07, 24.31, 74.83) | |
| 10:118318700 | P>Q | A:305 | (46.33, 24.19, 78.46) | |
| 10:118318708 | COSM1221343 COSM1221344 |
G>S | A:308 | (42.96, 19.02, 84.50) |
| 10:118318711 | rs371562352 | H>N | A:309 | (45.22, 14.63, 85.88) |
| 10:118318754 | Q>R | A:323 | (46.73, 32.06, 83.04) | |
| 10:118318760 | F>C | A:325 | (43.06, 28.92, 79.45) | |
| 10:118318771 | T>P | A:329 | (32.70, 19.69, 76.57) | |
| 10:118318780 | A>T | A:332 | (28.46, 13.06, 78.18) | |
| 10:118318795 | COSM39500 COSM1560940 COSM1346012 COSM1560939 |
R>C | A:337 | (34.58, 16.85, 72.24) |
| 10:118319968 | K>N | A:350 | (25.68, 31.45, 42.52) | |
| 10:118319969 | rs202075908 | V>I | A:351 | (24.03, 27.57, 44.74) |
| 10:118319978 | H>Y | A:354 | (23.45, 23.79, 53.96) | |
| 10:118320012 | rs377432333 | N>S | A:365 | (35.55, 8.95, 60.61) |
| 10:118320014 | S>P | A:366 | (34.15, 12.69, 61.35) | |
| 10:118320020 | Q>K | A:368 | (28.67, 15.05, 57.66) | |
| 10:118320035 | rs372952955 | K>Q | A:373 | (23.62, 28.23, 56.34) |
| 10:118320988 | rs139292695 | T>S | A:375 | (25.26, 32.25, 48.96) |
| 10:118320995 | K>R | A:377 | (29.57, 33.22, 45.97) | |
| 10:118321015 | N>D | A:384 | (33.83, 26.58, 61.09) | |
| 10:118321016 | N>S | A:384 | (33.83, 26.58, 61.09) | |
| 10:118321026 | rs149567242 | D>E | A:387 | (33.97, 20.78, 68.86) |
| 10:118321030 | D>Y | A:389 | (33.29, 13.18, 68.75) | |
| 10:118321031 | rs369523204 | D>A | A:389 | (33.29, 13.18, 68.75) |
| 10:118321039 | rs140196701 | V>I | A:392 | (41.17, 11.94, 63.15) |
| 10:118321040 | rs534482637 | V>A | A:392 | (41.17, 11.94, 63.15) |
| 10:118321046 | D>G | A:394 | (47.57, 12.25, 61.09) | |
| 10:118321055 | rs111319548 | M>K | A:397 | (40.58, 11.49, 53.16) |
| 10:118321063 | COSM683182 COSM1146402 |
F>I | A:400 | (32.10, 19.15, 49.61) |
| 10:118321067 | I>T | A:401 | (28.39, 17.21, 51.20) | |
| 10:118321071 | W>C | A:402 | (25.40, 20.87, 47.28) | |
| 10:118321099 | rs187663045 | P>S | A:413 | (23.15, 22.28, 40.32) |
| 10:118321117 | K>E | A:419 | (42.01, 24.24, 48.80) | |
| 10:118321124 | I>T | A:421 | (42.76, 24.06, 54.67) | |
| 10:118321127 | V>A | A:422 | (42.44, 20.83, 58.15) | |
| 10:118321132 | T>A | A:424 | (45.22, 20.99, 64.00) | |
| 10:118327253 | rs370443086 | N>K | A:431 | (46.38, 21.24, 52.31) |
| 10:118327276 | R>K | A:439 | (23.70, 17.45, 42.22) | |
| 10:118327296 | L>F | A:446 | (38.97, 16.36, 48.67) | |
| 10:118327306 | C>Y | A:449 | (47.76, 19.45, 47.97) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:118306827 | COSM537606 | R>K | A:7 | (45.59, 17.73, 116.20) |
| 10:118306869 | COSM1474385 | T>M | A:21 | (29.85, 41.71, 103.82) |
| 10:118306871 | COSM3709766 | E>K | A:22 | (31.49, 38.71, 102.02) |
| 10:118306878 | COSM1504423 | P>H | A:24 | (28.64, 38.10, 108.12) |
| 10:118307955 | COSM216914 | I>M | A:78 | (27.74, 14.91, 98.36) |
| 10:118313243 | COSM4637567 | A>V | A:138 | (58.17, 11.11, 109.53) |
| 10:118313248 | COSM427109 | G>S | A:140 | (60.47, 12.98, 104.07) |
| 10:118313341 | COSM4011922 | R>C | A:171 | (48.00, 20.15, 91.17) |
| 10:118314792 | COSM4504782 | P>L | A:208 | (25.30, 34.33, 89.70) |
| 10:118315008 | COSM1703124 | G>E | A:250 | (18.76, 24.39, 101.74) |
| 10:118315527 | COSM3934939 | A>V | A:259 | (20.60, 21.72, 89.99) |
| 10:118318795 | COSM1560940 | R>S | A:337 | (34.58, 16.85, 72.24) |
| 10:118327281 | COSM3434503 | E>K | A:441 | (22.62, 15.02, 48.72) |