General Structure Information
| PDB ID | 3lpo |
| HGNC Gene Label(s) | SI |
| Structure Name | crystal structure of the n-terminal domain of sucrase-isomaltase |
| Resolution | 3.2Å |
| Reference | AUTH L.SIM,C.WILLEMSMA,S.MOHAN,H.Y.NAIM,B.M.PINTO,D.R.ROSETITL STRUCTURAL BASIS FOR SUBSTRATE SELECTIVITY IN HUMANTITL 2 MALTASE-GLUCOAMYLASE AND SUCRASE-ISOMALTASE N-TERMINALTITL 3 DOMAINS.REF J.BIOL.CHEM. V. 285 17763 2010REFN ISSN 0021-9258PMID 20356844DOI 10.1074/JBC.M109.078980 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 870 |
| Number Of SNVs | 247 |
| Number Of Permutations | 84027 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.015 |
| p-value | 0.125 |
ClinVar
| Number Of Residues | 870 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1117 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.0 |
| p-value | 0.602 |
COSMIC
| Number Of Residues | 870 |
| Number Of SNVs | 21 |
| Number Of Permutations | 26334 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.133 |
| p-value | 0.775 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 247 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.133 |
| p-value | 0.641 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 247 |
| Number Of COSMIC SNVs | 22 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.007 |
| p-value | 0.966 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:164792356 | rs377234225 | V>E | A:40 | (-34.69, -15.56, -5.00) |
| 3:164792350 | I>T | A:42 | (-29.35, -18.93, -3.53) | |
| 3:164792326 | P>L | A:50 | (-17.35, -12.51, -5.08) | |
| 3:164792327 | rs373958950 | P>T | A:50 | (-17.35, -12.51, -5.08) |
| 3:164792324 | T>A | A:51 | (-14.75, -13.98, -8.49) | |
| 3:164786971 | Q>K | A:57 | (-14.54, -23.06, -11.37) | |
| 3:164786958 | C>Y | A:61 | (-24.98, -16.70, -12.42) | |
| 3:164786949 | P>L | A:64 | (-22.80, -8.05, -10.71) | |
| 3:164786950 | P>T | A:64 | (-22.80, -8.05, -10.71) | |
| 3:164786940 | D>G | A:67 | (-25.16, -4.17, -2.71) | |
| 3:164786937 | S>C | A:68 | (-22.21, -6.53, -0.74) | |
| 3:164786924 | rs138564183 | W>C | A:72 | (-21.48, -9.43, -6.73) |
| 3:164786917 | rs146006371 | F>V | A:75 | (-26.65, -21.82, -6.81) |
| 3:164786907 | N>S | A:78 | (-27.32, -24.37, -12.50) | |
| 3:164786905 | H>N | A:79 | (-25.76, -26.79, -8.96) | |
| 3:164786902 | G>R | A:80 | (-28.92, -30.66, -8.08) | |
| 3:164786884 | M>L | A:86 | (-41.31, -41.71, -5.94) | |
| 3:164786874 | rs529409680 | T>K | A:89 | (-44.01, -46.32, 2.60) |
| 3:164786875 | rs376103595 | T>A | A:89 | (-44.01, -46.32, 2.60) |
| 3:164786608 | K>E | A:96 | (-34.03, -42.39, -5.58) | |
| 3:164786586 | COSM1536810 | P>R | A:103 | (-19.73, -28.17, -11.48) |
