General Structure Information
| PDB ID | 4g1c |
| HGNC Gene Label(s) | SIRT5 |
| Structure Name | human sirt5 bound to succ-idh2 and carba-nad |
| Resolution | 1.94Å |
| Reference | AUTH B.G.SZCZEPANKIEWICZ,H.DAI,K.J.KOPPETSCH,D.QIAN,F.JIANG,AUTH 2 C.MAO,R.B.PERNITITL SYNTHESIS OF CARBA-NAD AND THE STRUCTURES OF ITS TERNARYTITL 2 COMPLEXES WITH SIRT3 AND SIRT5.REF J.ORG.CHEM. V. 77 7319 2012REFN ISSN 0022-3263PMID 22849721DOI 10.1021/JO301067E |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 267 |
| Number Of SNVs | 84 |
| Number Of Permutations | 38420 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.141 |
| p-value | 0.681 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 6:13588578 | COSM258012 COSM258013 |
R>Q | B:44 | (0.63, 49.19, 27.60) |
| 6:13588646 | rs142986214 | V>L | B:67 | (1.34, 26.16, 10.68) |
| 6:13588649 | P>S | B:68 | (2.38, 22.64, 10.40) | |
| 6:13588650 | COSM3410607 COSM3410608 |
P>L | B:68 | (2.38, 22.64, 10.40) |
| 6:13588653 | T>N | B:69 | (5.07, 22.58, 14.08) | |
| 6:13588658 | rs201440696 | R>G | B:71 | (9.19, 17.05, 18.16) |
| 6:13588668 | G>V | B:74 | (2.90, 15.93, 15.86) | |
| 6:13588674 | rs199972179 | Y>C | B:76 | (5.65, 12.12, 13.98) |
| 6:13588695 | Q>R | B:83 | (14.09, 17.14, 14.34) | |
| 6:13591901 | D>H | B:84 | (14.98, 13.19, 11.41) | |
| 6:13591902 | rs151080671 | D>G | B:84 | (14.98, 13.19, 11.41) |
| 6:13591908 | rs141049222 | A>V | B:86 | (16.08, 19.00, 9.21) |
| 6:13591913 | P>S | B:88 | (22.41, 17.71, 6.82) | |
| 6:13591935 | rs202061819 COSM233369 COSM233370 |
P>L | B:95 | (17.20, 14.33, -2.17) |
| 6:13591938 | rs372975181 | S>F | B:96 | (13.21, 13.18, -3.00) |
| 6:13591940 | rs201184922 | R>W | B:97 | (12.48, 10.80, 2.03) |
| 6:13591941 | rs202209176 | R>Q | B:97 | (12.48, 10.80, 2.03) |
| 6:13591950 | E>V | B:100 | (8.19, 14.58, -1.00) | |
| 6:13591954 | rs201979175 | F>L | B:101 | (9.15, 17.78, 4.83) |
| 6:13591958 | H>Y | B:103 | (5.75, 20.30, -2.21) | |
| 6:13591965 | rs200525112 | R>Q | B:105 | (6.88, 22.45, 5.59) |
| 6:13591967 | rs201187185 | R>W | B:106 | (6.69, 25.51, -0.89) |
| 6:13591983 | rs532065496 | S>N | B:111 | (-4.18, 27.88, 3.46) |
| 6:13591986 | rs375984507 | K>T | B:112 | (-2.47, 28.41, 6.50) |
| 6:13591990 | rs145299575 | E>D | B:113 | (-3.45, 33.69, 6.23) |
| 6:13591991 | rs199661343 | P>T | B:114 | (-1.74, 35.93, 9.30) |
| 6:13591998 | rs35745768 | A>D | B:116 | (-3.58, 38.23, 15.93) |
| 6:13592000 | rs146470521 | G>R | B:117 | (-0.27, 38.22, 16.51) |
| 6:13592006 | R>C | B:119 | (-3.27, 40.48, 12.63) | |
| 6:13592007 | COSM1073638 COSM1073639 |
R>H | B:119 | (-3.27, 40.48, 12.63) |
| 6:13592016 | A>V | B:122 | (2.89, 44.60, 12.44) | |
| 6:13592020 | rs567756394 | E>D | B:123 | (-0.80, 46.37, 13.69) |
| 6:13592030 | rs199938759 | R>W | B:127 | (1.39, 51.99, 16.15) |
| 6:13592031 | rs200846116 | R>Q | B:127 | (1.39, 51.99, 16.15) |
| 6:13592033 | rs201987782 | L>V | B:128 | (6.07, 52.51, 17.28) |
| 6:13592048 | rs200208625 | R>W | B:133 | (8.56, 54.09, 19.39) |
| 6:13592052 | R>Q | B:134 | (14.16, 49.96, 15.06) | |
| 6:13592057 | rs138633880 | V>M | B:136 | (12.95, 44.39, 15.18) |
| 6:13592078 | rs201247677 | D>N | B:143 | (6.17, 30.56, 8.00) |
| 6:13592081 | E>K | B:144 | (7.49, 34.05, 4.74) | |
