General Structure Information
| PDB ID | 4ap6 |
| HGNC Gene Label(s) | POFUT2 |
| Structure Name | crystal structure of human pofut2 e54a mutant in complex with gdp- fucose |
| Resolution | 3.401Å |
| Reference | AUTH C.I.CHEN,J.J.KEUSCH,D.KLEIN,D.HESS,J.HOFSTEENGE,H.GUTTITL STRUCTURE OF HUMAN POFUT2: INSIGHTS INTO THROMBOSPONDINTITL 2 TYPE 1 REPEAT FOLD AND O-FUCOSYLATION.REF EMBO J. V. 31 3183 2012REFN ISSN 0261-4189PMID 22588082DOI 10.1038/EMBOJ.2012.143 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 389 |
| Number Of SNVs | 107 |
| Number Of Permutations | 50276 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.175 |
| p-value | 0.031 |
COSMIC
| Number Of Residues | 389 |
| Number Of SNVs | 6 |
| Number Of Permutations | 3395 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.467 |
| p-value | 0.431 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 107 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.216 |
| p-value | 1.0 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 21:46705827 | rs145387445 | V>I | A:50 | (17.62, 2.70, 19.30) |
| 21:46705823 | N>S | A:51 | (15.25, 0.61, 22.75) | |
| 21:46705802 | L>P | A:58 | (16.02, -3.39, 14.36) | |
| 21:46705800 | rs538791199 COSM4102074 COSM4102073 |
R>C | A:59 | (20.10, -0.92, 16.32) |
| 21:46705787 | Y>C | A:63 | (20.34, 4.13, 7.99) | |
| 21:46705783 | rs370258520 | I>M | A:64 | (16.18, 2.74, 6.11) |
| 21:46705781 | R>Q | A:65 | (12.74, 3.43, 10.23) | |
| 21:46705778 | I>T | A:66 | (16.36, 8.17, 10.03) | |
| 21:46705775 | A>V | A:67 | (16.87, 8.35, 5.77) | |
| 21:46705776 | A>T | A:67 | (16.87, 8.35, 5.77) | |
| 21:46705763 | K>R | A:71 | (15.95, 11.45, 1.78) | |
| 21:46705750 | K>N | A:75 | (13.22, 17.93, 0.03) | |
| 21:46705748 | rs145949373 | T>M | A:76 | (14.40, 22.62, 2.90) |
| 21:46705749 | rs375161420 | T>A | A:76 | (14.40, 22.62, 2.90) |
| 21:46705742 | E>G | A:78 | (22.57, 21.79, 4.01) | |
| 21:46705740 | W>R | A:79 | (19.59, 18.75, 8.23) | |
| 21:46705719 | rs201144923 | W>R | A:86 | (26.72, -0.09, 14.88) |
| 21:46705677 | V>F | A:100 | (32.40, 0.09, 22.36) | |
| 21:46705673 | R>Q | A:101 | (33.32, 3.60, 21.82) | |
| 21:46705674 | R>W | A:101 | (33.32, 3.60, 21.82) | |
| 21:46705646 | L>H | A:110 | (30.97, 5.00, 4.48) | |
| 21:46705647 | L>F | A:110 | (30.97, 5.00, 4.48) | |
| 21:46705629 | N>D | A:116 | (21.30, 7.59, -0.26) | |
| 21:46705619 | V>A | A:119 | (26.85, 10.23, 5.80) | |
| 21:46705620 | rs146215070 | V>I | A:119 | (26.85, 10.23, 5.80) |
| 21:46705617 | rs141703334 | I>V | A:120 | (29.01, 12.11, 9.13) |
| 21:46705610 | Y>S | A:122 | (29.72, 10.94, 17.16) | |
| 21:46705603 | Q>H | A:124 | (33.63, 13.75, 11.01) | |
| 21:46705600 | F>L | A:125 | (29.34, 15.72, 15.27) | |
| 21:46703436 | rs184052047 | G>D | A:130 | (33.50, 21.42, 18.55) |
| 21:46703431 | P>T | A:132 | (31.16, 16.44, 22.36) | |
| 21:46703416 | V>L | A:137 | (17.71, 15.49, 22.91) | |
| 21:46703410 | rs73910608 | V>I | A:139 | (12.73, 11.27, 23.84) |
| 21:46703395 | rs149544156 | A>T | A:144 | (-0.59, 9.29, 26.48) |
| 21:46703388 | G>E | A:146 | (-3.54, 7.06, 22.91) | |
| 21:46703389 | G>R | A:146 | (-3.54, 7.06, 22.91) | |