| 3:164786581 | L>V | A:105 | (-19.10, -26.39, -4.69) | |
| 3:164786576 | F>L | A:106 | (-16.75, -26.93, -1.21) | |
| 3:164786571 | N>S | A:108 | (-15.94, -35.45, -2.22) | |
| 3:164786562 | rs138092600 | N>S | A:111 | (-23.49, -38.89, -7.48) |
| 3:164786545 | T>A | A:117 | (-40.96, -39.36, 4.30) | |
| 3:164786533 | rs150373520 | T>A | A:121 | (-47.54, -36.93, 14.38) |
| 3:164786526 | N>S | A:123 | (-48.95, -32.00, 14.62) | |
| 3:164786523 | COSM1040792 | R>H | A:124 | (-43.79, -35.14, 14.82) |
| 3:164786517 | R>Q | A:126 | (-38.05, -37.64, 10.10) | |
| 3:164786518 | rs201105530 COSM729341 COSM3589609 |
R>W | A:126 | (-38.05, -37.64, 10.10) |
| 3:164785279 | I>F | A:129 | (-31.34, -36.50, 2.69) | |
| 3:164785266 | N>S | A:133 | (-23.84, -46.64, -1.00) | |
| 3:164785256 | rs377165751 | R>S | A:136 | (-22.86, -39.69, 6.07) |
| 3:164785254 | rs372997059 | Y>C | A:137 | (-22.87, -38.49, 12.60) |
| 3:164785236 | Y>C | A:143 | (-36.53, -38.71, 24.32) | |
| 3:164785210 | V>F | A:152 | (-50.82, -41.54, 10.39) | |
| 3:164785203 | D>G | A:154 | (-55.28, -37.38, 9.32) | |
| 3:164785194 | rs369758547 | Y>C | A:157 | (-48.53, -33.16, 7.82) |
| 3:164785195 | Y>H | A:157 | (-48.53, -33.16, 7.82) | |
| 3:164785188 | rs549019064 | V>A | A:159 | (-45.85, -33.71, 1.41) |
| 3:164785170 | rs142923909 | P>L | A:165 | (-35.79, -29.89, -9.81) |
| 3:164785164 | COSM1536813 | S>N | A:167 | (-38.45, -30.12, -4.29) |
| 3:164785165 | rs113903766 | S>G | A:167 | (-38.45, -30.12, -4.29) |
| 3:164785152 | rs377040463 | I>T | A:171 | (-48.80, -27.69, 2.39) |
| 3:164785153 | rs566771130 | I>V | A:171 | (-48.80, -27.69, 2.39) |
| 3:164785146 | COSM1420379 | K>R | A:173 | (-54.48, -30.04, 4.84) |
| 3:164785143 | S>N | A:174 | (-56.49, -25.82, 6.75) | |
| 3:164785131 | COSM72641 | T>I | A:178 | (-46.78, -23.04, 1.49) |
| 3:164783209 | S>N | A:183 | (-38.14, -24.83, -4.89) | |
| 3:164783207 | I>V | A:184 | (-35.93, -21.33, -3.92) | |
| 3:164783197 | COSM1161449 | L>S | A:187 | (-29.73, -30.75, -2.58) |
| 3:164783171 | rs199559251 | I>F | A:196 | (-31.35, -27.30, 2.10) |
| 3:164783164 | rs79468450 | T>S | A:198 | (-36.34, -22.48, 2.69) |
| 3:164783165 | rs9283633 | T>A | A:198 | (-36.34, -22.48, 2.69) |
| 3:164783161 | R>H | A:199 | (-40.24, -19.76, -0.40) | |
| 3:164783149 | D>V | A:203 | (-41.32, -11.66, 7.38) | |
| 3:164783147 | Y>H | A:204 | (-42.68, -11.71, 11.61) | |
| 3:164783144 | I>V | A:205 | (-38.02, -15.95, 12.05) | |
| 3:164783141 | Y>H | A:206 | (-39.62, -15.59, 16.40) | |
| 3:164783137 | G>D | A:207 | (-34.18, -18.37, 17.10) | |
| 3:164783129 | COSM1040789 | E>K | A:210 | (-25.82, -19.87, 22.52) |
