General Structure Information
| PDB ID | 1aye |
| HGNC Gene Label(s) | CPA2 |
| Structure Name | human procarboxypeptidase a2 |
| Resolution | 1.8Å |
| Reference | AUTH I.GARCIA-SAEZ,D.REVERTER,J.VENDRELL,F.X.AVILES,AUTH 2 M.COLLTITL THE THREE-DIMENSIONAL STRUCTURE OF HUMANTITL 2 PROCARBOXYPEPTIDASE A2. DECIPHERING THE BASIS OFTITL 3 THE INHIBITION, ACTIVATION AND INTRINSIC ACTIVITYTITL 4 OF THE ZYMOGEN.REF EMBO J. V. 16 6906 1997REFN ISSN 0261-4189PMID 9384570DOI 10.1093/EMBOJ/16.23.6906 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 309 |
| Number Of SNVs | 85 |
| Number Of Permutations | 13633 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.023 |
| p-value | 0.754 |
COSMIC
| Number Of Residues | 309 |
| Number Of SNVs | 3 |
| Number Of Permutations | 162 |
| Optimal Distance Threshold | 39.0 |
| K Statistic | 0.333 |
| p-value | 0.112 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:129910581 | E>Q | A:1 | (-5.55, -16.94, 28.34) | |
| 7:129910584 | COSM3381729 | R>W | A:2 | (-10.77, -19.82, 25.33) |
| 7:129910585 | COSM1085510 | R>Q | A:2 | (-10.77, -19.82, 25.33) |
| 7:129910603 | F>S | A:9 | (12.65, -16.96, 2.50) | |
| 7:129910603 | F>S | A:9 | (1.79, -11.58, 32.63) | |
| 7:129910606 | G>V | A:10 | (4.42, -15.25, 28.83) | |
| 7:129910606 | G>V | A:10 | (12.54, -13.62, 3.79) | |
| 7:129910618 | T>I | A:14 | (25.75, -10.42, 10.57) | |
| 7:129910618 | T>I | A:14 | (-4.25, -8.68, 21.60) | |
| 7:129912919 | S>A | A:19 | (35.68, 0.38, 4.81) | |
| 7:129912919 | S>A | A:19 | (-6.60, -3.19, 27.59) | |
| 7:129912936 | N>K | A:24 | (-8.48, -6.54, 35.40) | |
| 7:129912936 | N>K | A:24 | (29.16, 5.65, 1.41) | |
| 7:129912938 | L>P | A:25 | (28.15, 1.04, -0.37) | |
| 7:129912938 | L>P | A:25 | (-4.14, -4.26, 37.45) | |
| 7:129912946 | rs370654440 | E>K | A:28 | (-8.26, -6.25, 41.25) |
| 7:129912946 | rs370654440 | E>K | A:28 | (23.89, 3.91, -1.23) |
| 7:129912949 | H>Y | A:29 | (-4.73, -3.48, 42.83) | |
| 7:129912949 | H>Y | A:29 | (21.42, -0.59, -0.21) | |
| 7:129912961 | V>M | A:33 | (-3.60, 1.49, 40.20) | |
| 7:129912961 | V>M | A:33 | (11.90, 3.20, -1.41) | |
| 7:129912962 | V>E | A:33 | (11.90, 3.20, -1.41) | |
| 7:129912962 | V>E | A:33 | (-3.60, 1.49, 40.20) | |
| 7:129912965 | rs139150196 | S>N | A:34 | (15.80, -2.56, -3.14) |
| 7:129912965 | rs139150196 | S>N | A:34 | (-4.91, 4.83, 38.00) |
| 7:129912965 | rs139150196 | S>N | A:34 | (11.22, -4.04, -0.93) |
| 7:129912965 | rs139150196 | S>N | A:34 | (11.93, 1.62, -4.80) |
| 7:129912974 | N>I | A:37 | (18.70, -2.33, 7.00) | |
| 7:129912974 | N>I | A:37 | (-6.78, 9.45, 28.57) | |
| 7:129912986 | S>F | A:41 | (24.54, 0.99, 8.93) | |
| 7:129912986 | S>F | A:41 | (-4.48, 7.51, 18.02) | |
| 7:129912991 | rs76509864 | E>K | A:43 | (-6.24, 4.62, 13.48) |
| 7:129912998 | rs202062837 | R>Q | A:45 | (-6.75, 2.87, 18.27) |
| 7:129913003 | M>V | A:47 | (-2.91, 7.16, 24.38) | |
| 7:129913003 | M>V | A:47 | (30.90, 2.33, 12.56) | |
| 7:129913015 | K>Q | A:51 | (-1.24, 7.27, 38.43) | |
| 7:129913015 | K>Q | A:51 | (27.30, -5.52, 13.00) | |
