General Structure Information
| PDB ID | 4a35 |
| HGNC Gene Label(s) | ENOSF1 |
| Structure Name | crystal structure of human mitochondrial enolase superfamily member 1 (enosf1) |
| Resolution | 1.74Å |
| Reference | AUTH J.R.C.MUNIZ,D.S.FROESE,T.KROJER,M.VOLLMAR,P.CANNING,AUTH 2 U.OPPERMANN,C.H.ARROWSMITH,A.M.EDWARDS,J.WEIGELT,C.BOUNTRA,AUTH 3 F.VON DELFT,W.W.YUETITL CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIAL ENOLASETITL 2 SUPERFAMILY MEMBER 1 (ENOSF1)REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 440 |
| Number Of SNVs | 152 |
| Number Of Permutations | 22609 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.252 |
| p-value | 0.659 |
COSMIC
| Number Of Residues | 440 |
| Number Of SNVs | 4 |
| Number Of Permutations | 414 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.5 |
| p-value | 0.399 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 152 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.273 |
| p-value | 0.683 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:712415 | rs531386054 | M>T | A:15 | (55.15, 23.52, -17.88) |
| 18:712397 | rs545779297 | M>T | A:21 | (49.74, 38.38, -5.95) |
| 18:712384 | D>E | A:25 | (51.29, 44.24, -1.32) | |
| 18:712382 | A>V | A:26 | (53.47, 46.82, -1.95) | |
| 18:712379 | rs541807775 | M>T | A:27 | (56.03, 44.91, -0.56) |
| 18:712361 | rs538048676 | M>T | A:32 | (61.64, 50.33, -15.21) |
| 18:706574 | rs140842890 | T>M | A:34 | (55.78, 50.02, -11.21) |
| 18:706570 | rs34724061 | D>E | A:35 | (53.17, 46.54, -11.72) |
| 18:706569 | P>S | A:36 | (55.64, 43.59, -9.82) | |
| 18:706559 | S>L | A:39 | (56.13, 34.83, -11.55) | |
| 18:706553 | rs527317712 | A>V | A:41 | (58.07, 28.70, -15.08) |
| 18:706550 | rs142476712 | Y>C | A:42 | (57.44, 24.21, -11.22) |
| 18:706545 | V>I | A:44 | (58.33, 18.73, -13.28) | |
| 18:706542 | I>V | A:45 | (61.78, 16.33, -15.11) | |
| 18:706536 | rs536458007 | T>A | A:47 | (62.53, 9.23, -14.47) |
| 18:706529 | COSM1389662 | A>G | A:49 | (63.49, 4.86, -12.10) |
| 18:706527 | E>K | A:50 | (60.17, 2.78, -10.69) | |
| 18:706493 | rs562303979 | T>S | A:61 | (58.45, 36.21, -14.50) |
| 18:706481 | G>D | A:65 | (54.72, 36.22, -20.08) | |
| 18:706478 | rs145245848 | T>I | A:66 | (54.73, 33.41, -17.70) |
| 18:697349 | COSM1494140 | C>Y | A:71 | (55.35, 28.09, -25.27) |
| 18:697332 | rs374563667 COSM989795 |
A>T | A:77 | (60.65, 19.20, -24.60) |
| 18:697328 | H>L | A:78 | (62.06, 18.05, -28.72) | |
| 18:697319 | L>P | A:81 | (61.12, 14.06, -23.67) | |
| 18:697316 | N>S | A:82 | (62.44, 10.01, -24.75) | |
| 18:697309 | D>E | A:84 | (69.21, 8.12, -21.15) | |
| 18:697299 | I>V | A:88 | (72.06, 14.73, -20.55) | |
| 18:697295 | rs201104611 | V>G | A:89 | (75.19, 14.28, -17.32) |