| 3:164783116 | K>R | A:214 | (-29.05, -7.53, 19.66) | |
| 3:164783110 | F>S | A:216 | (-37.38, -13.10, 20.20) | |
| 3:164783107 | rs530009542 COSM126163 |
R>H | A:217 | (-38.46, -9.83, 14.05) |
| 3:164783108 | rs200745562 COSM116707 |
R>C | A:217 | (-38.46, -9.83, 14.05) |
| 3:164783104 | H>L | A:218 | (-34.23, -13.37, 13.57) | |
| 3:164783092 | W>L | A:222 | (-29.13, -10.65, 2.44) | |
| 3:164783076 | COSM1265567 | I>M | A:227 | (-24.36, -23.36, 14.90) |
| 3:164783068 | rs143135955 | R>Q | A:230 | (-15.84, -21.09, 20.96) |
| 3:164781323 | N>D | A:239 | (-19.45, -14.97, 17.71) | |
| 3:164781307 | H>R | A:244 | (-25.69, -26.94, 18.41) | |
| 3:164781297 | F>L | A:247 | (-36.44, -24.69, 17.24) | |
| 3:164781284 | E>K | A:252 | (-48.46, -18.95, 9.70) | |
| 3:164781280 | D>G | A:253 | (-51.61, -16.00, 10.75) | |
| 3:164781260 | G>S | A:260 | (-41.29, -25.51, 12.97) | |
| 3:164781256 | V>G | A:261 | (-37.72, -25.88, 11.53) | |
| 3:164781246 | M>I | A:264 | (-31.01, -33.91, 14.41) | |
| 3:164781241 | rs367672931 | S>N | A:266 | (-23.69, -32.15, 15.50) |
| 3:164781238 | N>I | A:267 | (-21.76, -31.26, 12.22) | |
| 3:164780262 | rs369903847 | I>S | A:273 | (-31.62, -15.33, 7.46) |
| 3:164780263 | I>F | A:273 | (-31.62, -15.33, 7.46) | |
| 3:164780253 | T>N | A:276 | (-38.60, -13.72, 1.10) | |
| 3:164780248 | rs148454534 | I>V | A:278 | (-34.72, -17.53, 2.71) |
| 3:164780229 | T>I | A:284 | (-19.51, -29.43, 7.91) | |
| 3:164780230 | rs370532837 | T>P | A:284 | (-19.51, -29.43, 7.91) |
| 3:164780227 | G>S | A:285 | (-21.85, -32.78, 7.94) | |
| 3:164780217 | L>P | A:288 | (-29.96, -33.27, 5.72) | |
| 3:164780214 | D>V | A:289 | (-32.80, -35.13, 10.24) | |
| 3:164780197 | G>R | A:295 | (-49.58, -25.13, 15.18) | |
| 3:164780193 | D>V | A:296 | (-53.25, -24.07, 16.47) | |
| 3:164780188 | rs201980143 | P>S | A:298 | (-47.08, -19.98, 19.29) |
| 3:164780173 | COSM582388 | Q>K | A:303 | (-46.31, -27.80, 23.61) |
| 3:164780169 | Q>R | A:304 | (-45.35, -30.60, 19.12) | |
| 3:164777812 | COSM98110 | V>F | A:309 | (-36.36, -33.38, 21.98) |
| 3:164777806 | L>V | A:311 | (-40.59, -33.01, 28.29) | |
| 3:164777793 | rs77546399 | P>L | A:315 | (-37.49, -28.19, 39.19) |
| 3:164777791 | COSM582389 | A>T | A:316 | (-36.14, -28.24, 42.86) |
| 3:164777779 | rs539049352 | L>I | A:320 | (-36.80, -21.66, 42.04) |
| 3:164777730 | K>R | A:336 | (-17.62, -17.46, 56.56) | |
| 3:164777728 | E>Q | A:337 | (-18.64, -12.30, 55.13) | |
| 3:164777725 | rs138434001 | V>M | A:338 | (-20.71, -12.57, 51.81) |
| 3:164777709 | R>Q | A:343 | (-27.47, -15.09, 56.77) | |
