General Structure Information
| PDB ID | 4ig8 |
| HGNC Gene Label(s) | OAS1 |
| Structure Name | structural basis for cytosolic double-stranded rna surveillance by human oas1 |
| Resolution | 2.7Å |
| Reference | AUTH J.DONOVAN,M.DUFNER,A.KORENNYKHTITL STRUCTURAL BASIS FOR CYTOSOLIC DOUBLE-STRANDED RNATITL 2 SURVEILLANCE BY HUMAN OLIGOADENYLATE SYNTHETASE 1.REF PROC.NATL.ACAD.SCI.USA V. 110 1652 2013REFN ISSN 0027-8424PMID 23319625DOI 10.1073/PNAS.1218528110 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 338 |
| Number Of SNVs | 102 |
| Number Of Permutations | 52718 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.014 |
| p-value | 0.544 |
COSMIC
| Number Of Residues | 338 |
| Number Of SNVs | 5 |
| Number Of Permutations | 713 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.1 |
| p-value | 0.715 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 102 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.153 |
| p-value | 0.781 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:113344858 | rs147205471 | R>K | A:5 | (26.76, -21.49, 20.96) |
| 12:113344866 | COSM3456290 COSM3456291 COSM3456292 |
P>S | A:8 | (16.49, -24.61, 22.34) |
| 12:113344869 | A>T | A:9 | (14.56, -22.95, 18.73) | |
| 12:113344897 | rs373546690 | D>G | A:18 | (14.51, -14.32, 30.82) |
| 12:113344902 | rs377027609 COSM3416504 COSM3416505 COSM3416506 |
L>F | A:20 | (17.18, -9.78, 26.06) |
| 12:113344914 | T>P | A:24 | (10.29, -2.54, 35.68) | |
| 12:113344915 | T>M | A:24 | (10.29, -2.54, 35.68) | |
| 12:113344920 | rs377053595 | F>L | A:26 | (16.74, -1.09, 32.38) |
| 12:113344923 | rs117835961 | R>C | A:27 | (10.41, 0.79, 32.53) |
| 12:113344927 | M>T | A:28 | (12.12, 2.81, 36.81) | |
| 12:113344938 | H>Y | A:32 | (16.14, 8.92, 37.24) | |
| 12:113344940 | rs371488150 | H>Q | A:32 | (16.14, 8.92, 37.24) |
| 12:113344956 | C>R | A:38 | (17.16, 16.35, 30.15) | |
| 12:113344965 | L>V | A:41 | (21.12, 19.70, 29.07) | |
| 12:113344968 | rs374296254 | K>Q | A:42 | (16.32, 21.71, 29.83) |
| 12:113344975 | R>K | A:44 | (23.64, 24.49, 36.17) | |
| 12:113344978 | C>Y | A:45 | (24.39, 23.71, 30.93) | |
| 12:113344984 | R>Q | A:47 | (19.81, 29.24, 32.26) | |
| 12:113344987 | G>V | A:48 | (25.61, 31.75, 31.49) | |
| 12:113345007 | rs138921278 | V>M | A:55 | (18.06, 23.58, 24.29) |
| 12:113345014 | K>M | A:57 | (15.05, 19.34, 20.12) | |
| 12:113345019 | rs541677821 | V>I | A:59 | (16.33, 13.60, 20.77) |
| 12:113346345 | G>V | A:62 | (18.53, 4.68, 20.00) | |
| 12:113346347 | rs539664728 | S>P | A:63 | (18.09, 1.61, 21.97) |
| 12:113346348 | COSM3870762 COSM3870763 COSM3870764 |
S>F | A:63 | (18.09, 1.61, 21.97) |
| 12:113346366 | rs142847241 | T>I | A:69 | (16.56, -1.98, 25.04) |
| 12:113346369 | L>R | A:70 | (19.75, -5.25, 25.33) | |
| 12:113346373 | R>S | A:71 | (17.40, -7.10, 31.16) | |
| 12:113346374 | rs557670185 | G>S | A:72 | (21.93, -3.85, 31.16) |
| 12:113346384 | rs148499944 | D>A | A:75 | (23.79, 3.32, 25.89) |
| 12:113346396 | V>A | A:79 | (20.40, 14.34, 20.49) | |
