General Structure Information
| PDB ID | 3rod |
| HGNC Gene Label(s) | NNMT |
| Structure Name | methyltransferase |
| Resolution | 2.72Å |
| Reference | AUTH Y.PENG,D.SARTINI,V.POZZI,D.WILK,M.EMANUELLI,V.C.YEETITL STRUCTURAL BASIS OF SUBSTRATE RECOGNITION IN HUMANTITL 2 NICOTINAMIDE N-METHYLTRANSFERASE.REF BIOCHEMISTRY V. 50 7800 2011REFN ISSN 0006-2960PMID 21823666DOI 10.1021/BI2007614 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 259 |
| Number Of SNVs | 93 |
| Number Of Permutations | 25170 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.254 |
| p-value | 0.513 |
COSMIC
| Number Of Residues | 259 |
| Number Of SNVs | 3 |
| Number Of Permutations | 103 |
| Optimal Distance Threshold | 31.0 |
| K Statistic | 0.333 |
| p-value | 0.227 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 93 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | -0.581 |
| p-value | 0.047 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:114167289 | G>V | B:4 | (13.76, 1.13, 18.69) | |
| 11:114167295 | T>N | B:6 | (12.69, 2.45, 12.64) | |
| 11:114167297 | S>A | B:7 | (13.33, 6.39, 12.64) | |
| 11:114167309 | rs371475692 | Y>H | B:11 | (12.12, 4.03, 6.71) |
| 11:114167320 | rs202205364 | H>Q | B:14 | (19.90, 3.81, 6.57) |
| 11:114167328 | rs368899211 | P>L | B:17 | (15.09, 1.93, -3.11) |
| 11:114167331 | rs368443208 | R>Q | B:18 | (18.59, 0.49, -5.23) |
| 11:114167346 | K>I | B:23 | (15.76, -8.28, -1.62) | |
| 11:114167354 | rs144899119 | K>E | B:26 | (13.16, -10.84, -7.99) |
| 11:114167355 | COSM540909 | K>M | B:26 | (13.16, -10.84, -7.99) |
| 11:114167364 | COSM75623 | S>F | B:29 | (10.23, -19.47, -11.26) |
| 11:114167400 | L>R | B:41 | (-0.96, -8.90, -2.53) | |
| 11:114167423 | F>L | B:49 | (-9.33, -2.27, -7.29) | |
| 11:114168676 | G>D | B:53 | (-17.13, -1.72, -6.67) | |
| 11:114168684 | G>R | B:56 | (-13.21, 6.39, -9.31) | |
| 11:114168697 | I>T | B:60 | (-4.88, 8.54, -2.28) | |
| 11:114168699 | COSM3791199 | D>N | B:61 | (-0.99, 4.91, -2.46) |
| 11:114168700 | rs150359341 | D>A | B:61 | (-0.99, 4.91, -2.46) |
| 11:114168705 | G>S | B:63 | (3.20, 4.14, 0.85) | |
| 11:114168709 | S>F | B:64 | (3.91, 3.73, -2.47) | |
| 11:114168714 | P>S | B:66 | (9.44, 1.85, -4.32) | |
| 11:114168715 | P>H | B:66 | (9.44, 1.85, -4.32) | |
| 11:114168717 | rs200017623 | T>A | B:67 | (6.05, 0.02, -5.25) |
| 11:114168718 | rs374843533 | T>I | B:67 | (6.05, 0.02, -5.25) |
| 11:114168724 | Y>S | B:69 | (2.37, -4.05, -5.81) | |
| 11:114168729 | rs56077214 | L>F | B:71 | (-1.09, 1.13, -8.59) |
| 11:114168736 | S>C | B:73 | (-5.81, -3.12, -10.79) | |
| 11:114168739 | rs369210703 COSM1196178 |
