General Structure Information
| PDB ID | 1sd1 |
| HGNC Gene Label(s) | MTAP |
| Structure Name | structure of human 5-deoxy-5-methylthioadenosine phosphorylase complexed with formycin a |
| Resolution | 2.03Å |
| Reference | AUTH J.E.LEE,E.C.SETTEMBRE,K.A.CORNELL,M.K.RISCOE,J.R.SUFRIN,AUTH 2 S.E.EALICK,P.L.HOWELLTITL STRUCTURAL COMPARISON OF MTA PHOSPHORYLASE AND MTA/ADOHCYTITL 2 NUCLEOSIDASE EXPLAINS SUBSTRATE PREFERENCES AND IDENTIFIESTITL 3 REGIONS EXPLOITABLE FOR INHIBITOR DESIGN.REF BIOCHEMISTRY V. 43 5159 2004REFN ISSN 0006-2960PMID 15122881DOI 10.1021/BI035492H |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 268 |
| Number Of SNVs | 91 |
| Number Of Permutations | 26816 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.126 |
| p-value | 0.525 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 9:21802775 | V>M | A:10 | (90.00, 13.05, 33.86) | |
| 9:21815441 | I>V | A:15 | (73.76, 14.88, 35.13) | |
| 9:21815444 | rs368005706 | G>S | A:16 | (70.68, 12.03, 34.92) |
| 9:21815448 | rs543320391 | G>E | A:17 | (67.74, 11.62, 33.54) |
| 9:21815460 | D>V | A:21 | (69.34, 7.62, 36.29) | |
| 9:21815507 | rs373606947 | P>A | A:37 | (77.21, 26.87, 49.05) |
| 9:21815514 | G>V | A:39 | (72.75, 23.41, 48.75) | |
| 9:21815516 | K>Q | A:40 | (71.07, 19.59, 50.12) | |
| 9:21815517 | K>M | A:40 | (71.07, 19.59, 50.12) | |
| 9:21816728 | I>L | A:46 | (77.08, 7.58, 42.84) | |
| 9:21816738 | K>R | A:49 | (86.19, 3.57, 38.35) | |
| 9:21816749 | V>F | A:53 | (87.68, 6.79, 34.15) | |
| 9:21816758 | rs7023954 | V>I | A:56 | (80.49, 11.52, 39.66) |
| 9:21818036 | H>R | A:61 | (64.75, 15.14, 38.03) | |
| 9:21818044 | Q>K | A:64 | (62.34, 8.40, 44.33) | |
| 9:21818049 | H>Q | A:65 | (61.39, 12.04, 38.74) | |
| 9:21818054 | rs143281052 | I>N | A:67 | (62.85, 17.22, 41.55) |
| 9:21818066 | K>R | A:71 | (61.53, 23.51, 41.91) | |
| 9:21818068 | V>F | A:72 | (66.40, 21.35, 39.72) | |
| 9:21818078 | Q>R | A:75 | (73.12, 26.82, 41.81) | |
| 9:21818081 | A>V | A:76 | (74.23, 22.30, 43.68) | |
| 9:21818086 | I>F | A:78 | (77.28, 22.06, 38.69) | |
| 9:21818093 | A>G | A:80 | (79.18, 19.14, 43.65) | |
| 9:21818102 | E>A | A:83 | (84.25, 20.57, 45.57) | |
| 9:21818107 | G>R | A:85 | (86.76, 17.07, 40.45) | |
| 9:21818113 | T>A | A:87 | (87.11, 17.69, 34.37) | |
| 9:21818117 | H>R | A:88 | (85.05, 16.41, 31.64) | |
| 9:21818125 | V>L | A:91 | (74.25, 15.17, 30.40) | |
| 9:21818129 | T>I | A:92 | (71.21, 12.37, 30.01) | |
| 9:21818132 | T>I | A:93 | (68.03, 14.86, 27.94) | |
| 9:21818144 | rs200687016 | S>Y | A:97 | (61.44, 16.59, 17.61) |
| 9:21818167 | rs540813749 | G>S | A:105 | (65.77, 7.56, 19.32) |
| 9:21818183 | I>T | A:110 | (73.08, 19.65, 21.92) | |
| 9:21818185 | D>H | A:111 | (75.48, 23.11, 19.16) | |
| 9:21818200 | R>G | A:116 | (60.60, 30.46, 26.37) | |
| 9:21837911 | T>S | A:118 | (61.25, 32.32, 33.76) | |
| 9:21837914 | M>V | A:119 | (61.16, 30.65, 37.63) | |
| 9:21837927 | COSM753754 | S>C | A:123 | (74.85, 32.54, 38.51) |
| 9:21837931 | F>L | A:124 | (77.52, 29.49, 40.72) | |
| 9:21837933 | Y>S | A:125 | (79.77, 34.51, 40.52) | |
| 9:21837950 | C>R | A:131 | (82.21, 31.04, 46.86) | |
| 9:21837951 | rs371627007 | C>F | A:131 | (82.21, 31.04, 46.86) |
| 9:21837958 | rs201264519 | R>S | A:133 | (83.86, 37.26, 46.08) |
| 9:21837962 | V>M | A:135 | (79.45, 40.40, 38.46) | |