| 18:697288 | D>E | A:91 | (77.79, 15.84, -23.62) | |
| 18:697280 | G>D | A:94 | (75.73, 19.29, -26.04) | |
| 18:697277 | F>S | A:95 | (71.16, 18.98, -23.45) | |
| 18:697266 | L>V | A:99 | (68.53, 23.43, -25.55) | |
| 18:697262 | T>R | A:100 | (71.27, 27.13, -27.02) | |
| 18:697248 | rs371394055 | L>V | A:105 | (64.12, 27.31, -31.61) |
| 18:694334 | I>V | A:108 | (63.27, 32.83, -31.21) | |
| 18:694327 | P>L | A:110 | (70.30, 34.05, -30.30) | |
| 18:694316 | rs375897872 | V>M | A:114 | (61.55, 33.72, -24.10) |
| 18:694313 | V>L | A:115 | (64.56, 30.93, -25.79) | |
| 18:694309 | rs547995493 | H>P | A:116 | (68.53, 31.54, -22.58) |
| 18:694303 | rs150777254 | A>V | A:118 | (63.16, 28.29, -21.12) |
| 18:694294 | A>V | A:121 | (63.95, 25.95, -16.71) | |
| 18:694284 | N>K | A:124 | (67.34, 24.77, -13.53) | |
| 18:694282 | COSM438358 | A>V | A:125 | (65.41, 20.40, -13.81) |
| 18:694280 | rs138575804 | V>M | A:126 | (68.45, 18.46, -15.42) |
| 18:694273 | D>G | A:128 | (67.00, 19.12, -9.06) | |
| 18:694269 | L>F | A:129 | (67.16, 14.87, -11.56) | |
| 18:694270 | rs370291890 | L>S | A:129 | (67.16, 14.87, -11.56) |
| 18:694268 | rs144714633 | W>G | A:130 | (73.84, 15.43, -12.10) |
| 18:694264 | rs370363817 | A>G | A:131 | (71.62, 16.22, -7.41) |
| 18:694255 | rs555175383 | E>V | A:134 | (74.58, 11.88, -7.35) |
| 18:693907 | P>L | A:137 | (73.67, 19.57, -2.48) | |
| 18:693904 | V>A | A:138 | (73.93, 21.77, -6.70) | |
| 18:693905 | V>I | A:138 | (73.93, 21.77, -6.70) | |
| 18:693889 | V>A | A:143 | (82.63, 21.20, -4.67) | |
| 18:691273 | P>S | A:147 | (88.02, 19.61, -12.73) | |
| 18:691270 | R>G | A:148 | (89.75, 17.50, -17.26) | |
| 18:691266 | rs2612086 | M>T | A:149 | (82.72, 16.50, -15.45) |
| 18:691260 | V>A | A:151 | (85.01, 21.84, -18.17) | |
| 18:691252 | rs143796568 | I>V | A:154 | (81.06, 24.60, -19.75) |
| 18:691245 | F>Y | A:156 | (84.12, 27.16, -23.10) | |
| 18:691239 | Y>C | A:158 | (80.37, 32.82, -29.51) | |
| 18:691233 | T>I | A:160 | (87.77, 30.88, -26.50) | |
| 18:691230 | D>A | A:161 | (88.38, 35.34, -26.66) | |
| 18:691231 | rs377711094 COSM3796498 COSM3796497 |
D>H | A:161 | (88.38, 35.34, -26.66) |
| 18:691217 | E>D | A:165 | (88.41, 23.96, -22.45) | |
| 18:691216 | rs576654575 | E>Q | A:166 | (92.78, 24.79, -21.59) |
| 18:691213 | COSM3527408 COSM3527407 |
D>N | A:167 | (92.23, 29.23, -19.08) |
| 18:691097 | Q>R | A:173 | (93.70, 22.69, -11.29) | |
| 18:691092 | G>R | A:175 | (90.61, 25.71, -5.96) | |
| 18:691069 | R>S | A:182 | (87.59, 27.52, 0.83) | |
| 18:690628 | K>R | A:184 | (85.08, 23.01, 7.26) | |
| 18:690624 | Q>H | A:185 | (83.74, 29.41, 6.91) | |
| 18:690625 | Q>R | A:185 | (83.74, 29.41, 6.91) | |
