General Structure Information
| PDB ID | 1awb |
| HGNC Gene Label(s) | IMPA1 |
| Structure Name | human myo-inositol monophosphatase in complex with d- inositol-1-phosphate and calcium |
| Resolution | 2.5Å |
| Reference | AUTH A.J.GANZHORN,J.-M.RONDEAUTITL STRUCTURE OF AN ENZYME-SUBSTRATE COMPLEX AND THETITL 2 CATALYTIC MECHANISM OF HUMAN BRAIN MYO-INOSITOLTITL 3 MONOPHOSPHATASEREF PROTEIN ENG. V. 10 61 1997REFN ISSN 0269-2139 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 272 |
| Number Of SNVs | 75 |
| Number Of Permutations | 25285 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.046 |
| p-value | 0.654 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:82593771 | M>V | A:9 | (19.20, 71.13, 17.08) | |
| 8:82593768 | D>Y | A:10 | (18.40, 75.35, 16.33) | |
| 8:82593764 | Y>C | A:11 | (17.22, 74.20, 9.66) | |
| 8:82593762 | A>T | A:12 | (15.47, 70.83, 12.97) | |
| 8:82593735 | E>K | A:21 | (2.31, 73.59, 10.11) | |
| 8:82593017 | V>G | A:22 | (1.91, 70.10, 6.76) | |
| 8:82593018 | COSM1314229 COSM1314228 |
V>I | A:22 | (1.91, 70.10, 6.76) |
| 8:82593012 | C>G | A:24 | (-1.76, 68.73, 11.63) | |
| 8:82593006 | A>T | A:26 | (-3.78, 66.95, 6.46) | |
| 8:82593002 | I>T | A:27 | (-5.19, 65.09, 10.11) | |
| 8:82592996 | N>T | A:29 | (-8.44, 67.12, 5.10) | |
| 8:82592990 | M>T | A:31 | (-6.61, 61.06, 3.61) | |
| 8:82592991 | M>V | A:31 | (-6.61, 61.06, 3.61) | |
| 8:82592987 | rs574730302 | N>T | A:32 | (-5.17, 58.80, -1.46) |
| 8:82592972 | rs555250439 | S>N | A:37 | (3.99, 45.59, 1.71) |
| 8:82592967 | rs61755740 | P>S | A:39 | (-3.03, 45.42, 3.47) |
| 8:82592963 | V>G | A:40 | (-1.55, 46.82, 7.08) | |
| 8:82592955 | rs559160169 | V>L | A:43 | (1.37, 55.47, 2.18) |
| 8:82592945 | rs61755741 | T>K | A:46 | (1.50, 63.71, 3.48) |
| 8:82592946 | T>A | A:46 | (1.50, 63.71, 3.48) | |
| 8:82592943 | D>Y | A:47 | (3.94, 60.25, 4.29) | |
| 8:82592938 | Q>H | A:48 | (5.32, 60.62, -0.35) | |
| 8:82592919 | I>F | A:55 | (15.55, 65.73, 2.14) | |
| 8:82592915 | S>F | A:56 | (15.26, 69.64, 0.20) | |
| 8:82592898 | rs150137136 | Y>H | A:62 | (23.28, 71.86, 6.55) |
| 8:82591450 | E>D | A:71 | (8.87, 56.91, 2.15) | |
| 8:82591451 | rs368732512 | E>V | A:71 | (8.87, 56.91, 2.15) |
| 8:82591412 | rs147011930 | N>S | A:84 | (28.79, 61.85, 6.80) |
| 8:82591410 | P>T | A:85 | (27.11, 64.04, 8.62) | |
| 8:82591401 | rs190992389 | I>V | A:88 | (17.88, 59.40, 10.52) |
| 8:82591389 | I>V | A:92 | (4.24, 60.67, 9.14) | |
| 8:82591385 | D>A | A:93 | (5.77, 57.91, 13.52) | |
| 8:82591377 | T>A | A:96 | (-2.43, 54.10, 10.86) | |
| 8:82591370 | rs142316043 | F>Y | A:98 | (-2.34, 60.91, 9.02) |
| 8:82591364 | H>R | A:100 | (-7.92, 55.80, 11.20) | |
| 8:82591365 | rs530938390 | H>Y | A:100 | (-7.92, 55.80, 11.20) |
| 8:82591362 | R>G | A:101 | (-8.92, 61.84, 11.16) | |
