General Structure Information
| PDB ID | 2boa |
| HGNC Gene Label(s) | CPA4 |
| Structure Name | human procarboxypeptidase a4. |
| Resolution | 2.2Å |
| Reference | AUTH R.GARCIA-CASTELLANOS,R.BONET-FIGUEREDO,I.PALLARES,AUTH 2 S.VENTURA,F.X.AVILES,J.VENDRELL,F.X.GOMIS-RUTHTITL DETAILED MOLECULAR COMPARISON BETWEEN THETITL 2 INHIBITION MODE OF A/B-TYPE CARBOXYPEPTIDASES INTITL 3 THE ZYMOGEN STATE AND BY THE ENDOGENOUS INHIBITORTITL 4 LATEXIN.REF CELL.MOL.LIFE SCI. V. 62 1996 2005REFN ISSN 1420-682XPMID 16091843DOI 10.1007/S00018-005-5174-4 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 400 |
| Number Of SNVs | 125 |
| Number Of Permutations | 55106 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.13 |
| p-value | 0.069 |
COSMIC
| Number Of Residues | 400 |
| Number Of SNVs | 9 |
| Number Of Permutations | 2555 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.25 |
| p-value | 0.4 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 125 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.023 |
| p-value | 0.862 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:129933088 | rs374917197 | G>V | B:9 | (4.72, -19.68, -38.45) |
| 7:129938596 | L>M | B:13 | (6.69, -31.02, -37.24) | |
| 7:129938598 | rs34587586 | L>F | B:13 | (6.69, -31.02, -37.24) |
| 7:129938601 | R>S | B:14 | (3.27, -36.57, -38.49) | |
| 7:129938611 | R>G | B:18 | (12.89, -46.39, -35.74) | |
| 7:129938615 | N>S | B:19 | (14.64, -46.60, -31.37) | |
| 7:129938645 | L>P | B:29 | (13.96, -31.36, -26.02) | |
| 7:129938662 | L>V | B:33 | (12.44, -24.81, -28.19) | |
| 7:129939110 | L>I | B:35 | (7.92, -27.60, -28.22) | |
| 7:129939117 | F>Y | B:37 | (4.24, -33.14, -27.66) | |
| 7:129939119 | rs545966895 | W>R | B:38 | (-1.26, -30.55, -32.05) |
| 7:129939126 | S>C | B:40 | (2.52, -38.15, -27.84) | |
| 7:129939135 | rs564029769 | S>Y | B:47 | (5.61, -46.72, -29.05) |
| 7:129939143 | R>W | B:50 | (1.99, -45.56, -33.64) | |
| 7:129939149 | rs147300611 | V>M | B:52 | (5.12, -37.59, -32.89) |
| 7:129939153 | D>G | B:53 | (2.13, -34.78, -34.04) | |
| 7:129939161 | rs372031946 | V>I | B:56 | (7.22, -25.74, -33.73) |
| 7:129939177 | L>P | B:61 | (11.14, -23.69, -36.96) | |
| 7:129939179 | rs546291221 COSM452331 |
Q>K | B:62 | (16.84, -22.56, -37.34) |
| 7:129939188 | K>E | B:65 | (13.58, -28.14, -38.51) | |
| 7:129939206 | Q>E | B:71 | (19.69, -36.93, -32.32) | |
| 7:129939221 | rs61731647 | A>T | B:76 | (7.05, -33.70, -41.65) |
| 7:129939231 | I>T | B:79 | (0.45, -27.73, -40.19) | |
| 7:129940680 | E>K | B:92 | (-15.51, -20.42, -41.10) | |
| 7:129940707 | COSM1085519 | R>W | B:1002 | (-26.05, -12.02, -35.12) |
| 7:129940708 | rs373007376 COSM1249002 |
R>Q | B:1002 | (-26.05, -12.02, -35.12) |
