General Structure Information
| PDB ID | 4gwm |
| HGNC Gene Label(s) | MEP1B |
| Structure Name | crystal structure of human promeprin beta |
| Resolution | 1.85Å |
| Reference | AUTH J.L.AROLAS,C.BRODER,T.JEFFERSON,T.GUEVARA,E.E.STERCHI,AUTH 2 W.BODE,W.STOCKER,C.BECKER-PAULY,F.X.GOMIS-RUTHTITL STRUCTURAL BASIS FOR THE SHEDDASE FUNCTION OF HUMAN MEPRINTITL 2 BETA METALLOPROTEINASE AT THE PLASMA MEMBRANEREF PROC.NATL.ACAD.SCI.USA V. 109 16131 2012REFN ISSN 0027-8424PMID 22988105DOI 10.1073/PNAS.1211076109 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 561 |
| Number Of SNVs | 141 |
| Number Of Permutations | 61885 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.061 |
| p-value | 0.522 |
COSMIC
| Number Of Residues | 561 |
| Number Of SNVs | 7 |
| Number Of Permutations | 4189 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.048 |
| p-value | 0.807 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 141 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | -0.106 |
| p-value | 0.68 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:29772617 | G>C | A:31 | (-59.21, 5.36, -53.98) | |
| 18:29772620 | COSM987719 | G>R | A:32 | (-61.14, 5.55, -51.25) |
| 18:29772634 | D>E | A:36 | (-52.21, -2.74, -45.43) | |
| 18:29772641 | rs567194983 | D>N | A:39 | (-55.52, -5.10, -48.33) |
| 18:29772648 | rs534588779 | N>S | A:41 | (-50.50, -8.30, -51.86) |
| 18:29772653 | rs373866785 | G>S | A:43 | (-55.98, -8.24, -54.88) |
| 18:29772769 | rs374352864 | R>G | A:54 | (-39.79, -14.61, -52.32) |
| 18:29772772 | L>F | A:55 | (-40.88, -18.74, -48.20) | |
| 18:29775371 | rs547303945 | A>V | A:58 | (-36.77, -25.25, -47.23) |
| 18:29775380 | R>K | A:61 | (-43.64, -21.72, -43.25) | |
| 18:29775394 | COSM385872 | G>R | A:66 | (-29.22, -17.09, -39.01) |
| 18:29775395 | rs191836009 | G>A | A:66 | (-29.22, -17.09, -39.01) |
| 18:29775412 | rs371763602 | P>S | A:72 | (-24.00, -6.57, -43.89) |
| 18:29775434 | L>R | A:79 | (-33.14, 2.02, -56.50) | |
| 18:29775436 | E>Q | A:80 | (-33.85, -1.46, -60.33) | |
| 18:29782886 | A>V | A:94 | (-36.44, 4.94, -45.32) | |
| 18:29782888 | rs139921933 | F>L | A:95 | (-32.65, 3.80, -47.06) |
| 18:29782894 | rs200205119 | R>C | A:97 | (-37.79, 6.90, -40.76) |
| 18:29782900 | rs373544871 | R>C | A:99 | (-29.13, 6.57, -42.87) |
| 18:29782925 | K>R | A:107 | (-23.54, 1.17, -50.36) | |
| 18:29782926 | rs201192031 | K>N | A:107 | (-23.54, 1.17, -50.36) |
| 18:29782951 | rs369778774 | I>V | A:116 | (-31.38, -5.34, -51.74) |
| 18:29782953 | rs71361372 | I>M | A:116 | (-31.38, -5.34, -51.74) |
| 18:29782954 | rs375638393 | S>P | A:117 | (-33.21, -5.43, -56.11) |
| 18:29782964 | K>M | A:120 | (-43.10, -1.66, -60.26) | |
| 18:29784158 | rs371173978 | V>I | A:128 | (-36.94, -13.53, -44.48) |
| 18:29784159 | V>A | A:128 | (-36.94, -13.53, -44.48) | |
| 18:29784168 | R>T | A:131 | (-31.91, -16.24, -47.95) | |