| 3:164777710 | COSM3733321 | R>W | A:343 | (-27.47, -15.09, 56.77) |
| 3:164777707 | COSM582392 | E>K | A:344 | (-27.27, -8.31, 58.86) |
| 3:164777700 | G>D | A:346 | (-32.75, -9.78, 54.46) | |
| 3:164777694 | rs528535943 | P>L | A:348 | (-34.03, -13.29, 50.02) |
| 3:164777078 | rs374970347 | V>L | A:353 | (-21.87, -20.64, 45.12) |
| 3:164777071 | D>G | A:355 | (-15.88, -20.88, 41.37) | |
| 3:164777072 | D>Y | A:355 | (-15.88, -20.88, 41.37) | |
| 3:164777067 | I>M | A:356 | (-12.21, -22.68, 40.53) | |
| 3:164777060 | M>V | A:359 | (-10.94, -26.46, 43.74) | |
| 3:164777032 | D>V | A:368 | (-7.54, -25.10, 49.75) | |
| 3:164777027 | V>I | A:370 | (-4.99, -23.68, 53.51) | |
| 3:164777024 | rs368467472 | A>T | A:371 | (-7.90, -21.05, 52.38) |
| 3:164777015 | rs559599846 COSM1040784 |
G>R | A:374 | (-13.72, -25.50, 57.22) |
| 3:164776997 | Q>K | A:380 | (-23.57, -28.21, 59.03) | |
| 3:164776988 | H>Y | A:383 | (-27.10, -27.66, 55.35) | |
| 3:164776978 | G>E | A:386 | (-31.65, -23.83, 55.07) | |
| 3:164776970 | rs148511215 | Y>D | A:389 | (-22.03, -25.77, 48.80) |
| 3:164776864 | rs556583179 | A>T | A:396 | (-10.83, -31.39, 33.20) |
| 3:164776854 | I>T | A:399 | (-1.58, -34.91, 34.32) | |
| 3:164776855 | rs112053533 | I>V | A:399 | (-1.58, -34.91, 34.32) |
| 3:164776848 | COSM1040781 | R>Q | A:401 | (1.38, -36.35, 42.26) |
| 3:164776846 | rs370325800 | R>C | A:402 | (-3.67, -33.89, 45.81) |
| 3:164776839 | N>S | A:404 | (1.62, -33.47, 49.40) | |
| 3:164776830 | T>I | A:407 | (-1.62, -40.07, 43.94) | |
| 3:164776821 | T>N | A:410 | (-9.53, -38.60, 40.21) | |
| 3:164776816 | rs574226526 | E>K | A:412 | (-5.81, -42.91, 38.85) |
| 3:164776812 | rs554208715 | R>K | A:413 | (-9.99, -43.41, 40.89) |
| 3:164776810 | G>R | A:414 | (-9.18, -43.20, 35.13) | |
| 3:164776801 | Q>K | A:417 | (-12.20, -47.31, 34.91) | |
| 3:164776780 | S>T | A:424 | (-6.18, -40.49, 15.93) | |
| 3:164776777 | rs535241759 | D>N | A:425 | (-4.20, -43.43, 18.01) |
| 3:164776773 | COSM3915259 | G>E | A:426 | (-6.98, -44.92, 20.05) |
| 3:164776774 | G>R | A:426 | (-6.98, -44.92, 20.05) | |
| 3:164776770 | S>N | A:427 | (-4.53, -45.27, 22.25) | |
| 3:164776771 | rs141450837 | S>C | A:427 | (-4.53, -45.27, 22.25) |
| 3:164776765 | COSM3589595 | P>S | A:429 | (-4.29, -40.08, 26.08) |
| 3:164776758 | I>T | A:431 | (-2.91, -33.77, 26.60) | |
| 3:164776753 | COSM3589594 COSM1536816 |
E>K | A:433 | (-4.11, -25.94, 29.32) |
| 3:164773088 | P>L | A:436 | (-5.35, -27.41, 36.36) | |
| 3:164773082 | rs555452538 | L>S | A:438 | (-1.22, -30.05, 31.49) |
| 3:164773074 | Y>H | A:441 | (-10.18, -33.33, 27.94) | |
| 3:164773061 | rs573256083 | T>S | A:445 | (-19.98, -41.18, 25.43) |
