General Structure Information
| PDB ID | 1dgb |
| HGNC Gene Label(s) | CAT |
| Structure Name | human erythrocyte catalase |
| Resolution | 2.2Å |
| Reference | AUTH C.D.PUTNAM,A.S.ARVAI,Y.BOURNE,J.A.TAINERTITL ACTIVE AND INHIBITED HUMAN CATALASE STRUCTURES:TITL 2 LIGAND AND NADPH BINDING AND CATALYTIC MECHANISM.REF J.MOL.BIOL. V. 296 295 2000REFN ISSN 0022-2836PMID 10656833DOI 10.1006/JMBI.1999.3458 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 497 |
| Number Of SNVs | 138 |
| Number Of Permutations | 45280 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.051 |
| p-value | 0.458 |
COSMIC
| Number Of Residues | 497 |
| Number Of SNVs | 3 |
| Number Of Permutations | 256 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.333 |
| p-value | 0.565 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 138 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.503 |
| p-value | 0.469 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:34460602 | H>Q | D:14 | (3.95, 51.29, 19.71) | |
| 11:34460619 | A>D | D:20 | (2.85, 60.04, 26.60) | |
| 11:34470748 | V>I | D:26 | (11.64, 56.56, 40.42) | |
| 11:34470764 | rs563283646 | A>G | D:31 | (15.21, 47.47, 47.49) |
| 11:34470769 | rs376026582 | N>D | D:33 | (16.42, 51.89, 47.59) |
| 11:34470778 | G>R | D:36 | (20.75, 59.33, 42.17) | |
| 11:34470785 | K>T | D:38 | (22.48, 54.11, 36.93) | |
| 11:34470811 | COSM3809148 | R>C | D:47 | (41.99, 60.90, 37.01) |
| 11:34470812 | rs148918137 | R>H | D:47 | (41.99, 60.90, 37.01) |
| 11:34470827 | V>A | D:52 | (32.19, 48.59, 48.36) | |
| 11:34470842 | F>S | D:57 | (28.07, 48.60, 40.38) | |
| 11:34470845 | rs371497151 | T>S | D:58 | (26.88, 45.72, 43.29) |
| 11:34470860 | H>R | D:63 | (20.09, 40.69, 38.32) | |
| 11:34470861 | COSM926628 | H>Q | D:63 | (20.09, 40.69, 38.32) |
| 11:34470865 | D>H | D:65 | (26.51, 38.93, 36.72) | |
| 11:34470869 | R>Q | D:66 | (23.62, 36.37, 39.06) | |
| 11:34470871 | E>Q | D:67 | (20.46, 38.40, 33.04) | |
| 11:34470873 | E>D | D:67 | (20.46, 38.40, 33.04) | |
| 11:34470875 | R>K | D:68 | (21.65, 35.05, 30.67) | |
| 11:34470888 | R>S | D:72 | (14.10, 25.31, 26.45) | |
| 11:34470899 | rs376152721 | A>V | D:76 | (16.05, 26.40, 22.38) |
| 11:34472555 | V>I | D:87 | (-15.45, 23.28, 22.19) | |
| 11:34472556 | COSM4032529 | V>A | D:87 | (-15.45, 23.28, 22.19) |
| 11:34472567 | I>V | D:91 | (-15.66, 14.41, 22.33) | |
| 11:34472576 | Y>H | D:94 | (-15.07, 9.22, 22.22) | |
| 11:34472579 | S>P | D:95 | (-13.53, 12.56, 27.29) | |
| 11:34472583 | K>T | D:96 | (-14.21, 12.60, 32.19) | |
| 11:34472607 | G>A | D:104 | (-18.11, 26.81, 23.65) | |
| 11:34472612 | K>E | D:106 | (-13.77, 29.90, 25.15) | |
| 11:34472619 | rs146568839 | P>L | D:108 | (-7.15, 29.46, 28.67) |