| 7:129913016 | K>M | A:51 | (27.30, -5.52, 13.00) | |
| 7:129913016 | K>M | A:51 | (-1.24, 7.27, 38.43) | |
| 7:129914998 | rs371899087 | G>R | A:55 | (-0.36, 10.28, 46.75) |
| 7:129914998 | rs371899087 | G>R | A:55 | (13.59, -8.33, 5.78) |
| 7:129915016 | rs61731658 | I>V | A:62 | (9.10, 7.82, 37.25) |
| 7:129915016 | rs61731658 | I>V | A:62 | (20.89, -14.34, -6.23) |
| 7:129915027 | D>E | A:65 | (23.81, -12.85, -1.34) | |
| 7:129915027 | D>E | A:65 | (7.67, 4.37, 27.16) | |
| 7:129915038 | H>P | A:69 | (29.83, -11.39, -3.07) | |
| 7:129915038 | H>P | A:69 | (9.52, 1.60, 17.42) | |
| 7:129915039 | rs553500258 | H>Q | A:69 | (9.52, 1.60, 17.42) |
| 7:129915039 | rs553500258 | H>Q | A:69 | (29.83, -11.39, -3.07) |
| 7:129915040 | A>P | A:70 | (5.38, -1.96, 16.67) | |
| 7:129915040 | A>P | A:70 | (30.90, -7.01, -5.78) | |
| 7:129915044 | R>Q | A:71 | (31.30, -4.11, -3.60) | |
| 7:129915044 | R>Q | A:71 | (9.60, -4.22, 14.14) | |
| 7:129915048 | rs200668634 | E>D | A:72 | (33.65, -7.20, -0.48) |
| 7:129915048 | rs200668634 | E>D | A:72 | (10.17, -3.11, 19.22) |
| 7:129915052 | V>F | A:74 | (9.60, -7.71, 24.30) | |
| 7:129915052 | V>F | A:74 | (31.19, -9.29, 4.67) | |
| 7:129915059 | rs201564383 | Q>P | A:76 | (4.60, -4.12, 24.13) |
| 7:129915059 | rs201564383 | Q>P | A:76 | (26.34, -13.86, 7.50) |
| 7:129915065 | T>M | A:78 | (21.41, -14.03, 11.47) | |
| 7:129915065 | T>M | A:78 | (8.23, -6.10, 29.63) | |
| 7:129915067 | COSM3922696 | A>T | A:79 | (17.51, -15.46, 10.19) |
| 7:129915067 | COSM3922696 | A>T | A:79 | (5.25, -3.40, 30.56) |
| 7:129915073 | rs145868138 | W>G | A:81 | (6.82, -8.67, 34.89) |
| 7:129915073 | rs145868138 | W>G | A:81 | (12.86, -18.79, 6.77) |
| 7:129915079 | COSM1202119 | A>T | A:83 | (7.34, -17.47, 7.73) |
| 7:129915079 | COSM1202119 | A>T | A:83 | (2.59, -3.63, 36.34) |
| 7:129916469 | I>T | A:86 | (4.83, -2.31, 40.72) | |
| 7:129916469 | I>T | A:86 | (5.93, -15.56, 11.99) | |
| 7:129916489 | D>Y | A:93 | (10.27, -4.39, 48.38) | |
| 7:129916489 | D>Y | A:93 | (-0.21, -15.97, 20.13) | |
| 7:129916498 | I>V | A:96 | (-1.83, -18.59, 25.47) | |
| 7:129916498 | I>V | A:96 | (8.89, -0.62, 45.30) | |
| 7:129916505 | S>Y | A:98 | (10.43, 3.74, 49.12) | |
| 7:129916505 | S>Y | A:98 | (-6.99, -23.31, 23.58) | |
| 7:129916523 | D>G | A:104 | (3.93, 9.15, 41.21) | |
| 7:129916538 | rs201088138 | P>L | A:109 | (1.94, -0.03, 27.88) |
| 7:129916540 | V>L | A:110 | (0.77, 0.53, 23.87) | |
| 7:129916553 | D>G | A:114 | (-2.50, 2.51, 15.40) | |
| 7:129916561 | rs139301358 | V>M | A:117 | (-3.25, -3.46, 15.30) |
| 7:129917670 | rs201623522 | R>H | A:124 | (5.86, -8.97, 13.35) |
| 7:129917678 | rs144237288 | R>W | A:127 | (9.77, 1.01, 12.82) |
| 7:129917679 | rs376758146 | R>Q | A:127 | (9.77, 1.01, 12.82) |
| 7:129917687 | rs145958174 | R>W | A:130 | (-0.67, 3.20, 9.64) |
| 7:129917695 | K>N | A:132 | (-2.75, 9.95, 5.12) | |
| 7:129917700 | S>F | A:134 | (-0.39, 15.30, 2.76) | |
| 7:129917717 | G>S | A:140 | (4.14, 7.02, 8.38) | |
| 7:129917723 | D>Y | A:142 | (10.18, 6.96, 13.37) | |
