General Structure Information
| PDB ID | 2g76 |
| HGNC Gene Label(s) | PHGDH |
| Structure Name | crystal structure of human 3-phosphoglycerate dehydrogenase |
| Resolution | 1.7Å |
| Reference | AUTH A.P.TURNBULL,E.SALAH,P.SAVITSKY,O.GILEADI,F.VON DELFT,AUTH 2 A.EDWARDS,C.ARROWSMITH,J.WEIGELT,M.SUNDSTROM,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN 3-PHOSPHOGLYCERATE DEHYDROGENASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 301 |
| Number Of SNVs | 89 |
| Number Of Permutations | 41556 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.019 |
| p-value | 0.366 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:120254664 | R>W | B:6 | (20.68, -22.33, 27.97) | |
| 1:120254670 | rs199784256 | V>L | B:8 | (15.98, -18.26, 25.56) |
| 1:120254679 | S>G | B:11 | (7.31, -13.78, 24.34) | |
| 1:120254683 | D>G | B:12 | (7.19, -10.42, 23.15) | |
| 1:120254710 | I>N | B:21 | (23.48, -11.72, 19.93) | |
| 1:120254724 | G>R | B:26 | (24.94, -20.91, 22.29) | |
| 1:120254732 | rs147049140 | Q>H | B:28 | (17.65, -23.50, 22.34) |
| 1:120254754 | S>G | B:36 | (-1.46, -18.12, 26.41) | |
| 1:120254764 | E>G | B:39 | (0.30, -21.07, 24.92) | |
| 1:120254765 | E>D | B:39 | (0.30, -21.07, 24.92) | |
| 1:120254767 | L>R | B:40 | (4.14, -18.55, 28.55) | |
| 1:120263811 | V>F | B:52 | (9.97, -9.63, 27.62) | |
| 1:120263814 | R>C | B:53 | (8.50, -4.48, 23.83) | |
| 1:120263815 | rs372842833 COSM675024 |
R>H | B:53 | (8.50, -4.48, 23.83) |
| 1:120263818 | S>C | B:54 | (5.42, -4.87, 27.20) | |
| 1:120263820 | A>T | B:55 | (2.96, -8.04, 26.25) | |
| 1:120263835 | rs140185619 | A>T | B:60 | (3.73, -15.00, 40.01) |
| 1:120263838 | COSM3472244 COSM3472245 |
D>N | B:61 | (0.95, -17.54, 38.86) |
| 1:120263880 | rs200509653 | A>S | B:75 | (13.28, -4.80, 25.94) |
| 1:120263881 | A>V | B:75 | (13.28, -4.80, 25.94) | |
| 1:120263892 | V>L | B:79 | (10.07, -3.87, 35.80) | |
| 1:120263896 | D>V | B:80 | (6.42, -1.98, 34.08) | |
| 1:120263899 | rs587625944 | N>S | B:81 | (6.17, -6.69, 32.16) |
| 1:120263913 | A>T | B:86 | (8.41, -12.98, 42.59) | |
| 1:120263916 | rs142988234 | A>T | B:87 | (11.60, -13.11, 41.04) |
| 1:120263940 | rs587672049 | M>L | B:95 | (18.15, -8.51, 32.89) |
| 1:120266004 | rs182600362 | P>R | B:98 | (18.64, 1.42, 30.39) |
| 1:120266027 | rs199809714 | A>T | B:106 | (13.06, 12.32, 22.93) |
| 1:120266054 | C>S | B:115 | (1.44, 18.40, 18.03) | |
| 1:120266061 | A>V | B:117 | (1.24, 23.97, 19.22) | |
| 1:120269481 | P>A | B:121 | (-3.24, 15.48, 15.26) | |
| 1:120269488 | A>V | B:123 | (-6.11, 18.70, 11.53) | |
| 1:120269491 | T>M | B:124 | (-5.31, 15.21, 9.99) | |
| 1:120269497 | S>L | B:126 | (-10.64, 17.79, 9.98) | |
| 1:120269499 | M>L | B:127 | (-8.55, 17.71, 6.24) | |
| 1:120269512 | K>I | B:131 | (-13.84, 19.28, 8.41) | |
| 1:120269517 | rs139129607 | E>K | B:133 | (-11.65, 23.42, 10.72) |
| 1:120269521 | COSM894684 | R>Q | B:134 | (-7.61, 28.77, 7.96) |
| 1:120269527 | K>R | B:136 | (-10.96, 24.48, 15.42) | |
| 1:120269637 | rs200037593 | T>I | B:140 | (1.11, 28.47, 19.55) |
| 1:120269642 | rs143155925 | L>M | B:142 | (7.38, 26.83, 20.27) |
| 1:120269660 | G>R | B:148 | (9.36, 22.16, 31.55) | |
| 1:120269691 | E>G | B:158 | (18.77, 14.64, 24.58) | |
| 1:120269693 | V>I | B:159 | (14.00, 17.22, 25.21) | |
| 1:120269700 | T>S | B:161 | (19.11, 20.21, 23.30) | |