| 11:34472624 | A>T | D:110 | (-0.03, 28.40, 25.86) | |
| 11:34472630 | rs200680665 | R>W | D:112 | (8.12, 27.40, 22.78) |
| 11:34472631 | COSM3764299 | R>Q | D:112 | (8.12, 27.40, 22.78) |
| 11:34473645 | D>V | D:124 | (14.01, 30.32, 12.96) | |
| 11:34473653 | R>W | D:127 | (15.71, 20.57, 6.73) | |
| 11:34473654 | COSM186123 | R>Q | D:127 | (15.71, 20.57, 6.73) |
| 11:34473659 | P>S | D:129 | (11.81, 19.26, 13.66) | |
| 11:34473663 | rs368992856 | R>H | D:130 | (9.95, 23.22, 13.19) |
| 11:34473672 | A>G | D:133 | (3.41, 23.50, 22.67) | |
| 11:34473702 | rs549239410 | W>L | D:143 | (-4.12, 19.05, 27.97) |
| 11:34473710 | V>I | D:146 | (4.08, 18.43, 24.11) | |
| 11:34473723 | T>I | D:150 | (5.47, 15.34, 13.12) | |
| 11:34473743 | D>Y | D:157 | (13.08, 3.41, 23.16) | |
| 11:34473747 | P>R | D:158 | (13.02, 6.21, 25.35) | |
| 11:34474644 | rs370619632 | S>C | D:163 | (21.85, 9.18, 21.68) |
| 11:34474653 | H>L | D:166 | (24.14, 13.59, 22.08) | |
| 11:34474677 | T>I | D:174 | (34.99, 19.97, 17.12) | |
| 11:34474682 | rs148174786 | L>M | D:176 | (31.74, 21.30, 14.55) |
| 11:34474688 | rs529144536 | D>H | D:178 | (29.43, 15.21, 12.64) |
| 11:34474692 | rs373304220 COSM926629 |
P>L | D:179 | (27.72, 14.66, 9.15) |
| 11:34474718 | L>V | D:188 | (23.16, 1.98, 12.80) | |
| 11:34474719 | L>R | D:188 | (23.16, 1.98, 12.80) | |
| 11:34474721 | rs78209054 | R>C | D:189 | (18.51, 2.28, 15.32) |
| 11:34474722 | R>H | D:189 | (18.51, 2.28, 15.32) | |
| 11:34474725 | rs138096963 | P>L | D:190 | (16.45, 1.75, 10.59) |
| 11:34475363 | S>G | D:201 | (10.30, 17.01, 3.01) | |
| 11:34475370 | rs201484998 | R>Q | D:203 | (5.39, 19.41, 5.34) |
| 11:34475377 | I>M | D:205 | (11.88, 24.31, 5.94) | |
| 11:34475390 | rs371809582 | R>C | D:210 | (1.27, 31.90, 10.54) |
| 11:34475400 | rs533575957 COSM356698 |
N>S | D:213 | (0.17, 20.78, 10.76) |
| 11:34475402 | G>R | D:214 | (-0.12, 19.55, 14.71) | |
| 11:34475453 | Y>D | D:231 | (-5.99, 3.47, 23.13) | |
| 11:34475456 | C>R | D:232 | (-6.16, 8.96, 20.86) | |
| 11:34475471 | K>Q | D:237 | (-4.82, 20.24, 10.64) | |
| 11:34477562 | D>G | D:239 | (-6.83, 27.33, 9.70) | |
| 11:34477567 | rs369699361 | G>S | D:241 | (-1.80, 26.61, 5.64) |
| 11:34477574 | K>R | D:243 | (3.44, 28.60, 3.16) | |
| 11:34477577 | N>S | D:244 | (6.75, 24.92, 2.95) | |
| 11:34477594 | rs372785184 | A>T | D:250 | (15.90, 29.39, 4.03) |
| 11:34477595 | COSM1353659 | A>V | D:250 | (15.90, 29.39, 4.03) |
| 11:34477598 | A>V | D:251 | (19.16, 30.25, 3.57) | |
| 11:34477607 | rs201097281 | S>Y | D:254 | (19.31, 32.19, 7.76) |
| 11:34477610 | rs147298685 | Q>R | D:255 | (21.62, 36.27, 6.28) |
| 11:34477625 | Y>C | D:260 | (10.49, 34.49, 8.92) | |
| 11:34477630 | I>V | D:262 | (10.08, 35.34, 16.55) | |
| 11:34477633 | R>W | D:263 | (10.16, 39.80, 12.79) | |