| 7:129917724 | D>V | A:142 | (10.18, 6.96, 13.37) | |
| 7:129917737 | rs554727605 | N>K | A:146 | (8.41, 13.33, 15.55) |
| 7:129917748 | rs139875564 | G>D | A:150 | (17.12, 17.83, 16.04) |
| 7:129919311 | rs552705589 | A>P | A:156 | (16.85, 10.96, 9.53) |
| 7:129919344 | rs373354928 | G>R | A:167 | (8.14, 14.05, 9.45) |
| 7:129919358 | N>K | A:171 | (5.63, 17.08, 18.01) | |
| 7:129919360 | S>C | A:172 | (3.41, 15.34, 13.85) | |
| 7:129919365 | V>F | A:174 | (-1.08, 12.41, 17.90) | |
| 7:129919380 | rs369196272 | I>V | A:179 | (3.86, 11.91, 25.51) |
| 7:129919381 | I>T | A:179 | (3.86, 11.91, 25.51) | |
| 7:129919410 | rs531873384 | V>I | A:189 | (8.72, 14.44, 35.17) |
| 7:129919414 | K>M | A:190 | (12.14, 14.61, 38.11) | |
| 7:129919432 | H>P | A:196 | (13.08, 0.67, 22.28) | |
| 7:129919434 | COSM1548247 | S>G | A:197 | (13.79, -4.10, 20.59) |
| 7:129919454 | M>I | A:203 | (21.13, 4.12, 25.47) | |
| 7:129919461 | COSM3878077 | Y>H | A:206 | (22.59, 14.67, 23.81) |
| 7:129919462 | rs139060151 | Y>C | A:206 | (22.59, 14.67, 23.81) |
| 7:129919474 | C>Y | A:210 | (28.26, 13.31, 19.43) | |
| 7:129921962 | COSM1733109 | A>P | A:226 | (21.80, -1.07, 35.93) |
| 7:129921969 | Q>P | A:228 | (26.64, -4.90, 36.35) | |
| 7:129921987 | rs557844120 | H>P | A:234 | (19.25, -14.46, 33.64) |
| 7:129921989 | G>S | A:235 | (24.17, -12.85, 32.15) | |
| 7:129921990 | G>D | A:235 | (24.17, -12.85, 32.15) | |
| 7:129921993 | T>N | A:236 | (22.35, -10.57, 30.10) | |
| 7:129922010 | P>S | A:242 | (26.25, 7.69, 24.82) | |
| 7:129922019 | S>P | A:245 | (28.62, 6.23, 21.20) | |
| 7:129922027 | I>M | A:247 | (23.90, 3.27, 17.90) | |
| 7:129929447 | K>E | A:264 | (19.21, 14.61, 35.33) | |
| 7:129929450 | Y>N | A:265 | (18.04, 11.16, 36.38) | |
| 7:129929456 | rs200603173 | F>L | A:267 | (18.23, 6.46, 31.22) |
| 7:129929457 | F>S | A:267 | (18.23, 6.46, 31.22) | |
| 7:129929468 | rs146796996 | L>M | A:271 | (15.26, -5.19, 25.48) |
| 7:129929478 | rs199532190 | T>K | A:274 | (22.04, -9.85, 19.91) |
| 7:129929489 | rs550369907 | G>S | A:278 | (15.06, -10.44, 17.34) |
| 7:129929507 | COSM1330079 | R>C | A:284 | (10.37, -20.56, 25.33) |
| 7:129929508 | rs574215245 | R>H | A:284 | (10.37, -20.56, 25.33) |
| 7:129929528 | E>K | A:291 | (12.66, -11.75, 35.65) | |
| 7:129929541 | rs199962603 | L>P | A:295 | (17.09, -5.97, 38.47) |
| 7:129929543 | G>S | A:296 | (17.53, -1.93, 36.31) | |
| 7:129929544 | rs148949036 | G>V | A:296 | (17.53, -1.93, 36.31) |
| 7:129929552 | A>T | A:299 | (18.45, 0.97, 40.04) | |
| 7:129929555 | rs562556003 | I>V | A:300 | (17.34, 3.84, 37.37) |
| 7:129929571 | rs377236326 COSM122323 COSM301979 |
R>Q | A:305 | (14.75, 6.58, 46.38) |
| 7:129929580 | P>R | A:308 | (16.61, 14.99, 44.99) | |
| 7:129929583 | rs370431439 | Y>C | A:309 | (15.96, 17.06, 39.84) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:129910584 | COSM3381729 | R>W | A:2 | (-10.77, -19.82, 25.33) |
| 7:129917687 | COSM1730479 | R>W | A:130 | (-0.67, 3.20, 9.64) |
| 7:129929571 | COSM301979 | R>L | A:305 | (14.75, 6.58, 46.38) |