General Structure Information
| PDB ID | 2jis |
| HGNC Gene Label(s) | CSAD |
| Structure Name | human cysteine sulfinic acid decarboxylase (csad) in complex with plp. |
| Resolution | 1.6Å |
| Reference | AUTH R.COLLINS,M.MOCHE,C.ARROWSMITH,H.BERGLUND,R.BUSAM,AUTH 2 L.G.DAHLGREN,A.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,B.M.HALLBERG,I.JOHANSSON,AUTH 4 A.KALLAS,T.KARLBERG,T.KOTENYOVA,L.LEHTIO,AUTH 5 P.NORDLUND,T.NYMAN,D.OGG,C.PERSSON,J.SAGEMARK,AUTH 6 P.STENMARK,M.SUNDSTROM,A.G.THORSELL,L.TRESAUGUES,AUTH 7 S.VAN DEN BERG,J.WEIGELT,M.WELIN,AUTH 8 L.HOLMBERG-SCHIAVONETITL THE CRYSTAL STRUCTURE OF HUMAN CYSTEINE SULFINICTITL 2 ACID DECARBOXYLASE (CSAD)REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 487 |
| Number Of SNVs | 135 |
| Number Of Permutations | 35627 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.028 |
| p-value | 0.792 |
COSMIC
| Number Of Residues | 487 |
| Number Of SNVs | 3 |
| Number Of Permutations | 65 |
| Optimal Distance Threshold | 38.0 |
| K Statistic | 0.333 |
| p-value | 0.717 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:53567235 | rs73309146 | L>H | B:7 | (20.60, 108.89, 16.76) |
| 12:53567236 | L>I | B:7 | (20.60, 108.89, 16.76) | |
| 12:53567229 | S>F | B:9 | (22.88, 107.20, 23.99) | |
| 12:53567185 | V>M | B:24 | (25.15, 108.78, 45.73) | |
| 12:53567170 | V>M | B:29 | (27.29, 105.28, 53.81) | |
| 12:53567167 | D>N | B:30 | (28.60, 108.94, 55.17) | |
| 12:53567163 | E>G | B:31 | (25.10, 111.39, 55.93) | |
| 12:53567164 | E>K | B:31 | (25.10, 111.39, 55.93) | |
| 12:53567161 | A>T | B:32 | (21.87, 107.33, 56.06) | |
| 12:53567148 | G>E | B:36 | (20.94, 107.53, 61.03) | |
| 12:53567149 | rs374098079 | G>R | B:36 | (20.94, 107.53, 61.03) |
| 12:53567140 | V>L | B:39 | (22.86, 107.67, 69.54) | |
| 12:53566377 | R>Q | B:61 | (13.02, 123.64, 37.13) | |
| 12:53566375 | rs138763139 | S>G | B:62 | (13.26, 123.03, 31.34) |
| 12:53566369 | G>S | B:64 | (18.90, 120.78, 34.09) | |
| 12:53566366 | E>K | B:65 | (20.45, 120.20, 37.86) | |
| 12:53566341 | R>Q | B:73 | (18.67, 119.02, 44.93) | |
| 12:53566342 | rs543917331 | R>W | B:73 | (18.67, 119.02, 44.93) |
| 12:53566332 | rs542909515 | A>G | B:76 | (19.03, 117.52, 51.60) |
| 12:53566333 | A>P | B:76 | (19.03, 117.52, 51.60) | |
| 12:53566330 | V>L | B:77 | (16.74, 114.46, 50.85) | |
| 12:53566324 | rs149962027 | R>C | B:79 | (20.30, 118.20, 56.93) |
| 12:53566320 | Y>S | B:80 | (16.68, 118.74, 56.05) | |
| 12:53566318 | S>G | B:81 | (14.74, 112.94, 56.30) | |
| 12:53566217 | H>R | B:86 | (17.82, 106.86, 65.63) | |
| 12:53566212 | rs144788415 | R>W | B:88 | (17.04, 107.20, 70.88) |
| 12:53566209 | F>V | B:89 | (11.49, 106.05, 64.80) | |
| 12:53566201 | N>K | B:91 | (6.23, 107.22, 65.67) | |