| 18:690617 | rs538088633 | A>S | A:188 | (79.76, 27.60, 10.11) |
| 18:690613 | Q>R | A:189 | (79.60, 31.24, 10.08) | |
| 18:690607 | Y>C | A:191 | (78.16, 33.98, 0.68) | |
| 18:690601 | rs569757909 | A>G | A:193 | (73.98, 39.05, 2.94) |
| 18:690595 | T>M | A:195 | (68.45, 43.58, 2.68) | |
| 18:690589 | S>L | A:197 | (63.42, 44.50, 2.31) | |
| 18:690584 | rs181508570 | A>T | A:199 | (64.23, 49.28, -1.49) |
| 18:690574 | rs150240328 | G>V | A:202 | (56.00, 53.87, -1.89) |
| 18:690565 | rs142575233 | D>G | A:205 | (58.85, 58.71, 5.78) |
| 18:690563 | rs376114352 | D>N | A:206 | (56.48, 56.35, 9.23) |
| 18:690556 | rs565636412 | L>W | A:208 | (61.47, 53.29, 5.11) |
| 18:690550 | rs147691635 | Q>R | A:210 | (58.20, 50.79, 10.64) |
| 18:688607 | L>P | A:211 | (60.96, 48.15, 6.93) | |
| 18:688608 | L>F | A:211 | (60.96, 48.15, 6.93) | |
| 18:688599 | Q>E | A:214 | (62.52, 44.55, 12.16) | |
| 18:688595 | rs563225083 | A>V | A:215 | (66.48, 44.91, 9.81) |
| 18:688586 | rs374752244 | D>G | A:218 | (66.32, 41.01, 12.31) |
| 18:688578 | T>A | A:221 | (74.70, 45.26, 8.16) | |
| 18:688575 | R>G | A:222 | (75.56, 43.69, 4.60) | |
| 18:686000 | V>A | A:225 | (68.04, 51.76, -2.38) | |
| 18:685988 | rs139466480 | A>V | A:229 | (62.07, 58.06, -10.93) |
| 18:685976 | D>V | A:233 | (61.59, 59.78, -3.56) | |
| 18:685962 | C>R | A:238 | (68.58, 57.67, 0.86) | |
| 18:685957 | rs139825033 | Q>H | A:239 | (68.75, 61.14, 4.54) |
| 18:685954 | I>M | A:240 | (65.14, 57.74, 5.92) | |
| 18:685952 | I>S | A:241 | (68.09, 54.18, 4.68) | |
| 18:685949 | R>Q | A:242 | (73.52, 56.08, 5.31) | |
| 18:685944 | M>V | A:244 | (67.79, 54.23, 10.65) | |
| 18:685940 | I>N | A:245 | (72.14, 52.34, 8.41) | |
| 18:685934 | P>L | A:247 | (78.16, 55.75, 8.76) | |
| 18:685932 | E>K | A:248 | (78.86, 51.77, 10.07) | |
| 18:685929 | K>E | A:249 | (75.89, 50.07, 8.56) | |
| 18:685926 | T>A | A:250 | (76.64, 48.66, 3.24) | |
| 18:683380 | M>V | A:252 | (73.79, 48.72, -1.97) | |
| 18:683367 | rs372414785 | N>S | A:256 | (66.16, 48.99, -12.26) |
| 18:683362 | rs142662421 | R>C | A:258 | (64.34, 54.78, -15.54) |
| 18:683359 | rs369075215 | W>R | A:259 | (69.66, 56.57, -14.51) |
| 18:683343 | rs376721481 | A>V | A:264 | (73.67, 58.58, -14.74) |
| 18:683338 | E>K | A:266 | (73.98, 64.84, -13.00) | |
| 18:683332 | M>V | A:268 | (74.78, 58.92, -8.93) | |
| 18:683323 | L>V | A:271 | (72.46, 60.16, -4.92) | |
| 18:683313 | rs144642877 | F>Y | A:274 | (73.10, 59.66, 0.42) |
| 18:683307 | P>L | A:276 | (77.05, 54.85, -2.59) | |
| 18:683293 | rs201722712 | E>K | A:281 | (70.78, 47.83, -13.87) |
| 18:683289 | P>L | A:282 | (73.06, 52.41, -14.55) | |
| 18:683287 | rs146518307 | T>A | A:283 | (71.98, 51.83, -18.37) |