| 6:13592090 | rs139920526 | R>C | B:147 | (7.35, 38.73, 3.83) |
| 6:13592091 | rs200249177 COSM1440677 COSM1440678 |
R>H | B:147 | (7.35, 38.73, 3.83) |
| 6:13592124 | rs143612733 | H>R | B:158 | (16.33, 29.37, 11.35) |
| 6:13595744 | rs199854042 | V>I | B:171 | (22.42, 31.37, -6.05) |
| 6:13595747 | rs188775956 | V>M | B:172 | (19.83, 32.74, -2.89) |
| 6:13595750 | rs148020996 | A>T | B:173 | (16.15, 32.42, -4.68) |
| 6:13595753 | E>K | B:174 | (12.26, 35.04, -3.85) | |
| 6:13595757 | N>S | B:175 | (10.56, 29.70, -5.30) | |
| 6:13595765 | rs145972102 | S>R | B:178 | (2.64, 25.83, -7.22) |
| 6:13595775 | C>F | B:181 | (8.68, 20.68, -9.55) | |
| 6:13595777 | rs201704328 | P>S | B:182 | (6.83, 19.20, -12.35) |
| 6:13595784 | rs200388975 | L>S | B:184 | (7.00, 17.61, -6.32) |
| 6:13595795 | G>S | B:188 | (3.82, 14.91, 0.07) | |
| 6:13597233 | V>A | B:201 | (18.33, 14.14, -8.89) | |
| 6:13597235 | E>K | B:202 | (17.86, 16.30, -13.36) | |
| 6:13597237 | E>D | B:202 | (17.86, 16.30, -13.36) | |
| 6:13597245 | P>L | B:205 | (14.46, 21.40, -7.90) | |
| 6:13597248 | COSM3393826 COSM3393827 |
R>Q | B:206 | (18.37, 21.08, -10.98) |
| 6:13599268 | rs199558608 | E>K | B:208 | (16.75, 28.28, -14.00) |
| 6:13599275 | A>V | B:210 | (23.67, 30.76, -15.91) | |
| 6:13599280 | C>R | B:212 | (23.88, 25.90, -13.43) | |
| 6:13599287 | G>D | B:214 | (21.90, 22.53, -10.22) | |
| 6:13599299 | P>R | B:218 | (15.84, 23.99, 0.79) | |
| 6:13599328 | rs35730049 | D>Y | B:228 | (24.05, 34.02, 7.87) |
| 6:13599331 | rs201467255 | P>S | B:229 | (27.26, 35.01, 9.59) |
| 6:13599334 | rs199917917 | A>T | B:230 | (25.38, 38.46, 8.65) |
| 6:13599346 | E>K | B:234 | (21.52, 42.22, 11.35) | |
| 6:13599350 | V>A | B:235 | (20.74, 39.56, 15.88) | |
| 6:13599352 | rs202074148 | D>N | B:236 | (24.26, 40.31, 17.88) |
| 6:13599360 | COSM1162657 COSM1162658 |
E>D | B:238 | (18.81, 44.88, 16.90) |
| 6:13599364 | A>T | B:240 | (22.60, 45.32, 22.38) | |
| 6:13599371 | rs200377799 | C>Y | B:242 | (17.26, 46.69, 23.21) |
| 6:13599377 | L>S | B:244 | (11.49, 46.15, 25.49) | |
| 6:13599382 | rs201991505 | L>V | B:246 | (8.75, 41.08, 23.24) |
| 6:13599385 | V>L | B:247 | (9.86, 36.09, 23.99) | |
| 6:13601066 | rs150051127 | V>L | B:248 | (6.64, 35.13, 21.23) |
| 6:13601072 | rs145409640 | T>A | B:250 | (9.83, 30.54, 22.49) |
| 6:13601075 | S>A | B:251 | (9.25, 26.32, 23.91) | |
| 6:13601106 | rs373453442 | A>V | B:261 | (16.26, 36.65, 25.94) |
| 6:13601112 | rs140128318 | Q>P | B:263 | (22.30, 37.85, 27.15) |
| 6:13601115 | rs201526536 | V>A | B:264 | (18.28, 40.94, 27.02) |
| 6:13601124 | R>M | B:267 | (21.70, 44.26, 28.56) | |
| 6:13601129 | rs146449652 | V>M | B:269 | (16.71, 44.76, 29.53) |
| 6:13601144 | F>L | B:274 | (3.99, 37.33, 25.41) | |
| 6:13601151 | COSM98217 | T>M | B:276 | (1.30, 28.14, 26.47) |
| 6:13601169 | rs143092270 | T>M | B:282 | (10.40, 32.30, 32.87) |
| 6:13601179 | rs9464003 | F>L | B:285 | (12.24, 36.39, 31.34) |
| 6:13612026 | COSM1754543 | H>Y | B:288 | (4.87, 34.69, 31.89) |
| 6:13612027 | H>R | B:288 | (4.87, 34.69, 31.89) | |
| 6:13612041 | C>R | B:293 | (-0.03, 34.67, 21.59) | |
| 6:13612048 | rs550780850 | T>M | B:295 | (-5.25, 36.47, 23.26) |
| 6:13612065 | L>V | B:301 | (1.22, 45.28, 21.15) |