A>G | B:74 | (-6.71, 0.63, -9.64) |
| 11:114168746 | E>D | B:76 | (-8.36, -0.62, -15.18) | |
| 11:114168753 | K>E | B:79 | (-10.22, 9.48, -14.03) | |
| 11:114168762 | V>F | B:82 | (-2.21, 10.33, -5.70) | |
| 11:114168765 | rs137978367 | V>I | B:83 | (1.53, 8.12, -5.63) |
| 11:114168768 | T>A | B:84 | (2.31, 8.78, -1.41) | |
| 11:114168789 | L>M | B:91 | (9.02, 9.53, -4.21) | |
| 11:114168793 | Q>R | B:92 | (13.51, 9.83, -6.54) | |
| 11:114168809 | rs143577747 | W>C | B:97 | (7.28, 2.37, -14.25) |
| 11:114168811 | L>R | B:98 | (6.13, 6.99, -13.76) | |
| 11:114168828 | A>P | B:104 | (14.00, 1.32, -14.32) | |
| 11:114168846 | rs374092212 | V>L | B:110 | (4.16, -8.01, -12.30) |
| 11:114168847 | V>E | B:110 | (4.16, -8.01, -12.30) | |
| 11:114168867 | L>I | B:117 | (-5.44, -11.98, -13.24) | |
| 11:114168868 | rs560223478 | L>P | B:117 | (-5.44, -11.98, -13.24) |
| 11:114168870 | E>K | B:118 | (-7.05, -7.88, -15.67) | |
| 11:114168874 | G>E | B:119 | (-8.10, -11.34, -19.55) | |
| 11:114168876 | N>D | B:120 | (-4.69, -11.15, -21.71) | |
| 11:114168877 | N>T | B:120 | (-4.69, -11.15, -21.71) | |
| 11:114182774 | G>S | B:124 | (1.67, -4.48, -21.03) | |
| 11:114182775 | G>D | B:124 | (1.67, -4.48, -21.03) | |
| 11:114182782 | rs142472969 | E>D | B:126 | (-2.41, -1.21, -23.29) |
| 11:114182789 | rs140310297 | E>K | B:129 | (0.63, 4.23, -20.95) |
| 11:114182798 | R>G | B:132 | (3.52, 5.13, -17.22) | |
| 11:114182805 | rs201383251 | A>V | B:134 | (-3.16, 7.72, -13.91) |
| 11:114182808 | V>D | B:135 | (-0.02, 8.74, -11.90) | |
| 11:114182823 | rs56329324 | K>R | B:140 | (6.63, 13.72, 1.52) |
| 11:114182826 | C>F | B:141 | (3.54, 11.31, 3.21) | |
| 11:114182838 | rs201257954 | Q>R | B:145 | (1.51, 14.78, 10.76) |
| 11:114182842 | S>R | B:146 | (-2.98, 15.60, 11.01) | |
| 11:114182850 | L>R | B:149 | (-0.59, 15.10, 1.99) | |
| 11:114182855 | A>S | B:151 | (-0.86, 21.92, 2.11) | |
| 11:114182858 | V>I | B:152 | (-1.19, 19.43, -0.96) | |
| 11:114182862 | P>L | B:153 | (-4.36, 21.01, -2.37) | |
| 11:114182865 | L>S | B:154 | (-6.16, 16.78, -2.62) | |
| 11:114182867 | rs367956940 | P>S | B:155 | (-9.73, 16.33, -4.00) |
| 11:114182870 | P>T | B:156 | (-12.51, 14.74, -1.50) | |
| 11:114182871 | P>L | B:156 | (-12.51, 14.74, -1.50) | |
| 11:114182876 | D>H | B:158 | (-13.22, 8.22, -4.20) | |
| 11:114182879 | C>G | B:159 | (-9.68, 5.39, -2.36) | |
| 11:114182909 | rs374377399 | A>T | B:169 | (5.04, 3.85, 10.35) |
| 11:114182915 | rs562426461 | P>S | B:171 | (5.38, 3.01, 16.57) |
| 11:114182918 | D>H | B:172 | (2.14, 2.99, 18.79) | |
| 11:114182921 | rs199632542 | L>F | B:173 | (-2.15, 0.82, 18.77) |