| 12:53566202 | rs545243714 | N>S | B:91 | (6.23, 107.22, 65.67) |
| 12:53566180 | D>E | B:98 | (18.72, 94.92, 58.37) | |
| 12:53566179 | P>T | B:99 | (22.03, 95.39, 57.01) | |
| 12:53566174 | rs149264090 | H>Q | B:100 | (21.92, 91.66, 55.57) |
| 12:53566164 | COSM4043007 COSM4043006 |
G>R | B:104 | (18.21, 93.83, 48.79) |
| 12:53566160 | rs200951993 | R>H | B:105 | (15.88, 97.43, 51.07) |
| 12:53566161 | R>C | B:105 | (15.88, 97.43, 51.07) | |
| 12:53565770 | Y>C | B:116 | (3.66, 88.83, 35.33) | |
| 12:53565765 | Y>N | B:118 | (11.29, 81.51, 35.38) | |
| 12:53565756 | rs138203066 | A>T | B:121 | (11.55, 86.78, 37.32) |
| 12:53565728 | E>A | B:130 | (11.02, 79.21, 50.16) | |
| 12:53565715 | K>N | B:134 | (9.63, 79.42, 56.20) | |
| 12:53565710 | rs147020312 | R>Q | B:136 | (2.70, 78.61, 53.64) |
| 12:53565711 | rs140068701 | R>W | B:136 | (2.70, 78.61, 53.64) |
| 12:53565696 | W>R | B:141 | (-0.99, 76.91, 57.22) | |
| 12:53565683 | D>V | B:145 | (-1.26, 79.69, 48.08) | |
| 12:53565680 | G>E | B:146 | (0.09, 82.95, 48.21) | |
| 12:53565666 | G>S | B:151 | (-0.15, 95.84, 51.96) | |
| 12:53565214 | S>P | B:155 | (-3.89, 91.66, 52.35) | |
| 12:53565207 | M>T | B:157 | (-9.23, 94.16, 50.44) | |
| 12:53565204 | rs142908260 | Y>C | B:158 | (-6.12, 90.38, 47.65) |
| 12:53565186 | rs200673743 | R>H | B:164 | (-16.94, 88.55, 47.66) |
| 12:53565187 | R>C | B:164 | (-16.94, 88.55, 47.66) | |
| 12:53565183 | rs371744750 | Y>C | B:165 | (-14.88, 83.30, 43.90) |
| 12:53565171 | rs148563778 | P>L | B:169 | (-18.76, 82.19, 42.68) |
| 12:53565153 | G>D | B:175 | (-22.27, 90.89, 41.50) | |
| 12:53565147 | rs151182628 | R>H | B:177 | (-27.54, 94.69, 42.48) |
| 12:53565148 | R>C | B:177 | (-27.54, 94.69, 42.48) | |
| 12:53565145 | T>A | B:178 | (-28.68, 90.41, 43.40) | |
| 12:53565138 | P>L | B:180 | (-27.51, 88.11, 49.89) | |
| 12:53565139 | rs367889780 | P>S | B:180 | (-27.51, 88.11, 49.89) |
| 12:53565127 | L>V | B:184 | (-17.76, 91.42, 57.82) | |
| 12:53565121 | T>A | B:186 | (-13.96, 93.15, 63.52) | |
| 12:53565111 | E>G | B:189 | (-9.19, 97.39, 69.50) | |
| 12:53564286 | C>R | B:190 | (-9.11, 96.11, 64.24) | |
| 12:53564274 | I>F | B:194 | (-11.73, 95.69, 57.72) | |
| 12:53564269 | Q>H | B:195 | (-14.48, 99.88, 58.30) | |
| 12:53564270 | Q>R | B:195 | (-14.48, 99.88, 58.30) | |
| 12:53564262 | A>T | B:198 | (-15.81, 97.17, 52.61) | |
| 12:53564258 | rs201933521 COSM940926 COSM1586562 |
A>V | B:199 | (-16.17, 100.19, 50.80) |
| 12:53564259 | A>S | B:199 | (-16.17, 100.19, 50.80) | |
| 12:53564234 | S>T | B:207 | (-20.84, 95.06, 56.41) | |
| 12:53564228 | rs575257751 | R>Q | B:209 | (-22.10, 93.63, 61.70) |
| 12:53563901 | rs550597583 | M>I | B:219 | (-12.63, 89.50, 69.98) |
| 12:53563900 | V>I | B:220 | (-15.64, 89.02, 73.39) | |