| 7:129940731 | G>R | B:1010 | (-21.91, -26.52, -38.68) | |
| 7:129944324 | H>Y | B:1020 | (-29.85, -20.82, -25.58) | |
| 7:129944327 | rs578138591 | E>K | B:1021 | (-29.51, -25.24, -28.59) |
| 7:129944328 | rs377647373 | E>A | B:1021 | (-29.51, -25.24, -28.59) |
| 7:129944330 | rs111918322 | M>L | B:1022 | (-28.19, -27.54, -23.74) |
| 7:129944334 | D>G | B:1023 | (-32.57, -24.42, -22.50) | |
| 7:129944345 | A>T | B:1027 | (-37.88, -26.58, -24.48) | |
| 7:129944363 | A>S | B:1033 | (-35.22, -33.19, -21.91) | |
| 7:129944364 | rs374039367 | A>V | B:1033 | (-35.22, -33.19, -21.91) |
| 7:129944375 | K>E | B:1037 | (-26.36, -26.82, -12.25) | |
| 7:129944377 | K>N | B:1037 | (-26.36, -26.82, -12.25) | |
| 7:129944388 | rs141042847 | S>L | B:1041 | (-16.21, -24.02, -12.87) |
| 7:129944399 | rs367921847 | R>W | B:1045 | (-17.85, -20.46, -16.24) |
| 7:129944400 | R>Q | B:1045 | (-17.85, -20.46, -16.24) | |
| 7:129944402 | rs3735051 | P>T | B:1046 | (-22.46, -23.23, -15.21) |
| 7:129944403 | P>L | B:1046 | (-22.46, -23.23, -15.21) | |
| 7:129944409 | Y>C | B:1048 | (-25.60, -26.16, -17.54) | |
| 7:129944411 | V>L | B:1049 | (-25.99, -32.17, -18.28) | |
| 7:129944418 | rs147925812 | K>R | B:1051 | (-31.67, -36.26, -17.66) |
| 7:129945670 | rs376557337 | K>N | B:1055 | (-39.17, -42.12, -16.63) |
| 7:129945670 | rs376557337 | K>N | B:1055 | (-42.46, -39.79, -16.63) |
| 7:129945674 | rs575286796 | V>M | B:1057 | (-37.36, -42.93, -12.36) |
| 7:129945675 | V>A | B:1057 | (-37.36, -42.93, -12.36) | |
| 7:129945680 | R>W | B:1059 | (-35.05, -45.57, -16.28) | |
| 7:129945681 | R>Q | B:1059 | (-35.05, -45.57, -16.28) | |
| 7:129945684 | rs368665966 | P>L | B:1060 | (-30.59, -47.75, -16.20) |
| 7:129945696 | L>P | B:1064 | (-22.51, -39.12, -23.33) | |
| 7:129945698 | rs370825723 | N>H | B:1065 | (-18.05, -36.90, -21.51) |
| 7:129945714 | S>F | B:1070 | (-10.41, -27.22, -24.60) | |
| 7:129945726 | I>N | B:1074 | (-14.88, -32.23, -32.98) | |
| 7:129945734 | A>T | B:1077 | (-19.72, -30.26, -31.75) | |
| 7:129945740 | rs377447196 | A>T | B:1079 | (-22.13, -33.25, -28.41) |
| 7:129945750 | T>M | B:1082 | (-25.74, -35.99, -30.23) | |
| 7:129946627 | I>V | B:1086 | (-31.22, -38.12, -28.92) | |
| 7:129946631 | V>A | B:1087 | (-34.66, -35.18, -29.58) | |
| 7:129946646 | R>M | B:1092 | (-38.51, -40.22, -36.62) | |
| 7:129946652 | P>L | B:1094 | (-36.25, -47.84, -33.77) | |
| 7:129946657 | rs375703596 | I>V | B:1096 | (-32.56, -44.05, -29.69) |
| 7:129946661 | T>I | B:1097 | (-36.77, -45.42, -29.12) | |
| 7:129946664 | rs370041508 | S>F | B:1098 | (-35.20, -49.00, -27.41) |
| 7:129946668 | I>M | B:1099 | (-31.76, -47.18, -25.94) | |
| 7:129946674 | E>D | B:1101 | (-38.19, -47.27, -23.93) | |