| 18:683283 | rs202027658 | S>C | A:284 | (70.97, 49.24, -20.89) |
| 18:683281 | P>T | A:285 | (71.05, 45.71, -20.04) | |
| 18:683268 | L>P | A:289 | (80.52, 50.88, -24.45) | |
| 18:683260 | rs376976768 | A>T | A:292 | (82.26, 52.09, -18.94) |
| 18:683257 | rs567655461 | T>A | A:293 | (81.19, 55.81, -19.72) |
| 18:683246 | rs372476837 | K>N | A:296 | (85.73, 55.38, -16.90) |
| 18:677870 | C>W | A:311 | (72.84, 39.85, -18.74) | |
| 18:677865 | rs182625199 | N>S | A:313 | (74.61, 36.05, -23.05) |
| 18:677859 | V>G | A:315 | (78.82, 37.37, -25.07) | |
| 18:677860 | rs543122758 | V>L | A:315 | (78.82, 37.37, -25.07) |
| 18:677835 | COSM4073082 COSM4073081 |
A>V | A:323 | (85.60, 47.11, -20.87) |
| 18:677833 | K>Q | A:324 | (88.15, 47.35, -17.35) | |
| 18:677813 | Q>H | A:330 | (75.06, 41.63, -10.47) | |
| 18:677811 | I>T | A:331 | (75.28, 35.91, -11.21) | |
| 18:677784 | N>S | A:340 | (75.70, 25.05, -17.67) | |
| 18:677781 | E>G | A:341 | (75.79, 30.57, -19.25) | |
| 18:677763 | L>P | A:347 | (85.32, 30.50, -14.53) | |
| 18:677760 | M>T | A:348 | (84.63, 34.90, -17.44) | |
| 18:677439 | V>I | A:356 | (80.41, 37.63, -8.07) | |
| 18:677429 | rs139944321 | H>R | A:359 | (69.50, 38.98, -8.86) |
| 18:677421 | G>R | A:362 | (61.61, 36.68, -6.25) | |
| 18:677418 | rs145955718 | V>I | A:363 | (60.11, 33.15, -7.60) |
| 18:677408 | rs555387034 | C>S | A:366 | (67.48, 33.00, -3.19) |
| 18:677383 | I>M | A:374 | (78.36, 28.41, -1.69) | |
| 18:677381 | rs200409562 | F>S | A:375 | (81.32, 26.30, -6.95) |
| 18:677378 | rs531031825 | D>G | A:376 | (82.66, 31.15, -6.28) |
| 18:677370 | S>T | A:379 | (85.93, 26.03, -6.03) | |
| 18:675388 | V>A | A:392 | (64.41, 39.28, -0.84) | |
| 18:675359 | P>S | A:402 | (63.49, 26.91, 2.46) | |
| 18:675349 | I>T | A:405 | (69.09, 33.41, 6.71) | |
| 18:675346 | Q>P | A:406 | (72.92, 32.01, 10.80) | |
| 18:675344 | rs200707696 | R>W | A:407 | (74.79, 35.36, 13.15) |
| 18:675341 | rs114884478 | A>T | A:408 | (73.00, 37.76, 7.40) |
| 18:675338 | S>P | A:409 | (74.16, 34.48, 6.40) | |
| 18:674399 | G>V | A:417 | (69.53, 19.61, -4.89) | |
| 18:674400 | G>S | A:417 | (69.53, 19.61, -4.89) | |
| 18:674351 | P>R | A:433 | (44.21, 30.99, -15.33) | |
| 18:674352 | P>A | A:433 | (44.21, 30.99, -15.33) | |
| 18:674340 | V>F | A:437 | (44.49, 33.20, -6.05) | |
| 18:674324 | L>R | A:442 | (40.97, 37.70, -12.55) | |
| 18:674321 | P>R | A:443 | (36.55, 36.92, -11.56) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:697332 | COSM989795 | A>T | A:77 | (60.65, 19.20, -24.60) |
| 18:685927 | COSM989766 | K>N | A:249 | (75.89, 50.07, 8.56) |
| 18:677802 | COSM3388489 | C>Y | A:334 | (66.95, 32.12, -14.12) |
| 18:677782 | COSM4170974 | E>K | A:341 | (75.79, 30.57, -19.25) |