| 11:114182924 | P>A | B:174 | (-1.84, 4.96, 19.48) | |
| 11:114182925 | rs372156533 | P>L | B:174 | (-1.84, 4.96, 19.48) |
| 11:114182927 | T>A | B:175 | (0.55, 6.25, 16.16) | |
| 11:114182928 | T>I | B:175 | (0.55, 6.25, 16.16) | |
| 11:114182933 | rs552025341 | C>R | B:177 | (-5.18, 4.65, 15.57) |
| 11:114182950 | rs200319273 | N>K | B:182 | (-4.83, 10.97, 10.22) |
| 11:114182957 | S>R | B:185 | (-8.79, 13.28, 6.23) | |
| 11:114182961 | rs142397660 | L>P | B:186 | (-7.63, 12.26, 2.62) |
| 11:114182964 | L>Q | B:187 | (-11.86, 9.56, 2.28) | |
| 11:114182979 | F>C | B:192 | (-14.22, 2.37, -0.80) | |
| 11:114182984 | V>M | B:194 | (-7.75, -0.67, 0.72) | |
| 11:114182985 | V>E | B:194 | (-7.75, -0.67, 0.72) | |
| 11:114182987 | I>V | B:195 | (-5.30, -1.64, 4.30) | |
| 11:114182990 | M>V | B:196 | (-2.84, -4.99, 1.79) | |
| 11:114182996 | A>T | B:198 | (1.55, -7.67, 8.31) | |
| 11:114182997 | rs375954126 COSM923294 |
A>V | B:198 | (1.55, -7.67, 8.31) |
| 11:114183008 | S>G | B:202 | (8.93, -7.22, 14.40) | |
| 11:114183017 | M>V | B:205 | (15.62, -7.56, 6.70) | |
| 11:114183019 | M>I | B:205 | (15.62, -7.56, 6.70) | |
| 11:114183021 | I>T | B:206 | (16.16, -4.15, 3.23) | |
| 11:114183026 | E>K | B:208 | (21.46, -6.85, 7.88) | |
| 11:114183037 | rs376914323 | F>L | B:211 | (13.74, -1.34, 8.32) |
| 11:114183056 | rs144304317 | R>W | B:218 | (-8.62, -10.82, 12.75) |
| 11:114183057 | rs374692669 | R>Q | B:218 | (-8.62, -10.82, 12.75) |
| 11:114183063 | rs548099314 | A>V | B:220 | (-6.16, -5.07, 16.74) |
| 11:114183068 | rs201804258 COSM466347 |
E>K | B:222 | (-10.82, -5.84, 13.08) |
| 11:114183084 | E>G | B:227 | (-11.52, 2.75, 17.63) | |
| 11:114183086 | A>T | B:228 | (-11.24, 5.22, 13.12) | |
| 11:114183087 | rs567700301 | A>V | B:228 | (-11.24, 5.22, 13.12) |
| 11:114183092 | Y>H | B:230 | (-12.95, 3.68, 8.93) | |
| 11:114183109 | F>L | B:235 | (-10.30, -8.72, 7.78) | |
| 11:114183110 | E>Q | B:236 | (-8.38, -12.13, 3.59) | |
| 11:114183113 | V>M | B:237 | (-6.53, -13.98, 7.24) | |
| 11:114183120 | rs141240468 | S>L | B:239 | (-0.98, -18.19, 6.59) |
| 11:114183144 | A>V | B:247 | (10.24, -11.65, 7.93) | |
| 11:114183152 | rs556654096 COSM3443649 |
E>K | B:250 | (2.09, -15.21, 12.06) |
| 11:114183165 | rs145609823 | S>C | B:254 | (-6.82, -7.82, 3.44) |
| 11:114183174 | rs576476423 | A>V | B:257 | (-13.54, -0.11, 4.43) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:114168780 | COSM3375654 | D>N | B:88 | (12.01, 12.31, -0.60) |
| 11:114183101 | COSM168219 | E>K | B:233 | (-17.56, -3.85, 3.51) |
| 11:114183152 | COSM3443649 | E>K | B:250 | (2.09, -15.21, 12.06) |