| 3:164773056 | P>T | A:447 | (-20.63, -46.50, 29.59) | |
| 3:164773049 | C>F | A:449 | (-17.21, -42.43, 32.25) | |
| 3:164773050 | C>S | A:449 | (-17.21, -42.43, 32.25) | |
| 3:164773022 | rs143176463 | S>I | A:458 | (-19.84, -40.44, 46.03) |
| 3:164773019 | I>T | A:459 | (-15.74, -40.52, 46.83) | |
| 3:164773020 | I>V | A:459 | (-15.74, -40.52, 46.83) | |
| 3:164773009 | rs202203549 | Q>H | A:462 | (-18.34, -39.47, 51.77) |
| 3:164772985 | W>C | A:470 | (-21.35, -24.03, 37.88) | |
| 3:164767650 | rs551453053 | V>A | A:476 | (-14.74, -29.24, 25.16) |
| 3:164767651 | V>I | A:476 | (-14.74, -29.24, 25.16) | |
| 3:164767643 | S>R | A:478 | (-8.94, -25.43, 25.54) | |
| 3:164767632 | rs144972103 | G>V | A:482 | (-5.92, -28.80, 20.38) |
| 3:164767615 | N>H | A:488 | (-2.95, -33.42, 12.33) | |
| 3:164767609 | N>H | A:490 | (-6.52, -33.30, 8.43) | |
| 3:164767593 | COSM479659 | P>L | A:495 | (-12.26, -27.89, 6.64) |
| 3:164767590 | COSM3589588 COSM3733383 |
P>L | A:496 | (-13.47, -28.01, 2.68) |
| 3:164767022 | D>E | A:503 | (-10.91, -17.85, 15.17) | |
| 3:164767023 | rs376816463 | D>V | A:503 | (-10.91, -17.85, 15.17) |
| 3:164767013 | rs568842900 | M>I | A:506 | (-12.97, -26.44, 13.50) |
| 3:164767014 | M>T | A:506 | (-12.97, -26.44, 13.50) | |
| 3:164767015 | M>L | A:506 | (-12.97, -26.44, 13.50) | |
| 3:164767012 | Y>H | A:507 | (-7.86, -26.54, 16.03) | |
| 3:164767008 | rs549568693 | S>F | A:508 | (-10.24, -22.80, 18.38) |
| 3:164766993 | M>R | A:513 | (-11.73, -32.01, 15.17) | |
| 3:164766987 | A>V | A:515 | (-10.66, -37.18, 18.30) | |
| 3:164766970 | K>E | A:521 | (-15.43, -38.07, 15.77) | |
| 3:164766966 | Q>R | A:522 | (-14.51, -34.05, 18.31) | |
| 3:164766950 | S>R | A:527 | (-21.68, -30.06, 19.88) | |
| 3:164766951 | S>N | A:527 | (-21.68, -30.06, 19.88) | |
| 3:164766936 | rs149898910 | S>T | A:532 | (-22.77, -36.03, 27.58) |
| 3:164766918 | E>G | A:538 | (-29.42, -37.06, 35.33) | |
| 3:164764798 | rs199996048 | A>V | A:540 | (-24.39, -38.87, 39.57) |
| 3:164764792 | Q>R | A:542 | (-29.97, -40.50, 41.15) | |
| 3:164764786 | rs121912615 | V>G | A:544 | (-25.01, -38.75, 45.54) |
| 3:164764783 | F>S | A:545 | (-27.95, -36.39, 45.96) | |
| 3:164764780 | P>R | A:546 | (-30.72, -41.20, 46.51) | |
| 3:164764776 | N>K | A:547 | (-35.45, -40.51, 44.37) | |
| 3:164764777 | N>S | A:547 | (-35.45, -40.51, 44.37) | |
| 3:164764772 | R>G | A:549 | (-36.18, -33.04, 42.01) | |
| 3:164764753 | R>H | A:555 | (-20.71, -23.02, 29.62) | |
| 3:164764736 | S>P | A:561 | (-30.41, -30.28, 27.44) | |
| 3:164764728 | COSM126162 | R>S | A:563 | (-34.39, -35.41, 29.56) |