| 21:46703384 | W>C | A:147 | (-4.30, 4.05, 19.27) | |
| 21:46703380 | rs138140406 | E>Q | A:149 | (-10.07, 2.56, 16.73) |
| 21:46703374 | T>A | A:151 | (-7.89, 7.89, 16.77) | |
| 21:46703367 | E>A | A:153 | (-4.16, 11.12, 14.16) | |
| 21:46703353 | rs201092483 | E>K | A:158 | (6.52, 19.19, 23.09) |
| 21:46703349 | R>Q | A:159 | (2.63, 15.58, 24.70) | |
| 21:46703350 | COSM4102070 COSM4102069 |
R>W | A:159 | (2.63, 15.58, 24.70) |
| 21:46703346 | COSM1162023 COSM1162022 |
P>L | A:160 | (4.64, 15.28, 28.78) |
| 21:46703338 | D>H | A:163 | (8.74, 6.81, 30.41) | |
| 21:46703335 | rs147048110 | Q>K | A:164 | (12.18, 8.44, 34.72) |
| 21:46703307 | rs141547596 | E>G | A:173 | (22.98, 23.36, 33.62) |
| 21:46703308 | E>K | A:173 | (22.98, 23.36, 33.62) | |
| 21:46702368 | W>C | A:178 | (25.09, 4.74, 25.94) | |
| 21:46702355 | E>K | A:183 | (32.04, 8.38, 28.79) | |
| 21:46702350 | rs374813043 | E>D | A:184 | (33.17, 13.29, 27.71) |
| 21:46702339 | rs371609585 | L>P | A:188 | (22.53, 21.83, 25.40) |
| 21:46702334 | COSM725833 COSM1149396 |
V>I | A:190 | (16.06, 17.00, 27.06) |
| 21:46702328 | C>S | A:192 | (9.61, 14.38, 25.25) | |
| 21:46702319 | rs139098095 | V>I | A:195 | (5.23, 10.02, 17.66) |
| 21:46702298 | rs372065830 | V>M | A:202 | (9.60, 14.91, 12.41) |
| 21:46702278 | R>S | A:208 | (8.87, 24.98, 9.89) | |
| 21:46702273 | T>I | A:210 | (14.20, 23.95, 16.01) | |
| 21:46702270 | S>L | A:211 | (17.32, 26.56, 16.21) | |
| 21:46702264 | rs146577086 | R>Q | A:213 | (23.22, 24.15, 13.32) |
| 21:46702265 | COSM125477 | R>G | A:213 | (23.22, 24.15, 13.32) |
| 21:46698080 | V>M | A:215 | (18.81, 17.20, 16.49) | |
| 21:46698068 | R>G | A:219 | (13.01, 4.99, 22.41) | |
| 21:46698047 | rs560306914 COSM1031421 |
D>N | A:226 | (8.06, 7.24, 5.02) |
| 21:46698044 | H>D | A:227 | (6.06, 3.64, 0.76) | |
| 21:46698040 | rs141027105 | Y>C | A:228 | (9.31, -1.52, 3.34) |
| 21:46697053 | R>H | A:237 | (19.10, -2.57, 1.92) | |
| 21:46697054 | R>C | A:237 | (19.10, -2.57, 1.92) | |
| 21:46697036 | rs200694749 | A>T | A:243 | (32.45, -4.08, 4.19) |
| 21:46697024 | R>W | A:247 | (31.96, -7.77, 0.47) | |
| 21:46697009 | rs140066982 | E>K | A:252 | (37.86, -16.95, 0.96) |
| 21:46696998 | S>R | A:255 | (35.54, -20.69, -2.86) | |
| 21:46696981 | T>M | A:261 | (32.00, -18.22, -7.50) | |
| 21:46696976 | rs200338670 | D>N | A:263 | (31.36, -15.85, -12.17) |
| 21:46696973 | A>T | A:264 | (29.23, -19.83, -10.89) | |
| 21:46696949 | D>N | A:272 | (28.15, 1.69, -8.20) | |
| 21:46689918 | rs374934503 | A>V | A:283 | (20.38, -15.20, -10.13) |
| 21:46689919 | rs143959435 | A>T | A:283 | (20.38, -15.20, -10.13) |
| 21:46689913 | COSM579412 COSM326200 COSM1414482 COSM1414481 COSM1142952 |
G>R | A:285 | (23.74, -19.67, -7.18) |
| 21:46689869 | rs376287969 | I>M | A:299 | (14.28, -20.36, 27.10) |
| 21:46689871 | rs146202732 | I>F | A:299 | (14.28, -20.36, 27.10) |
| 21:46689865 | G>S | A:301 | (8.18, -22.24, 26.49) | |
| 21:46689860 | H>Q | A:302 | (4.64, -21.85, 24.40) | |
| 21:46689856 | Q>E | A:304 | (3.61, -22.35, 18.31) | |
| 21:46689849 | V>A | A:306 | (10.17, -22.74, 16.35) | |