| 1:120269702 | R>W | B:162 | (16.83, 17.70, 20.53) | |
| 1:120269703 | COSM894685 rs587777483 |
R>Q | B:162 | (16.83, 17.70, 20.53) |
| 1:120269715 | F>S | B:166 | (12.32, 24.74, 17.92) | |
| 1:120269720 | M>L | B:168 | (11.69, 26.67, 23.93) | |
| 1:120269724 | K>R | B:169 | (13.35, 29.33, 29.09) | |
| 1:120277258 | T>S | B:170 | (14.98, 25.12, 29.01) | |
| 1:120277260 | I>V | B:171 | (12.89, 25.56, 33.18) | |
| 1:120277261 | I>T | B:171 | (12.89, 25.56, 33.18) | |
| 1:120277281 | rs148390302 | S>A | B:178 | (23.88, 19.35, 39.26) |
| 1:120277294 | rs376632509 COSM894688 |
S>L | B:182 | (21.87, 21.49, 34.04) |
| 1:120277306 | G>D | B:186 | (20.50, 24.66, 29.33) | |
| 1:120277312 | Q>P | B:188 | (17.34, 27.73, 35.20) | |
| 1:120277318 | rs369944394 | L>Q | B:190 | (14.08, 26.50, 39.44) |
| 1:120277320 | P>S | B:191 | (12.38, 25.40, 42.86) | |
| 1:120277359 | V>M | B:204 | (7.31, 14.23, 32.50) | |
| 1:120277365 | rs146721224 | T>S | B:206 | (10.34, 10.74, 35.90) |
| 1:120277377 | P>T | B:210 | (6.09, 6.97, 45.25) | |
| 1:120277378 | P>L | B:210 | (6.09, 6.97, 45.25) | |
| 1:120277384 | T>M | B:212 | (6.79, 10.64, 40.71) | |
| 1:120277928 | rs587691658 | N>K | B:217 | (-1.59, 17.26, 41.20) |
| 1:120277933 | N>I | B:219 | (-1.54, 21.47, 44.16) | |
| 1:120277941 | A>S | B:222 | (-3.24, 25.59, 40.47) | |
| 1:120277951 | K>R | B:225 | (0.82, 29.96, 32.64) | |
| 1:120277963 | COSM1333243 | R>H | B:229 | (-0.25, 23.85, 25.83) |
| 1:120277965 | rs587709758 | V>M | B:230 | (0.96, 18.71, 29.42) |
| 1:120277980 | rs147066269 | R>C | B:235 | (6.21, 4.98, 32.58) |
| 1:120277981 | R>H | B:235 | (6.21, 4.98, 32.58) | |
| 1:120277989 | I>L | B:238 | (3.97, 10.93, 36.45) | |
| 1:120277992 | V>M | B:239 | (0.17, 13.17, 34.96) | |
| 1:120277995 | D>N | B:240 | (-3.57, 12.65, 38.18) | |
| 1:120278004 | A>T | B:243 | (-6.33, 16.26, 37.23) | |
| 1:120278013 | COSM1220391 COSM4021276 |
R>W | B:246 | (-10.25, 17.50, 37.51) |
| 1:120278014 | R>Q | B:246 | (-10.25, 17.50, 37.51) | |
| 1:120278016 | rs374248197 | A>T | B:247 | (-7.64, 20.97, 33.58) |
| 1:120278017 | rs201782441 | A>V | B:247 | (-7.64, 20.97, 33.58) |
| 1:120278040 | G>R | B:255 | (-3.28, 20.42, 26.49) | |
| 1:120278049 | rs139830902 | L>V | B:258 | (-0.98, 11.19, 26.89) |
| 1:120278062 | T>M | B:262 | (-2.59, 4.12, 34.73) | |
| 1:120279741 | P>L | B:265 | (-4.99, -0.94, 27.22) | |
| 1:120279746 | rs142622658 | R>W | B:267 | (-11.27, -0.85, 30.73) |
| 1:120279750 | D>V | B:268 | (-11.08, 5.81, 31.50) | |
| 1:120279752 | R>W | B:269 | (-10.90, 5.51, 26.32) | |
| 1:120279753 | rs375031910 | R>Q | B:269 | (-10.90, 5.51, 26.32) |
| 1:120279766 | rs370045696 | D>E | B:273 | (-12.30, 10.49, 23.92) |
| 1:120279767 | rs150995624 | H>N | B:274 | (-10.64, 16.27, 25.52) |
| 1:120279795 | L>P | B:283 | (4.66, 4.52, 20.14) | |
| 1:120279825 | rs147049991 | R>H | B:293 | (19.54, 1.14, 20.09) |
| 1:120279831 | G>E | B:295 | (18.13, -6.30, 21.73) | |
| 1:120279838 | E>D | B:297 | (20.96, -3.33, 25.97) | |
| 1:120279840 | I>T | B:298 | (18.76, -7.97, 26.70) | |
| 1:120279842 | A>S | B:299 | (21.54, -10.21, 24.45) | |
| 1:120279845 | V>L | B:300 | (24.99, -8.66, 25.49) | |
| 1:120279854 | rs149175408 | V>M | B:303 | (26.16, -13.69, 26.32) |
| 1:120279858 | D>A | B:304 | (28.15, -11.14, 29.19) |