| 3:164764725 | H>Q | A:564 | (-30.82, -34.07, 30.99) | |
| 3:164764724 | A>S | A:565 | (-30.26, -29.16, 32.76) | |
| 3:164764720 | A>V | A:566 | (-29.76, -25.84, 33.76) | |
| 3:164764699 | T>I | A:573 | (-20.63, -7.55, 30.58) | |
| 3:164764659 | M>I | A:586 | (-34.79, -15.56, 28.77) | |
| 3:164764649 | S>G | A:590 | (-38.00, -20.84, 26.49) | |
| 3:164764643 | F>L | A:592 | (-34.13, -23.43, 22.40) | |
| 3:164764634 | P>S | A:595 | (-37.16, -23.86, 31.53) | |
| 3:164760954 | D>N | A:600 | (-24.81, -13.75, 35.45) | |
| 3:164760938 | V>E | A:605 | (-17.08, -8.96, 32.88) | |
| 3:164760932 | rs142789249 | E>G | A:607 | (-16.65, -3.08, 38.07) |
| 3:164760930 | T>P | A:608 | (-21.24, -2.91, 38.90) | |
| 3:164760926 | COSM582399 | T>I | A:609 | (-23.16, 0.63, 38.60) |
| 3:164760913 | rs551975446 | C>W | A:613 | (-26.98, -3.65, 40.19) |
| 3:164760908 | rs375458342 | R>K | A:615 | (-33.19, -0.50, 37.70) |
| 3:164760882 | rs140611221 | P>S | A:624 | (-36.37, -18.21, 35.64) |
| 3:164760854 | COSM729357 | G>A | A:633 | (-11.17, -8.81, 40.80) |
| 3:164760855 | COSM207649 | G>R | A:633 | (-11.17, -8.81, 40.80) |
| 3:164758869 | A>E | A:640 | (-24.92, -6.17, 51.13) | |
| 3:164758864 | F>V | A:642 | (-23.93, -2.06, 46.82) | |
| 3:164758852 | S>T | A:646 | (-29.06, 0.61, 50.56) | |
| 3:164758839 | COSM729358 | K>I | A:650 | (-34.52, -2.09, 49.62) |
| 3:164758833 | S>L | A:652 | (-33.33, -6.22, 46.23) | |
| 3:164758824 | Y>F | A:655 | (-39.14, -5.98, 43.69) | |
| 3:164758816 | I>L | A:658 | (-42.41, -10.03, 45.14) | |
| 3:164758813 | rs371618948 COSM3202778 |
R>C | A:659 | (-38.51, -14.96, 42.82) |
| 3:164758807 | T>S | A:661 | (-44.64, -14.52, 47.46) | |
| 3:164758772 | K>N | A:672 | (-48.28, -26.58, 33.32) | |
| 3:164758770 | A>V | A:673 | (-43.33, -27.78, 31.55) | |
| 3:164757749 | D>N | A:691 | (-51.48, -7.36, 18.36) | |
| 3:164757745 | T>M | A:692 | (-49.06, -7.38, 14.85) | |
| 3:164757727 | D>G | A:698 | (-37.86, -7.78, 22.90) | |
| 3:164757724 | COSM1040771 COSM1536822 COSM247321 |
T>I | A:699 | (-38.39, -4.93, 26.20) |
| 3:164757698 | L>F | A:708 | (-46.34, -8.01, 32.45) | |
| 3:164756913 | T>P | A:719 | (-39.59, 6.52, 31.81) | |
| 3:164756890 | D>E | A:726 | (-56.00, -6.86, 24.39) | |
| 3:164756888 | A>V | A:727 | (-55.95, -6.89, 28.66) | |
| 3:164756889 | A>T | A:727 | (-55.95, -6.89, 28.66) | |
| 3:164756867 | S>F | A:734 | (-51.73, -1.48, 44.26) | |
| 3:164755806 | K>E | A:737 | (-58.06, -1.37, 36.82) | |
| 3:164755793 | rs143885457 | R>K | A:741 | (-57.41, -3.26, 26.77) |
| 3:164755794 | rs147207752 | R>G | A:741 | (-57.41, -3.26, 26.77) |
| 3:164755784 | COSM1536824 | R>Q | A:744 | (-46.07, 1.60, 23.11) |