| 12:53563894 | rs149431326 | E>K | B:222 | (-18.87, 85.78, 74.49) |
| 12:53563890 | D>A | B:223 | (-20.24, 90.03, 71.21) | |
| 12:53563876 | I>V | B:228 | (-23.16, 85.99, 64.15) | |
| 12:53563872 | G>A | B:229 | (-27.40, 86.76, 65.12) | |
| 12:53563873 | G>S | B:229 | (-27.40, 86.76, 65.12) | |
| 12:53563867 | rs139395448 | A>T | B:231 | (-27.10, 89.62, 61.38) |
| 12:53555145 | T>I | B:244 | (-6.44, 90.95, 65.50) | |
| 12:53555112 | rs201265883 COSM1512489 COSM1512488 |
P>L | B:255 | (-9.21, 84.78, 71.19) |
| 12:53555113 | rs200339124 | P>S | B:255 | (-9.21, 84.78, 71.19) |
| 12:53555103 | A>G | B:258 | (-12.60, 80.61, 70.38) | |
| 12:53555101 | I>V | B:259 | (-12.56, 83.19, 67.28) | |
| 12:53555092 | V>M | B:262 | (-17.56, 80.71, 66.45) | |
| 12:53555085 | Q>R | B:264 | (-16.09, 74.87, 63.30) | |
| 12:53555082 | R>H | B:265 | (-19.94, 76.91, 66.56) | |
| 12:53555083 | R>C | B:265 | (-19.94, 76.91, 66.56) | |
| 12:53555071 | W>R | B:269 | (-12.36, 82.70, 54.81) | |
| 12:53555058 | D>G | B:273 | (-4.74, 91.15, 60.93) | |
| 12:53554959 | S>N | B:279 | (6.56, 88.17, 63.45) | |
| 12:53554957 | V>I | B:280 | (5.66, 86.39, 67.37) | |
| 12:53554935 | R>K | B:287 | (4.74, 79.43, 69.20) | |
| 12:53554930 | L>I | B:289 | (0.47, 85.17, 71.81) | |
| 12:53554627 | A>S | B:296 | (-7.08, 79.78, 59.48) | |
| 12:53554548 | rs199603070 | S>L | B:322 | (-7.86, 75.33, 44.78) |
| 12:53554103 | rs142718055 | N>D | B:323 | (-5.33, 77.50, 42.16) |
| 12:53554090 | rs368428943 COSM4042995 COSM4042994 |
R>H | B:327 | (-10.49, 79.61, 41.13) |
| 12:53554091 | COSM4042997 COSM4042996 |
R>C | B:327 | (-10.49, 79.61, 41.13) |
| 12:53554087 | C>Y | B:328 | (-10.72, 85.09, 42.16) | |
| 12:53554088 | C>R | B:328 | (-10.72, 85.09, 42.16) | |
| 12:53554084 | H>R | B:329 | (-7.93, 87.57, 41.92) | |
| 12:53554078 | S>F | B:331 | (-8.10, 86.97, 33.44) | |
| 12:53554059 | rs565928873 | F>L | B:337 | (-4.11, 81.22, 17.40) |
| 12:53554054 | Q>R | B:339 | (0.42, 80.36, 23.10) | |
| 12:53554039 | D>V | B:344 | (5.99, 75.36, 34.32) | |
| 12:53554031 | L>V | B:347 | (6.12, 78.86, 38.25) | |
| 12:53554024 | rs530642510 | T>M | B:349 | (1.86, 85.13, 39.92) |
| 12:53554015 | COSM3987027 COSM3987026 |
K>R | B:352 | (-2.05, 84.26, 42.34) |
| 12:53554016 | rs375673379 | K>E | B:352 | (-2.05, 84.26, 42.34) |
| 12:53553998 | rs150120460 | R>C | B:358 | (4.01, 91.70, 42.04) |
| 12:53553994 | R>H | B:359 | (8.24, 96.74, 44.05) | |
| 12:53553985 | C>Y | B:362 | (11.28, 88.54, 48.24) | |
| 12:53553967 | M>T | B:368 | (17.15, 89.43, 56.78) | |
| 12:53553965 | W>R | B:369 | (14.26, 84.27, 57.27) | |
| 12:53553956 | rs140812488 | Q>E | B:372 | (20.02, 86.68, 61.15) |
| 12:53553952 | rs201197246 | G>D | B:373 | (17.98, 83.01, 60.62) |
| 12:53553934 | R>Q | B:379 | (19.40, 87.10, 69.83) | |