| 12:113346405 | L>P | A:82 | (22.36, 23.43, 20.23) | |
| 12:113346431 | rs150636851 | Q>E | A:91 | (27.17, 19.59, 13.67) |
| 12:113346437 | N>H | A:93 | (33.44, 23.37, 12.75) | |
| 12:113346440 | COSM1706303 COSM1706304 COSM1706305 |
R>G | A:94 | (30.67, 25.67, 17.27) |
| 12:113346443 | rs201869673 | R>W | A:95 | (31.37, 18.01, 16.88) |
| 12:113346444 | R>Q | A:95 | (31.37, 18.01, 16.88) | |
| 12:113346455 | I>F | A:99 | (31.67, 18.01, 23.98) | |
| 12:113346470 | rs139804868 | R>G | A:104 | (32.61, 24.15, 32.56) |
| 12:113346471 | R>K | A:104 | (32.61, 24.15, 32.56) | |
| 12:113346475 | Q>H | A:105 | (28.71, 22.82, 33.47) | |
| 12:113346482 | A>S | A:108 | (30.25, 21.22, 38.64) | |
| 12:113346500 | rs377100213 | A>T | A:114 | (23.95, 16.07, 42.37) |
| 12:113346509 | rs200127558 | V>M | A:117 | (30.49, 11.83, 36.25) |
| 12:113346510 | V>A | A:117 | (30.49, 11.83, 36.25) | |
| 12:113346516 | F>Y | A:119 | (34.03, 11.69, 32.13) | |
| 12:113346517 | F>L | A:119 | (34.03, 11.69, 32.13) | |
| 12:113346545 | P>S | A:129 | (34.89, 14.50, 19.10) | |
| 12:113346546 | rs146859513 | P>R | A:129 | (34.89, 14.50, 19.10) |
| 12:113346548 | R>C | A:130 | (30.67, 11.72, 16.26) | |
| 12:113346552 | A>V | A:131 | (30.56, 12.32, 21.70) | |
| 12:113346563 | rs111902215 | V>I | A:135 | (28.92, 6.54, 33.82) |
| 12:113346570 | S>T | A:137 | (26.02, 8.04, 39.40) | |
| 12:113346573 | COSM231294 COSM231296 COSM231295 |
S>L | A:138 | (22.40, 8.89, 41.50) |
| 12:113346575 | rs142314177 | L>F | A:139 | (20.96, 8.92, 45.17) |
| 12:113346588 | rs200753414 | E>G | A:143 | (24.10, 0.85, 38.86) |
| 12:113346589 | rs200307293 | E>D | A:143 | (24.10, 0.85, 38.86) |
| 12:113346590 | G>W | A:144 | (24.84, 3.10, 36.35) | |
| 12:113346602 | D>Y | A:148 | (26.34, 8.57, 24.24) | |
| 12:113346621 | D>G | A:154 | (17.13, 21.35, 14.00) | |
| 12:113348870 | rs1131454 | G>S | A:162 | (3.05, 11.89, 7.63) |
| 12:113348886 | P>L | A:167 | (13.42, 17.66, -0.32) | |
| 12:113348890 | rs372713490 | Q>H | A:168 | (15.67, 21.36, -0.76) |
| 12:113348893 | I>M | A:169 | (16.65, 19.22, 4.27) | |
| 12:113348909 | rs148820389 | E>K | A:175 | (25.05, 20.12, -1.98) |
| 12:113348915 | C>G | A:177 | (28.46, 15.56, 2.44) | |
| 12:113348935 | rs150957093 | E>D | A:183 | (29.82, 10.92, 2.83) |
| 12:113348936 | G>C | A:184 | (27.15, 10.19, 7.35) | |
| 12:113348948 | T>A | A:188 | (22.77, 13.01, 14.66) | |
| 12:113348957 | T>A | A:191 | (17.65, 10.77, 15.51) | |
| 12:113348982 | rs373323762 | K>M | A:199 | (9.22, 4.14, 18.48) |
| 12:113348987 | COSM385540 COSM385541 COSM385542 |
R>C | A:201 | (8.23, -1.28, 12.59) |
| 12:113349014 | R>C | A:210 | (15.35, -6.69, 21.91) | |
| 12:113349015 | R>H | A:210 | (15.35, -6.69, 21.91) | |
| 12:113354323 | rs373706633 | K>Q | A:222 | (35.06, -14.29, 19.05) |
| 12:113354341 | rs145877568 | P>S | A:228 | (27.73, -1.28, 11.99) |
| 12:113354344 | rs557948067 | Q>K | A:229 | (24.31, -2.85, 16.52) |
| 12:113354345 | Q>R | A:229 | (24.31, -2.85, 16.52) | |