| 8:82588504 | V>L | A:105 | (0.98, 62.22, 14.65) | |
| 8:82588492 | rs204781 | I>V | A:109 | (14.49, 64.62, 12.88) |
| 8:82588486 | F>L | A:111 | (22.77, 64.80, 13.00) | |
| 8:82588474 | K>E | A:115 | (28.65, 55.39, 12.71) | |
| 8:82586179 | E>D | A:118 | (25.10, 64.41, 18.57) | |
| 8:82586172 | V>I | A:121 | (13.73, 66.43, 16.84) | |
| 8:82586154 | rs376742471 | E>Q | A:127 | (0.05, 66.69, 21.69) |
| 8:82586099 | K>R | A:145 | (14.84, 68.83, 32.25) | |
| 8:82586084 | Q>P | A:150 | (13.14, 56.66, 40.46) | |
| 8:82583280 | rs61734512 | I>V | A:154 | (8.77, 44.57, 36.81) |
| 8:82583273 | rs374177106 COSM1101993 COSM1597819 |
K>T | A:156 | (5.21, 48.02, 41.15) |
| 8:82583270 | COSM1101992 COSM1597820 |
S>Y | A:157 | (5.71, 48.52, 35.58) |
| 8:82583271 | S>A | A:157 | (5.71, 48.52, 35.58) | |
| 8:82583255 | E>G | A:162 | (2.84, 48.86, 19.38) | |
| 8:82583237 | rs148950764 | T>I | A:168 | (2.50, 36.35, 10.07) |
| 8:82583204 | M>T | A:179 | (1.93, 41.05, 25.45) | |
| 8:82583205 | M>V | A:179 | (1.93, 41.05, 25.45) | |
| 8:82583190 | rs373435242 | C>R | A:184 | (1.54, 37.49, 33.90) |
| 8:82583187 | rs537507388 | I>V | A:185 | (5.57, 39.24, 35.79) |
| 8:82583177 | rs145775263 | H>R | A:188 | (0.99, 48.13, 37.55) |
| 8:82572897 | COSM150500 | R>Q | A:191 | (-1.02, 51.14, 28.43) |
| 8:82572894 | S>N | A:192 | (-0.64, 51.03, 22.69) | |
| 8:82572880 | A>T | A:197 | (8.45, 58.00, 19.08) | |
| 8:82572869 | M>I | A:200 | (10.68, 56.05, 22.95) | |
| 8:82572856 | rs149824165 | T>A | A:205 | (8.07, 61.86, 30.46) |
| 8:82572849 | G>A | A:207 | (4.78, 57.69, 32.21) | |
| 8:82572850 | rs562872543 | G>R | A:207 | (4.78, 57.69, 32.21) |
| 8:82572844 | D>N | A:209 | (8.38, 52.69, 33.43) | |
| 8:82572807 | V>A | A:221 | (14.75, 54.72, 17.16) | |
| 8:82572790 | I>V | A:227 | (14.82, 62.05, 23.88) | |
| 8:82572784 | T>S | A:229 | (19.38, 58.69, 26.90) | |
| 8:82572769 | rs202089380 COSM751640 COSM1151161 |
V>M | A:234 | (18.70, 52.75, 29.16) |
| 8:82572754 | T>A | A:239 | (19.47, 40.35, 23.22) | |
| 8:82571698 | G>E | A:241 | (22.51, 43.94, 24.23) | |
| 8:82571682 | M>I | A:246 | (20.54, 49.50, 11.70) | |
| 8:82571681 | S>A | A:247 | (18.63, 45.79, 14.87) | |
| 8:82571677 | R>Q | A:248 | (14.04, 45.73, 12.31) | |
| 8:82571672 | V>I | A:250 | (14.44, 48.50, 20.97) | |
| 8:82571665 | rs146624224 | A>V | A:252 | (13.42, 51.86, 26.15) |
| 8:82571657 | N>D | A:255 | (16.32, 51.25, 34.78) | |
| 8:82571636 | I>V | A:262 | (11.98, 43.27, 29.71) | |
| 8:82571633 | rs374985214 | A>T | A:263 | (15.14, 40.58, 28.07) |
| 8:82571621 | Q>E | A:267 | (10.90, 34.33, 22.78) | |
| 8:82571602 | R>Q | A:273 | (20.64, 44.42, 10.37) | |
| 8:82571597 | D>N | A:275 | (22.52, 47.01, 7.45) | |
| 8:82571592 | E>D | A:276 | (21.10, 43.40, 5.62) |