| 18:29784171 | rs117084287 | R>Q | A:132 | (-25.44, -15.22, -48.30) |
| 18:29784176 | G>R | A:134 | (-27.16, -11.98, -54.69) | |
| 18:29784194 | I>F | A:140 | (-41.83, -1.31, -53.68) | |
| 18:29784201 | A>V | A:142 | (-48.28, -0.31, -56.87) | |
| 18:29784233 | E>K | A:153 | (-41.08, -5.29, -46.93) | |
| 18:29784270 | S>L | A:165 | (-46.94, -15.46, -35.64) | |
| 18:29784273 | rs376833189 | R>H | A:166 | (-45.15, -14.06, -30.53) |
| 18:29784281 | rs531662397 | R>W | A:169 | (-51.61, -15.68, -31.93) |
| 18:29784282 | COSM3712652 | R>Q | A:169 | (-51.61, -15.68, -31.93) |
| 18:29784293 | rs150355961 | V>I | A:173 | (-54.69, -11.73, -30.02) |
| 18:29784296 | R>W | A:174 | (-60.90, -14.09, -30.00) | |
| 18:29784303 | M>T | A:176 | (-62.74, -13.57, -34.78) | |
| 18:29787220 | E>Q | A:185 | (-58.72, -19.36, -43.14) | |
| 18:29787245 | D>A | A:193 | (-40.11, -20.58, -32.04) | |
| 18:29787268 | rs535147794 | V>I | A:201 | (-39.58, -8.74, -26.36) |
| 18:29787271 | P>A | A:202 | (-42.83, -7.89, -24.75) | |
| 18:29787272 | P>L | A:202 | (-42.83, -7.89, -24.75) | |
| 18:29787302 | rs199832972 | S>N | A:212 | (-54.83, -5.10, -39.18) |
| 18:29787328 | E>K | A:221 | (-67.42, -7.26, -38.33) | |
| 18:29787331 | P>S | A:222 | (-63.00, -7.30, -36.38) | |
| 18:29787332 | rs191083715 | P>L | A:222 | (-63.00, -7.30, -36.38) |
| 18:29787338 | rs373648256 | I>T | A:224 | (-57.26, -9.42, -35.17) |
| 18:29787340 | V>I | A:225 | (-59.81, -8.86, -30.97) | |
| 18:29787359 | F>S | A:231 | (-53.29, -2.01, -27.38) | |
| 18:29787361 | E>K | A:232 | (-59.41, -2.94, -30.07) | |
| 18:29787373 | G>S | A:236 | (-51.41, -1.80, -37.77) | |
| 18:29787394 | D>N | A:243 | (-39.98, 1.52, -29.18) | |
| 18:29787403 | L>V | A:246 | (-35.88, 0.11, -33.00) | |
| 18:29787422 | L>P | A:252 | (-29.27, -8.30, -34.55) | |
| 18:29788085 | rs368013600 | S>Y | A:257 | (-24.71, 4.47, -32.68) |
| 18:29788088 | S>F | A:258 | (-26.64, 6.50, -35.27) | |
| 18:29788124 | E>G | A:270 | (-30.17, 16.75, -10.91) | |
| 18:29788130 | V>G | A:272 | (-28.70, 18.91, -17.57) | |
| 18:29788132 | C>R | A:273 | (-27.37, 16.27, -20.72) | |
| 18:29788140 | M>I | A:275 | (-26.15, 21.48, -20.89) | |
| 18:29788157 | rs199595382 | D>A | A:281 | (-24.99, 39.74, -16.76) |
| 18:29788174 | rs201959687 | R>W | A:287 | (-33.86, 21.14, -13.22) |
| 18:29788186 | rs569011465 | V>L | A:291 | (-42.81, 29.61, -14.00) |
| 18:29788198 | rs536193917 | P>S | A:295 | (-44.41, 27.48, -17.84) |
| 18:29788199 | P>L | A:295 | (-44.41, 27.48, -17.84) | |
| 18:29788209 | rs554435402 | D>E | A:298 | (-42.78, 20.07, -18.79) |
| 18:29790469 | G>C | A:309 | (-40.93, 17.85, -15.02) | |
| 18:29790475 | F>L | A:311 | (-38.80, 23.97, -17.54) | |
| 18:29790479 | M>T | A:312 | (-33.76, 25.07, -18.37) | |
| 18:29790487 | COSM987735 | D>N | A:315 | (-35.65, 35.42, -14.90) |
| 18:29790505 | V>L | A:321 | (-31.79, 45.83, -19.60) | |
| 18:29790506 | V>A | A:321 | (-31.79, 45.83, -19.60) | |