| 11:34477634 | rs181531383 | R>Q | D:263 | (10.16, 39.80, 12.79) |
| 11:34477648 | rs372929400 | A>T | D:268 | (0.31, 38.55, 13.08) |
| 11:34477651 | I>V | D:269 | (-0.75, 38.47, 16.92) | |
| 11:34477657 | rs568790817 | T>P | D:271 | (-1.77, 42.86, 12.59) |
| 11:34477658 | T>R | D:271 | (-1.77, 42.86, 12.59) | |
| 11:34477660 | rs377499914 | G>R | D:272 | (-5.08, 40.60, 13.71) |
| 11:34477678 | T>A | D:278 | (-8.88, 22.79, 13.28) | |
| 11:34477693 | V>F | D:283 | (-10.59, 6.89, 17.84) | |
| 11:34477698 | M>I | D:284 | (-7.85, 2.76, 18.13) | |
| 11:34477706 | N>S | D:287 | (-11.02, -4.48, 20.31) | |
| 11:34477715 | E>V | D:290 | (-5.68, -6.64, 19.82) | |
| 11:34477717 | rs56248816 | T>A | D:291 | (-6.40, -5.91, 14.66) |
| 11:34478218 | rs141526214 | P>S | D:304 | (-4.49, 4.98, 8.66) |
| 11:34478219 | P>L | D:304 | (-4.49, 4.98, 8.66) | |
| 11:34478221 | H>Y | D:305 | (-6.54, 9.00, 6.36) | |
| 11:34478222 | rs200381065 | H>P | D:305 | (-6.54, 9.00, 6.36) |
| 11:34478223 | H>Q | D:305 | (-6.54, 9.00, 6.36) | |
| 11:34478229 | D>E | D:307 | (-8.64, 2.84, 8.46) | |
| 11:34478231 | Y>C | D:308 | (-8.29, 4.34, 12.31) | |
| 11:34478234 | P>R | D:309 | (-11.55, 8.72, 10.60) | |
| 11:34478246 | V>A | D:313 | (-13.06, 18.84, 18.78) | |
| 11:34478255 | rs199818445 | L>P | D:316 | (-6.26, 26.03, 18.71) |
| 11:34478257 | V>F | D:317 | (-6.99, 30.97, 18.77) | |
| 11:34478266 | R>W | D:320 | (-2.09, 37.06, 24.64) | |
| 11:34478267 | rs139421991 | R>Q | D:320 | (-2.09, 37.06, 24.64) |
| 11:34478300 | Q>R | D:331 | (10.56, 31.32, 32.65) | |
| 11:34478311 | rs367899200 COSM926631 |
D>N | D:335 | (4.98, 18.97, 32.02) |
| 11:34478321 | N>S | D:338 | (0.66, 18.04, 32.94) | |
| 11:34478329 | P>S | D:341 | (-9.26, 14.18, 34.60) | |
| 11:34478330 | P>L | D:341 | (-9.26, 14.18, 34.60) | |
| 11:34478347 | rs551303235 | P>S | D:347 | (1.64, 1.94, 26.22) |
| 11:34478348 | P>H | D:347 | (1.64, 1.94, 26.22) | |
| 11:34482799 | G>D | D:353 | (9.51, 8.91, 29.27) | |
| 11:34482827 | rs202096868 | H>Q | D:362 | (11.18, 21.70, 33.41) |
| 11:34482828 | COSM1353663 COSM77422 |
R>C | D:363 | (12.14, 19.37, 38.74) |
| 11:34482829 | COSM926632 | R>H | D:363 | (12.14, 19.37, 38.74) |
| 11:34482834 | R>C | D:365 | (14.85, 25.37, 32.12) | |
| 11:34482835 | R>H | D:365 | (14.85, 25.37, 32.12) | |
| 11:34482846 | N>Y | D:369 | (9.16, 25.91, 43.21) | |
| 11:34482847 | rs148712764 | N>S | D:369 | (9.16, 25.91, 43.21) |
| 11:34482859 | I>T | D:373 | (6.86, 30.54, 37.12) | |
| 11:34482862 | P>R | D:374 | (3.63, 33.08, 36.57) | |
| 11:34482864 | V>M | D:375 | (3.61, 31.06, 32.56) | |
| 11:34482865 | V>E | D:375 | (3.61, 31.06, 32.56) | |
| 11:34482868 | N>T | D:376 | (4.40, 27.70, 34.49) | |