| 12:113354346 | Q>H | A:229 | (24.31, -2.85, 16.52) | |
| 12:113354347 | Y>N | A:230 | (21.30, 1.33, 12.05) | |
| 12:113354369 | V>A | A:237 | (13.64, -4.48, 9.08) | |
| 12:113354374 | A>T | A:239 | (13.91, -9.87, 6.87) | |
| 12:113354380 | rs573074776 | E>K | A:241 | (9.79, -5.41, 5.42) |
| 12:113354384 | rs56006713 | R>Q | A:242 | (11.43, -7.75, 1.31) |
| 12:113354392 | M>V | A:245 | (4.72, -8.10, 6.80) | |
| 12:113354405 | F>S | A:249 | (7.78, -13.64, 13.94) | |
| 12:113354419 | rs541940421 | G>R | A:254 | (14.61, -14.90, 11.44) |
| 12:113354425 | R>W | A:256 | (18.60, -20.30, 9.67) | |
| 12:113354426 | rs528923373 | R>Q | A:256 | (18.60, -20.30, 9.67) |
| 12:113354429 | COSM935311 COSM935312 COSM935313 |
T>M | A:257 | (16.75, -14.96, 7.65) |
| 12:113354438 | E>G | A:260 | (20.99, -16.98, 5.49) | |
| 12:113354465 | rs138105298 | C>Y | A:269 | (20.84, -3.64, -2.30) |
| 12:113354471 | COSM4038902 COSM4038903 COSM4038904 |
Y>F | A:271 | (16.12, 1.12, -1.46) |
| 12:113354486 | rs149556785 | Y>C | A:276 | (15.35, 8.69, 1.35) |
| 12:113354488 | D>N | A:277 | (11.87, 10.22, -2.94) | |
| 12:113354494 | rs372813548 | K>E | A:279 | (9.55, 12.50, -6.41) |
| 12:113354513 | K>R | A:285 | (21.99, 12.12, -10.03) | |
| 12:113354515 | rs376237127 | Y>H | A:286 | (23.91, 10.65, -3.55) |
| 12:113354534 | T>M | A:292 | (26.28, 1.59, -8.01) | |
| 12:113354542 | rs533280932 | R>G | A:295 | (26.84, -4.78, -3.61) |
| 12:113355357 | rs148741042 | V>G | A:297 | (24.45, -1.23, -0.05) |
| 12:113355369 | rs201971047 | P>L | A:301 | (16.49, 5.09, 6.56) |
| 12:113355371 | A>S | A:302 | (17.43, 9.02, 7.67) | |
| 12:113355372 | rs373282263 | A>V | A:302 | (17.43, 9.02, 7.67) |
| 12:113355374 | D>H | A:303 | (21.28, 9.68, 5.88) | |
| 12:113355378 | rs527538398 | P>R | A:304 | (20.87, 9.50, 2.08) |
| 12:113355380 | T>A | A:305 | (24.71, 9.99, 3.05) | |
| 12:113355381 | T>I | A:305 | (24.71, 9.99, 3.05) | |
| 12:113355386 | N>D | A:307 | (26.80, 3.00, 3.30) | |
| 12:113355393 | rs527675104 | G>D | A:309 | (28.65, -1.57, 5.06) |
| 12:113355395 | G>S | A:310 | (31.11, 0.25, 3.64) | |
| 12:113355420 | rs529407076 | Q>R | A:318 | (35.67, -11.61, 10.35) |
| 12:113355426 | rs370539671 COSM935314 COSM935315 COSM935316 |
A>V | A:320 | (30.03, -14.50, 7.67) |
| 12:113355441 | rs374610472 | A>D | A:325 | (28.97, -21.48, 12.24) |
| 12:113355447 | rs145483625 | L>P | A:327 | (23.83, -22.11, 10.47) |
| 12:113355480 | S>F | A:338 | (15.13, -30.46, 11.82) | |
| 12:113355492 | S>F | A:342 | (14.71, -19.48, 6.02) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:113346573 | COSM231296 | S>L | A:138 | (22.40, 8.89, 41.50) |
| 12:113348870 | COSM4146652 | G>S | A:162 | (3.05, 11.89, 7.63) |
| 12:113348909 | COSM1358915 | E>K | A:175 | (25.05, 20.12, -1.98) |
| 12:113348912 | COSM217001 | E>K | A:176 | (27.41, 20.61, 2.71) |
| 12:113354443 | COSM1358920 | V>L | A:262 | (25.36, -11.74, 6.97) |
| 12:113354444 | COSM1358923 | V>A | A:262 | (25.36, -11.74, 6.97) |