| 18:29790508 | G>R | A:322 | (-29.03, 43.05, -21.36) | |
| 18:29790509 | G>E | A:322 | (-29.03, 43.05, -21.36) | |
| 18:29790512 | A>D | A:323 | (-28.90, 40.55, -19.52) | |
| 18:29790515 | T>I | A:324 | (-26.87, 37.61, -20.97) | |
| 18:29790518 | A>V | A:325 | (-27.57, 33.66, -20.21) | |
| 18:29790520 | rs9959396 | V>M | A:326 | (-24.99, 31.00, -21.74) |
| 18:29790536 | rs374623506 | T>M | A:331 | (-18.38, 18.51, -27.07) |
| 18:29790539 | L>P | A:332 | (-21.46, 17.58, -29.95) | |
| 18:29790562 | C>R | A:340 | (-31.57, 19.76, -37.19) | |
| 18:29790580 | COSM563484 | Y>H | A:346 | (-43.93, 29.46, -22.45) |
| 18:29790581 | Y>C | A:346 | (-43.93, 29.46, -22.45) | |
| 18:29790585 | rs550099567 | N>K | A:347 | (-42.18, 34.24, -23.78) |
| 18:29790590 | G>D | A:349 | (-42.14, 37.82, -21.10) | |
| 18:29790619 | I>F | A:359 | (-22.19, 27.14, -33.18) | |
| 18:29790634 | A>T | A:364 | (-6.20, 23.09, -34.30) | |
| 18:29790641 | rs371119253 | N>S | A:366 | (-8.90, 28.32, -31.75) |
| 18:29793097 | W>S | A:385 | (-43.84, 25.21, -24.21) | |
| 18:29793098 | COSM987737 | W>C | A:385 | (-43.84, 25.21, -24.21) |
| 18:29793100 | rs113156575 | Q>R | A:386 | (-43.83, 28.17, -30.20) |
| 18:29793102 | L>I | A:387 | (-41.31, 23.69, -32.72) | |
| 18:29793112 | V>G | A:390 | (-31.96, 25.72, -36.26) | |
| 18:29793138 | R>G | A:399 | (-19.49, 23.18, -26.71) | |
| 18:29793147 | F>L | A:402 | (-29.11, 27.36, -26.31) | |
| 18:29793156 | rs200671563 | R>C | A:405 | (-30.98, 40.53, -24.61) |
| 18:29793157 | rs371904750 | R>H | A:405 | (-30.98, 40.53, -24.61) |
| 18:29793160 | K>R | A:406 | (-34.02, 41.78, -20.12) | |
| 18:29793165 | rs138989509 | S>T | A:408 | (-36.42, 46.87, -23.16) |
| 18:29793169 | G>D | A:409 | (-38.46, 46.70, -19.98) | |
| 18:29793181 | rs149917646 | G>D | A:413 | (-40.66, 36.33, -16.65) |
| 18:29793205 | N>S | A:421 | (-33.99, 17.10, -30.32) | |
| 18:29793211 | rs375895692 | S>L | A:423 | (-30.16, 15.63, -36.12) |
| 18:29793219 | rs372197706 | R>W | A:426 | (-30.76, 18.29, -44.90) |
| 18:29793222 | C>R | A:427 | (-34.43, 21.18, -41.67) | |
| 18:29793223 | rs375226060 | C>F | A:427 | (-34.43, 21.18, -41.67) |
| 18:29793225 | rs547923472 | P>S | A:428 | (-38.01, 21.14, -42.08) |
| 18:29793232 | H>L | A:430 | (-41.69, 25.09, -45.69) | |
| 18:29793234 | rs369048823 | I>V | A:431 | (-43.15, 24.32, -40.38) |
| 18:29793265 | I>T | A:441 | (-61.17, 16.11, -35.10) | |
| 18:29793283 | T>I | A:447 | (-61.96, 22.46, -44.29) | |
| 18:29793288 | rs144943422 | Y>H | A:449 | (-57.21, 25.06, -47.63) |
| 18:29793289 | Y>C | A:449 | (-57.21, 25.06, -47.63) | |
| 18:29793304 | Y>C | A:454 | (-42.93, 30.60, -52.79) | |
| 18:29793309 | S>T | A:456 | (-36.71, 24.84, -53.88) | |
| 18:29793312 | K>E | A:457 | (-36.41, 24.53, -57.86) | |
| 18:29793316 | G>A | A:458 | (-40.41, 28.31, -56.94) | |
| 18:29793318 | Y>H | A:459 | (-42.52, 25.35, -58.84) | |