| 7:129946681 | COSM3922699 | D>Y | B:1104 | (-31.52, -42.53, -18.42) |
| 7:129946694 | L>W | B:1108 | (-20.98, -32.97, -20.26) | |
| 7:129946696 | P>S | B:1109 | (-21.52, -30.99, -23.91) | |
| 7:129946703 | A>V | B:1111 | (-16.33, -30.77, -19.42) | |
| 7:129946707 | N>K | B:1112 | (-13.00, -27.66, -19.71) | |
| 7:129946709 | P>R | B:1113 | (-16.05, -24.79, -19.17) | |
| 7:129946712 | rs200419185 | D>V | B:1114 | (-13.23, -22.32, -17.63) |
| 7:129946720 | rs566222506 | V>M | B:1117 | (-14.07, -19.47, -22.97) |
| 7:129946727 | T>S | B:1119 | (-10.03, -21.79, -26.55) | |
| 7:129948151 | R>Q | B:1124 | (-8.00, -23.24, -30.63) | |
| 7:129948166 | T>M | B:1129 | (-8.03, -26.65, -16.12) | |
| 7:129948168 | R>W | B:1130 | (-7.20, -21.36, -16.69) | |
| 7:129948169 | R>Q | B:1130 | (-7.20, -21.36, -16.69) | |
| 7:129948175 | R>Q | B:1132 | (-4.88, -19.98, -11.10) | |
| 7:129948206 | D>E | B:1142 | (-4.88, -33.16, -17.57) | |
| 7:129948207 | COSM1548244 | P>T | B:1143 | (-8.58, -32.91, -17.01) |
| 7:129948210 | N>D | B:1144 | (-8.08, -37.44, -18.68) | |
| 7:129948214 | rs138103526 | R>K | B:1145 | (-3.89, -37.47, -17.26) |
| 7:129948219 | W>G | B:1147 | (-11.37, -38.63, -13.68) | |
| 7:129948222 | N>Y | B:1148 | (-9.60, -41.97, -8.07) | |
| 7:129950632 | G>R | B:1155 | (1.57, -40.25, -17.74) | |
| 7:129950641 | D>N | B:1158 | (5.05, -33.75, -10.68) | |
| 7:129950647 | P>A | B:1160 | (2.56, -27.55, -12.14) | |
| 7:129950656 | rs141258597 | E>K | B:1163 | (-0.02, -29.50, -21.19) |
| 7:129950677 | rs570075096 COSM2770013 COSM744561 |
A>T | B:1170 | (-7.74, -36.69, -6.85) |
| 7:129950681 | rs201774085 | N>S | B:1171 | (-11.18, -35.88, -7.87) |
| 7:129950684 | COSM1202127 | S>L | B:1172 | (-8.58, -31.41, -7.78) |
| 7:129950689 | V>M | B:1174 | (-14.43, -28.69, -9.63) | |
| 7:129950690 | V>A | B:1174 | (-14.43, -28.69, -9.63) | |
| 7:129950704 | V>L | B:1179 | (-18.68, -36.09, -13.09) | |
| 7:129950710 | rs369386234 | D>N | B:1181 | (-19.90, -36.25, -6.93) |
| 7:129950723 | rs372886617 | K>T | B:1185 | (-25.92, -39.01, -6.52) |
| 7:129950726 | rs137989611 | H>R | B:1186 | (-27.55, -42.46, -10.68) |
| 7:129950740 | rs2171492 | G>C | B:1191 | (-22.09, -46.10, -19.10) |
| 7:129950749 | D>N | B:1194 | (-14.73, -39.43, -23.21) | |
| 7:129950759 | S>N | B:1197 | (-9.34, -34.93, -30.43) | |
| 7:129950765 | rs147134098 | S>L | B:1199 | (-6.38, -40.00, -34.08) |
| 7:129950777 | M>R | B:1203 | (-9.58, -46.34, -26.80) | |
| 7:129950779 | rs190845836 | Y>D | B:1204 | (-10.43, -51.33, -24.53) |
| 7:129950789 | rs375886402 | G>E | B:1207 | (-4.07, -47.07, -19.09) |
| 7:129950794 | S>T | B:1209 | (-1.45, -50.51, -16.46) | |
| 7:129950801 | K>I | B:1211 | (-3.53, -54.00, -15.31) | |