| 3:164755785 | rs369923936 | R>W | A:744 | (-46.07, 1.60, 23.11) |
| 3:164755774 | M>I | A:747 | (-44.44, 2.54, 32.53) | |
| 3:164755776 | M>V | A:747 | (-44.44, 2.54, 32.53) | |
| 3:164755772 | rs138275610 | Y>F | A:748 | (-42.67, 7.11, 37.21) |
| 3:164755770 | L>I | A:749 | (-40.62, 2.73, 36.42) | |
| 3:164755754 | I>T | A:754 | (-40.06, -3.34, 38.22) | |
| 3:164755745 | rs149382090 | H>R | A:757 | (-48.62, -4.95, 35.60) |
| 3:164755743 | L>F | A:758 | (-51.63, -9.40, 37.63) | |
| 3:164755734 | rs138778317 | G>S | A:761 | (-58.48, -14.10, 34.50) |
| 3:164755715 | Q>R | A:767 | (-46.13, -19.53, 50.34) | |
| 3:164755709 | P>R | A:769 | (-42.69, -14.63, 52.46) | |
| 3:164755700 | T>R | A:772 | (-35.42, -19.93, 53.00) | |
| 3:164755697 | T>I | A:773 | (-37.46, -22.37, 50.14) | |
| 3:164754264 | rs370537003 | R>C | A:777 | (-42.26, -25.70, 51.13) |
| 3:164754246 | L>F | A:783 | (-55.43, -17.44, 46.32) | |
| 3:164754242 | rs551284637 | I>T | A:784 | (-54.00, -13.32, 43.75) |
| 3:164754215 | A>D | A:793 | (-61.23, -16.58, 36.80) | |
| 3:164754209 | G>E | A:795 | (-56.53, -21.65, 37.93) | |
| 3:164754186 | E>Q | A:803 | (-36.95, -33.09, 47.38) | |
| 3:164754182 | COSM332010 | T>I | A:804 | (-38.88, -36.60, 45.25) |
| 3:164754177 | rs201944977 COSM350777 |
D>N | A:806 | (-40.67, -40.26, 41.32) |
| 3:164751224 | Q>K | A:809 | (-43.70, -41.48, 37.52) | |
| 3:164751217 | G>D | A:811 | (-49.01, -39.52, 42.39) | |
| 3:164751213 | rs180685608 | N>K | A:812 | (-47.04, -38.81, 45.31) |
| 3:164751197 | F>L | A:818 | (-57.86, -22.34, 41.67) | |
| 3:164751194 | COSM3589577 | S>A | A:819 | (-63.29, -20.92, 39.50) |
| 3:164751184 | N>S | A:822 | (-71.85, -15.42, 39.87) | |
| 3:164751185 | N>D | A:822 | (-71.85, -15.42, 39.87) | |
| 3:164750464 | V>G | A:828 | (-61.43, -27.99, 42.88) | |
| 3:164750453 | S>A | A:832 | (-54.80, -35.94, 47.14) | |
| 3:164750446 | Y>C | A:834 | (-47.57, -34.22, 50.11) | |
| 3:164750447 | rs140230726 | Y>H | A:834 | (-47.57, -34.22, 50.11) |
| 3:164750441 | E>Q | A:836 | (-47.39, -33.01, 54.45) | |
| 3:164750435 | rs369306303 | T>A | A:838 | (-52.77, -31.83, 54.53) |
| 3:164750432 | T>S | A:839 | (-50.34, -29.43, 57.19) | |
| 3:164750405 | COSM3719278 | L>F | A:848 | (-57.69, -7.64, 42.15) |
| 3:164750397 | L>F | A:850 | (-64.42, -5.71, 42.94) | |
| 3:164750386 | rs146647167 | V>A | A:854 | (-68.53, -6.31, 49.80) |
| 3:164750371 | V>A | A:859 | (-66.99, -19.94, 53.70) | |
| 3:164750368 | rs145893756 | A>V | A:860 | (-68.02, -23.53, 52.08) |
| 3:164750347 | rs565258890 | N>S | A:867 | (-70.55, -20.61, 57.33) |
| 3:164750331 | COSM4114971 | F>L | A:872 | (-64.37, -8.54, 55.22) |