| 18:29793338 | L>F | A:465 | (-55.89, 18.93, -43.45) | |
| 18:29793346 | rs141050716 | A>V | A:468 | (-64.72, 16.16, -42.07) |
| 18:29793366 | I>L | A:475 | (-53.08, 15.42, -46.85) | |
| 18:29793368 | I>M | A:475 | (-53.08, 15.42, -46.85) | |
| 18:29793394 | rs371428573 | N>S | A:484 | (-41.32, 32.60, -59.57) |
| 18:29793398 | D>E | A:485 | (-45.38, 31.12, -62.21) | |
| 18:29793413 | W>C | A:490 | (-45.38, 25.45, -65.20) | |
| 18:29793423 | W>G | A:494 | (-40.86, 13.97, -62.45) | |
| 18:29793439 | M>R | A:499 | (-46.88, 15.62, -46.68) | |
| 18:29793451 | rs370188648 | D>G | A:503 | (-44.91, 12.04, -32.70) |
| 18:29793457 | N>S | A:505 | (-41.83, 12.17, -28.30) | |
| 18:29793469 | R>Q | A:509 | (-33.86, 8.50, -29.67) | |
| 18:29793474 | R>C | A:511 | (-40.33, 12.29, -32.55) | |
| 18:29793478 | rs370313688 | M>K | A:512 | (-44.24, 6.68, -34.34) |
| 18:29793489 | R>W | A:516 | (-48.35, 9.38, -47.57) | |
| 18:29793490 | R>Q | A:516 | (-48.35, 9.38, -47.57) | |
| 18:29793499 | T>I | A:519 | (-44.26, 13.06, -57.31) | |
| 18:29793505 | rs555887797 | D>V | A:521 | (-46.32, 13.19, -63.70) |
| 18:29793522 | rs374350489 | D>N | A:527 | (-61.47, 14.00, -67.76) |
| 18:29795047 | N>D | A:528 | (-60.05, 18.44, -69.46) | |
| 18:29795080 | rs139204292 | V>M | A:539 | (-55.36, 24.44, -64.82) |
| 18:29795101 | rs233223 | S>P | A:546 | (-56.79, 35.26, -45.25) |
| 18:29795121 | R>S | A:552 | (-56.47, 30.80, -60.57) | |
| 18:29795131 | G>R | A:556 | (-55.22, 17.92, -55.74) | |
| 18:29795132 | G>A | A:556 | (-55.22, 17.92, -55.74) | |
| 18:29795137 | G>R | A:558 | (-53.38, 12.68, -52.45) | |
| 18:29795145 | S>R | A:560 | (-58.44, 9.89, -48.18) | |
| 18:29795149 | F>V | A:562 | (-52.12, 11.47, -43.66) | |
| 18:29795161 | E>K | A:566 | (-58.99, 6.85, -33.02) | |
| 18:29795177 | rs181589519 | R>K | A:571 | (-47.73, 8.20, -29.91) |
| 18:29795192 | rs369500469 | G>E | A:576 | (-51.59, 21.59, -26.72) |
| 18:29795194 | D>H | A:577 | (-54.90, 21.72, -29.12) | |
| 18:29795198 | D>A | A:578 | (-50.45, 22.45, -30.72) | |
| 18:29795200 | rs371507792 | V>I | A:579 | (-50.70, 20.12, -35.10) |
| 18:29795207 | I>N | A:581 | (-47.81, 19.49, -40.92) | |
| 18:29796956 | rs370498198 | I>V | A:588 | (-36.95, 13.66, -57.51) |
| 18:29796959 | rs558844934 | S>T | A:589 | (-34.93, 14.64, -61.71) |
| 18:29796975 | T>I | A:594 | (-29.60, 4.13, -64.63) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:29784273 | COSM2809803 | R>H | A:166 | (-45.15, -14.06, -30.53) |
| 18:29784282 | COSM3712652 | R>Q | A:169 | (-51.61, -15.68, -31.93) |
| 18:29787380 | COSM3403522 | R>Q | A:238 | (-48.57, -0.06, -40.90) |
| 18:29790487 | COSM987735 | D>N | A:315 | (-35.65, 35.42, -14.90) |
| 18:29793279 | COSM381445 | G>R | A:446 | (-62.29, 20.73, -41.28) |
| 18:29793396 | COSM3525306 | D>N | A:485 | (-45.38, 31.12, -62.21) |
| 18:29793440 | COSM4527878 | M>I | A:499 | (-46.88, 15.62, -46.68) |