| 7:129950816 | A>V | B:1216 | (-11.27, -57.14, -22.83) | |
| 7:129950825 | rs375754048 | L>P | B:1219 | (-14.89, -53.98, -23.95) |
| 7:129951878 | rs147548483 | D>N | B:1220 | (-12.12, -55.56, -28.61) |
| 7:129951897 | A>V | B:1226 | (-18.53, -49.46, -33.59) | |
| 7:129951915 | S>F | B:1232 | (-20.77, -47.22, -42.79) | |
| 7:129951921 | rs372282809 | S>L | B:1234 | (-17.91, -41.87, -45.06) |
| 7:129951936 | Q>R | B:1239 | (-6.51, -47.73, -34.42) | |
| 7:129962331 | rs538281374 | P>T | B:1249 | (0.77, -45.51, -20.86) |
| 7:129962338 | S>N | B:1251 | (-2.85, -42.00, -15.05) | |
| 7:129962340 | rs142928875 | G>R | B:1252 | (-6.43, -40.63, -14.44) |
| 7:129962352 | D>N | B:1256 | (-9.36, -46.28, -16.31) | |
| 7:129962359 | A>V | B:1258 | (-15.34, -45.98, -14.70) | |
| 7:129962366 | rs143094036 | D>E | B:1260 | (-12.00, -49.19, -11.43) |
| 7:129962367 | N>H | B:1261 | (-16.05, -46.88, -9.96) | |
| 7:129962370 | G>S | B:1262 | (-18.69, -50.33, -12.28) | |
| 7:129962409 | G>R | B:1275 | (-3.45, -34.66, -38.95) | |
| 7:129962430 | P>T | B:1282 | (-12.53, -28.27, -40.70) | |
| 7:129962451 | T>A | B:1289 | (-17.62, -36.45, -37.38) | |
| 7:129962455 | rs369598784 | A>E | B:1290 | (-21.46, -36.71, -36.00) |
| 7:129962460 | rs375020217 | E>K | B:1292 | (-18.91, -40.98, -38.49) |
| 7:129962464 | rs201528535 COSM1202124 |
T>M | B:1293 | (-19.93, -40.75, -34.05) |
| 7:129962488 | rs138648309 | M>T | B:1301 | (-25.96, -46.89, -26.40) |
| 7:129962489 | M>I | B:1301 | (-25.96, -46.89, -26.40) | |
| 7:129962490 | COSM1699358 | E>K | B:1302 | (-28.00, -51.06, -29.30) |
| 7:129962494 | rs549833414 | H>R | B:1303 | (-23.76, -54.69, -25.85) |
| 7:129962499 | COSM3995351 | R>W | B:1305 | (-30.74, -52.28, -25.55) |
| 7:129962509 | rs148867006 | L>P | B:1308 | (-28.50, -54.46, -18.46) |
| 7:129962512 | rs376985428 | Y>S | B:1309 | (-24.73, -54.61, -14.75) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:129933080 | COSM280092 | K>N | B:6 | (-1.71, -14.80, -32.75) |
| 7:129939203 | COSM2769996 | S>P | B:70 | (21.32, -34.21, -35.38) |
| 7:129944388 | COSM3922698 | S>W | B:1041 | (-16.21, -24.02, -12.87) |
| 7:129945717 | COSM4674283 | R>Q | B:1071 | (-6.15, -28.46, -27.81) |
| 7:129946724 | COSM325053 | Y>C | B:1118 | (-7.81, -19.32, -22.26) |
| 7:129950719 | COSM70284 | Q>K | B:1184 | (-20.23, -41.91, -6.97) |
| 7:129950740 | COSM3762374 | G>C | B:1191 | (-22.09, -46.10, -19.10) |
| 7:129950821 | COSM3633254 | E>K | B:1218 | (-17.70, -57.76, -23.74) |
| 7:129962348 | COSM1622339 | S>R | B:1254 | (-12.28, -41.18, -17.40) |
| 7:129962490 | COSM1699358 | E>K | B:1302 | (-28.00, -51.06, -29.30) |
| 7:129962499 | COSM3995351 | R>W | B:1305 | (-30.74, -52.28, -25.55) |