| 21:46689828 | V>G | A:313 | (17.03, -32.04, 9.84) | |
| 21:46689829 | rs187147611 | V>M | A:313 | (17.03, -32.04, 9.84) |
| 21:46689825 | rs551859239 | R>M | A:314 | (12.39, -34.56, 9.15) |
| 21:46689817 | COSM3371841 COSM3371840 |
R>C | A:317 | (18.61, -34.33, 4.41) |
| 21:46689813 | rs139558758 | S>T | A:318 | (13.50, -32.06, 1.58) |
| 21:46689811 | L>F | A:319 | (15.05, -28.45, 0.65) | |
| 21:46689795 | rs143763248 | R>Q | A:324 | (19.39, -32.73, -7.86) |
| 21:46689796 | rs201399621 COSM2821667 COSM2821666 |
R>W | A:324 | (19.39, -32.73, -7.86) |
| 21:46689785 | K>N | A:327 | (27.32, -28.52, -0.31) | |
| 21:46689787 | K>E | A:327 | (27.32, -28.52, -0.31) | |
| 21:46689784 | V>L | A:328 | (24.29, -27.28, 4.17) | |
| 21:46689765 | A>G | A:334 | (23.12, -21.98, 18.76) | |
| 21:46689763 | rs141785110 | V>I | A:335 | (23.39, -23.43, 22.18) |
| 21:46687623 | E>K | A:340 | (27.63, -30.52, 19.31) | |
| 21:46687614 | K>E | A:343 | (27.66, -31.52, 12.94) | |
| 21:46687610 | rs377104397 | K>M | A:344 | (24.81, -36.08, 16.06) |
| 21:46687599 | rs368332928 | E>K | A:348 | (25.94, -32.85, 5.63) |
| 21:46687595 | rs147433641 | M>T | A:349 | (26.77, -28.81, 8.74) |
| 21:46687577 | T>M | A:355 | (38.71, -17.05, 15.30) | |
| 21:46687548 | G>R | A:365 | (28.17, -7.98, 12.93) | |
| 21:46687541 | rs556283266 | V>A | A:367 | (30.16, -12.67, 12.18) |
| 21:46687542 | rs116713802 | V>I | A:367 | (30.16, -12.67, 12.18) |
| 21:46687538 | A>V | A:368 | (26.56, -11.44, 11.14) | |
| 21:46687539 | A>S | A:368 | (26.56, -11.44, 11.14) | |
| 21:46687532 | I>T | A:370 | (30.14, -13.07, 7.18) | |
| 21:46687530 | D>N | A:371 | (26.76, -15.84, 8.67) | |
| 21:46687514 | A>V | A:376 | (22.48, -14.70, -0.07) | |
| 21:46687515 | COSM1534919 COSM1534918 |
A>T | A:376 | (22.48, -14.70, -0.07) |
| 21:46685549 | F>L | A:380 | (16.39, -22.56, -1.66) | |
| 21:46685534 | S>A | A:385 | (9.84, -16.99, 12.05) | |
| 21:46685512 | R>Q | A:392 | (17.31, -7.41, 6.93) | |
| 21:46685507 | rs146674072 | H>N | A:394 | (14.40, -12.34, 3.01) |
| 21:46685498 | R>G | A:397 | (18.45, -14.21, -1.87) | |
| 21:46685470 | rs149288381 | T>M | A:406 | (14.86, -19.10, -3.61) |
| 21:46685467 | rs144948414 | T>M | A:407 | (14.12, -15.85, -0.91) |
| 21:46685450 | G>R | A:413 | (6.22, -25.91, 13.27) | |
| 21:46685440 | E>G | A:416 | (2.82, -23.95, 12.72) | |
| 21:46685434 | A>V | A:418 | (-0.92, -21.65, 10.10) | |
| 21:46685435 | A>T | A:418 | (-0.92, -21.65, 10.10) | |
| 21:46685426 | Q>E | A:421 | (5.93, -18.52, 4.23) | |
| 21:46685404 | T>I | A:428 | (11.36, -0.17, -6.95) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 21:46705748 | COSM1414485 | T>M | A:76 | (14.40, 22.62, 2.90) |
| 21:46703395 | COSM379278 | A>T | A:144 | (-0.59, 9.29, 26.48) |
| 21:46703346 | COSM1162023 | P>L | A:160 | (4.64, 15.28, 28.78) |
| 21:46702334 | COSM725833 | V>I | A:190 | (16.06, 17.00, 27.06) |
| 21:46702294 | COSM1031422 | A>V | A:203 | (10.48, 17.50, 9.44) |
| 21:46696960 | COSM4509320 | P>L | A:268 | (26.42, -10.17, -12.10) |
| 21:46689913 | COSM1142952 | G>W | A:285 | (23.74, -19.67, -7.18) |
| 21:46687509 | COSM1682053 | A>T | A:378 | (22.36, -19.56, -1.98) |