| 11:34482876 | Y>D | D:379 | (-4.89, 30.88, 35.47) | |
| 11:34482877 | rs146556996 | Y>C | D:379 | (-4.89, 30.88, 35.47) |
| 11:34482879 | R>C | D:380 | (-9.03, 28.41, 34.92) | |
| 11:34482880 | rs140071186 | R>H | D:380 | (-9.03, 28.41, 34.92) |
| 11:34482892 | A>V | D:384 | (-4.12, 21.61, 47.25) | |
| 11:34482904 | R>P | D:388 | (4.22, 22.28, 52.04) | |
| 11:34482910 | rs144648293 | G>D | D:390 | (11.84, 25.26, 48.60) |
| 11:34482913 | P>L | D:391 | (13.88, 26.45, 46.25) | |
| 11:34482917 | rs148868158 | M>I | D:392 | (12.64, 30.93, 45.07) |
| 11:34485655 | G>D | D:400 | (-0.86, 26.27, 58.20) | |
| 11:34485679 | rs143563471 | S>N | D:408 | (-7.70, 15.00, 61.87) |
| 11:34485691 | P>L | D:412 | (-6.44, 18.69, 51.53) | |
| 11:34485705 | S>A | D:417 | (-13.39, 10.82, 40.36) | |
| 11:34485708 | rs376840225 | A>T | D:418 | (-9.63, 10.94, 39.69) |
| 11:34485718 | H>L | D:421 | (-8.51, 2.96, 32.74) | |
| 11:34485720 | rs140903091 | S>G | D:422 | (-7.81, 0.11, 35.24) |
| 11:34485727 | Q>R | D:424 | (-4.91, -7.09, 32.58) | |
| 11:34485744 | rs139875365 | R>W | D:430 | (11.74, -8.64, 28.72) |
| 11:34485745 | R>Q | D:430 | (11.74, -8.64, 28.72) | |
| 11:34485754 | rs200213411 | N>S | D:433 | (14.23, -5.54, 20.72) |
| 11:34485766 | D>V | D:437 | (9.45, -3.53, 14.86) | |
| 11:34485774 | rs201049382 | V>I | D:440 | (9.91, -0.21, 5.53) |
| 11:34489838 | R>W | D:444 | (7.51, 0.90, 0.69) | |
| 11:34489839 | rs138694186 | R>Q | D:444 | (7.51, 0.90, 0.69) |
| 11:34489841 | A>T | D:445 | (3.70, 4.83, 1.45) | |
| 11:34489848 | Y>C | D:447 | (9.24, 7.57, -2.40) | |
| 11:34489856 | V>M | D:450 | (2.25, 11.15, 0.52) | |
| 11:34489880 | rs373491820 | R>C | D:458 | (11.87, 18.65, -4.02) |
| 11:34489887 | C>F | D:460 | (16.55, 12.56, -2.89) | |
| 11:34489892 | rs377446988 | N>H | D:462 | (17.34, 17.55, 0.21) |
| 11:34489905 | rs370234500 | H>P | D:466 | (23.57, 16.18, 5.25) |
| 11:34489914 | D>V | D:469 | (29.61, 15.69, 3.78) | |
| 11:34489930 | I>M | D:474 | (27.96, 6.03, 6.74) | |
| 11:34489941 | rs201903015 | A>V | D:478 | (22.00, 4.46, 4.16) |
| 11:34492514 | F>I | D:482 | (17.07, 5.18, 2.10) | |
| 11:34492517 | rs142700783 | T>A | D:483 | (16.98, 0.24, -1.20) |
| 11:34492521 | E>G | D:484 | (15.41, -2.18, 2.80) | |
| 11:34492523 | V>I | D:485 | (12.02, 1.73, 1.35) | |
| 11:34492544 | H>Y | D:492 | (17.51, 9.88, -7.16) | |
| 11:34492548 | rs144800919 | I>T | D:493 | (19.91, 8.91, -2.95) |
| 11:34492551 | Q>R | D:494 | (24.27, 6.33, -4.58) | |
| 11:34492571 | N>D | D:501 | (31.71, 11.84, -4.44) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:34475378 | COSM3446965 | P>S | D:206 | (8.25, 25.36, 7.88) |
| 11:34478364 | COSM333523 | Q>H | D:352 | (5.54, 5.89, 29.47) |
| 11:34482828 | COSM1353663 | R>S | D:363 | (12.14, 19.37, 38.74) |