| 9:21837973 | I>M | A:138 | (79.60, 33.42, 31.15) | |
| 9:21837977 | M>V | A:140 | (77.14, 31.10, 26.36) | |
| 9:21837981 | A>V | A:141 | (78.91, 31.24, 21.91) | |
| 9:21837987 | P>L | A:143 | (77.51, 26.58, 24.91) | |
| 9:21838002 | rs368718537 | T>M | A:148 | (83.29, 16.30, 24.58) |
| 9:21854637 | I>T | A:153 | (79.84, 12.59, 17.20) | |
| 9:21854641 | E>D | A:154 | (83.53, 8.80, 16.13) | |
| 9:21854649 | K>R | A:157 | (80.60, 6.52, 13.23) | |
| 9:21854663 | rs541314246 | R>W | A:162 | (69.41, 7.35, 13.65) |
| 9:21854664 | rs143597255 | R>Q | A:162 | (69.41, 7.35, 13.65) |
| 9:21854684 | rs529690040 | M>V | A:169 | (67.73, 22.32, 23.21) |
| 9:21854705 | rs569692278 | R>C | A:176 | (53.54, 24.41, 29.83) |
| 9:21854715 | S>Y | A:179 | (51.55, 25.17, 22.53) | |
| 9:21854729 | rs148068697 | F>V | A:184 | (53.88, 25.40, 14.70) |
| 9:21854735 | F>I | A:186 | (59.65, 27.19, 19.95) | |
| 9:21854738 | R>C | A:187 | (59.68, 24.24, 13.32) | |
| 9:21854739 | rs147028761 | R>H | A:187 | (59.68, 24.24, 13.32) |
| 9:21854748 | rs143891667 | G>E | A:190 | (65.67, 27.08, 15.03) |
| 9:21854751 | rs200708704 COSM1461796 |
A>V | A:191 | (64.63, 24.92, 17.03) |
| 9:21854759 | rs150641573 | I>V | A:194 | (61.87, 20.83, 23.28) |
| 9:21854769 | rs138887943 | T>S | A:197 | (66.84, 20.60, 31.92) |
| 9:21854774 | V>I | A:199 | (68.75, 26.26, 30.67) | |
| 9:21854786 | V>L | A:203 | (75.29, 28.42, 32.16) | |
| 9:21854808 | rs375453271 | I>S | A:210 | (83.08, 22.09, 33.80) |
| 9:21854809 | I>M | A:210 | (83.08, 22.09, 33.80) | |
| 9:21854811 | C>S | A:211 | (83.92, 20.21, 30.01) | |
| 9:21854816 | rs369819046 | A>T | A:213 | (78.00, 17.59, 27.28) |
| 9:21854819 | rs577238120 | S>G | A:214 | (74.22, 16.86, 25.88) |
| 9:21854825 | rs202130608 | A>T | A:216 | (69.89, 14.15, 23.33) |
| 9:21854826 | A>G | A:216 | (69.89, 14.15, 23.33) | |
| 9:21854828 | M>V | A:217 | (67.07, 10.50, 23.35) | |
| 9:21854832 | rs143080527 | A>V | A:218 | (64.38, 11.73, 21.03) |
| 9:21854840 | rs138566956 | Y>D | A:221 | (58.27, 13.99, 16.06) |
| 9:21859308 | V>L | A:233 | (54.28, 11.42, 30.34) | |
| 9:21859314 | R>W | A:235 | (55.60, 7.73, 23.65) | |
| 9:21859317 | rs139815499 | V>I | A:236 | (58.41, 10.29, 27.11) |
| 9:21859341 | A>T | A:244 | (68.32, 3.70, 27.49) | |
| 9:21859359 | L>I | A:250 | (77.53, 6.79, 24.05) | |
| 9:21859366 | L>P | A:252 | (80.14, 2.70, 29.01) | |
| 9:21859368 | T>A | A:253 | (82.38, 3.69, 24.67) | |
| 9:21859369 | T>N | A:253 | (82.38, 3.69, 24.67) | |
| 9:21859372 | T>S | A:254 | (82.83, 8.10, 25.30) | |
| 9:21859381 | Q>R | A:257 | (88.70, 7.87, 23.92) | |
| 9:21859383 | rs181734039 | I>V | A:258 | (87.51, 11.44, 27.47) |
| 9:21859389 | S>P | A:260 | (92.91, 8.65, 26.20) | |
| 9:21859399 | rs373274501 | W>L | A:263 | (90.53, 16.87, 27.56) |
| 9:21931010 | I>L | A:273 | (86.27, 32.06, 29.38) | |
| 9:21931015 | K>N | A:274 | (85.68, 32.08, 33.89) | |
| 9:21931016 | rs370690251 | F>L | A:275 | (89.59, 34.10, 36.10) |
| 9:21931020 | rs73652803 | Q>R | A:276 | (89.84, 36.44, 32.67) |
| 9:21931024 | M>I | A:277 | (83.88, 36.60, 33.24) | |
| 9:21931025 | I>V | A:278 | (84.51, 37.86, 37.27) | |
| 9:21931026 | rs371711818 | I>T | A:278 | (84.51, 37.86, 37.27) |
| 9:21931032 | rs138849306 | S>T | A:280 | (86.12, 41.88, 41.33) |
| 9:21931034 | E>K | A:281 | (84.73, 44.74, 43.74) |