| 12:53553931 | R>H | B:380 | (16.66, 90.73, 65.71) | |
| 12:53553926 | rs148036929 | D>N | B:382 | (12.86, 86.90, 72.31) |
| 12:53553919 | A>D | B:384 | (11.83, 93.09, 72.30) | |
| 12:53553907 | A>G | B:388 | (9.23, 96.08, 76.98) | |
| 12:53553904 | R>Q | B:389 | (8.13, 92.14, 79.38) | |
| 12:53553905 | rs143579397 | R>W | B:389 | (8.13, 92.14, 79.38) |
| 12:53553711 | E>G | B:393 | (8.99, 96.88, 85.63) | |
| 12:53553709 | rs376371215 | E>K | B:394 | (12.64, 100.73, 85.29) |
| 12:53553685 | rs369706851 | E>Q | B:402 | (-0.90, 106.24, 84.20) |
| 12:53553673 | E>Q | B:406 | (0.87, 95.17, 82.19) | |
| 12:53553483 | N>S | B:411 | (2.69, 97.77, 71.95) | |
| 12:53553481 | V>M | B:412 | (4.61, 100.36, 75.96) | |
| 12:53553465 | rs371460158 | V>E | B:417 | (1.84, 112.77, 85.12) |
| 12:53553466 | V>I | B:417 | (1.84, 112.77, 85.12) | |
| 12:53553463 | rs200919847 | P>S | B:418 | (2.92, 116.46, 84.77) |
| 12:53553448 | G>R | B:423 | (-2.48, 114.54, 92.83) | |
| 12:53553427 | Y>D | B:430 | (-6.17, 114.21, 85.93) | |
| 12:53552464 | A>V | B:438 | (1.52, 114.38, 74.79) | |
| 12:53552462 | P>S | B:439 | (0.56, 116.69, 72.64) | |
| 12:53552458 | rs192115010 | V>G | B:440 | (3.46, 119.47, 74.47) |
| 12:53552452 | K>R | B:442 | (5.63, 114.40, 69.79) | |
| 12:53552444 | rs143563275 | M>V | B:445 | (10.23, 114.78, 71.32) |
| 12:53552426 | M>V | B:451 | (12.52, 111.15, 71.42) | |
| 12:53552417 | G>S | B:454 | (3.47, 108.06, 69.84) | |
| 12:53552414 | Y>H | B:455 | (0.01, 111.65, 70.33) | |
| 12:53552407 | P>L | B:457 | (-6.66, 108.68, 71.62) | |
| 12:53552398 | T>I | B:460 | (-12.89, 106.53, 77.75) | |
| 12:53552395 | rs113376671 | R>Q | B:461 | (-8.13, 107.80, 79.64) |
| 12:53552396 | R>W | B:461 | (-8.13, 107.80, 79.64) | |
| 12:53552392 | COSM177657 | G>D | B:462 | (-6.66, 110.08, 76.28) |
| 12:53552393 | G>S | B:462 | (-6.66, 110.08, 76.28) | |
| 12:53552380 | rs141240527 | R>H | B:466 | (2.37, 103.48, 69.94) |
| 12:53552381 | R>C | B:466 | (2.37, 103.48, 69.94) | |
| 12:53552372 | V>L | B:469 | (10.02, 97.87, 71.54) | |
| 12:53552353 | T>S | B:475 | (20.01, 99.25, 74.45) | |
| 12:53552350 | C>Y | B:476 | (18.71, 99.13, 78.35) | |
| 12:53552341 | M>T | B:479 | (14.44, 102.09, 77.07) | |
| 12:53552336 | rs201988379 | F>I | B:481 | (17.18, 108.95, 76.29) |
| 12:53552326 | N>S | B:484 | (15.67, 110.12, 81.68) | |
| 12:53552324 | COSM1734807 COSM1734806 |
E>K | B:485 | (14.26, 113.36, 77.29) |
| 12:53552314 | rs150011882 | R>Q | B:488 | (14.74, 117.28, 79.62) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:53564258 | COSM1586562 | A>V | B:199 | (-16.17, 100.19, 50.80) |
| 12:53553926 | COSM940924 | D>N | B:382 | (12.86, 86.90, 72.31) |
| 12:53552447 | COSM191125 | R>C | B:444 | (8.68, 120.45, 74.52) |