| 3:164750332 | rs200768342 | F>C | A:872 | (-64.37, -8.54, 55.22) |
| 3:164750310 | Q>H | A:879 | (-61.58, -2.46, 44.01) | |
| 3:164748649 | L>V | A:882 | (-58.16, -8.44, 51.93) | |
| 3:164748643 | A>T | A:884 | (-58.59, -12.95, 56.28) | |
| 3:164748637 | COSM381529 | L>I | A:886 | (-59.35, -18.31, 55.51) |
| 3:164748633 | K>R | A:887 | (-58.51, -22.94, 57.55) | |
| 3:164748634 | K>E | A:887 | (-58.51, -22.94, 57.55) | |
| 3:164748603 | rs150927256 | Q>R | A:897 | (-70.15, -16.32, 48.18) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:164786889 | rs121912612 | Q>R | A:84 | (-34.29, -42.33, -10.25) |
| 3:164777814 | rs267607049 | L>P | A:308 | (-39.24, -34.59, 19.15) |
| 3:164764786 | rs121912615 | V>G | A:544 | (-25.01, -38.75, 45.54) |
| 3:164764657 | rs121912613 | L>P | A:587 | (-37.47, -15.38, 25.61) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:164786967 | COSM1693733 | R>K | A:58 | (-18.21, -22.85, -7.86) |
| 3:164786616 | COSM3589610 | V>A | A:93 | (-42.10, -41.22, 0.62) |
| 3:164786523 | COSM4422936 | R>L | A:124 | (-43.79, -35.14, 14.82) |
| 3:164785145 | COSM72642 | K>N | A:173 | (-54.48, -30.04, 4.84) |
| 3:164785146 | COSM1420379 | K>R | A:173 | (-54.48, -30.04, 4.84) |
| 3:164783138 | COSM1617162 | G>S | A:207 | (-34.18, -18.37, 17.10) |
| 3:164783113 | COSM382892 | R>I | A:215 | (-33.70, -7.16, 19.61) |
| 3:164783107 | COSM126163 | R>H | A:217 | (-38.46, -9.83, 14.05) |
| 3:164783108 | COSM116707 | R>C | A:217 | (-38.46, -9.83, 14.05) |
| 3:164777775 | COSM3589599 | G>E | A:321 | (-33.77, -19.59, 44.57) |
| 3:164777015 | COSM1040784 | G>R | A:374 | (-13.72, -25.50, 57.22) |
| 3:164772993 | COSM3589591 | G>R | A:468 | (-25.08, -29.31, 43.81) |
| 3:164767590 | COSM3733383 | P>Q | A:496 | (-13.47, -28.01, 2.68) |
| 3:164764781 | COSM1693726 | P>S | A:546 | (-30.72, -41.20, 46.51) |
| 3:164764774 | COSM353184 | K>T | A:548 | (-33.78, -36.65, 46.08) |
| 3:164760935 | COSM1287895 | A>D | A:606 | (-16.83, -5.73, 35.02) |
| 3:164760924 | COSM3589583 | E>K | A:610 | (-26.16, 1.74, 42.60) |
| 3:164758812 | COSM1225686 | R>H | A:659 | (-38.51, -14.96, 42.82) |
| 3:164757752 | COSM4600152 | E>K | A:690 | (-54.40, -11.87, 18.80) |
| 3:164754245 | COSM1632954 | L>R | A:783 | (-55.43, -17.44, 46.32) |
| 3:164751187 | COSM1752998 | S>F | A:821 | (-68.23, -17.03, 38.68) |
| 3:164750437 | COSM3589575 | G>E | A:837 | (-49.72, -30.92, 52.66) |
| 3:164750338 | COSM1599927 | S>F | A:870 | (-65.61, -11.82, 59.94) |
| 3:164748652 | COSM4592356 | L>F | A:881 | (-61.86, -8.23, 48.77) |
| 3:164748630 | COSM1265573 | L>R | A:888 | (-59.08, -22.96, 52.92) |