General Structure Information
| PDB ID | 1zd8 |
| HGNC Gene Label(s) | AK3 |
| Structure Name | structure of human adenylate kinase 3 like 1 |
| Resolution | 1.48Å |
| Reference | AUTH A.ATANASSOVA,J.CHOE,C.ARROWSMITH,A.EDWARDS,AUTH 2 M.SUNDSTROM,A.BOCHKAREV,H.PARKTITL STRUCTURE OF HUMAN ADENYLATE KINASE 3 LIKE 1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 212 |
| Number Of SNVs | 75 |
| Number Of Permutations | 31741 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.023 |
| p-value | 0.336 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 9:4741049 | rs144288990 | M>I | A:12 | (17.99, 7.29, 0.58) |
| 9:4741048 | rs368574635 | G>R | A:13 | (18.24, 4.67, 4.22) |
| 9:4741045 | A>S | A:14 | (18.94, 3.87, 7.44) | |
| 9:4741042 | rs149999263 | P>S | A:15 | (20.82, 1.49, 8.83) |
| 9:4741023 | rs139274633 | T>N | A:21 | (12.00, -4.92, 2.48) |
| 9:4741021 | V>L | A:22 | (11.00, -1.30, 0.30) | |
| 9:4741012 | R>C | A:25 | (7.97, -5.31, -0.48) | |
| 9:4741002 | rs202145269 | T>I | A:28 | (8.55, -7.83, -7.12) |
| 9:4741000 | COSM1462547 | H>Y | A:29 | (5.24, -5.65, -7.19) |
| 9:4740983 | H>Q | A:34 | (17.80, -3.36, -6.96) | |
| 9:4740978 | S>F | A:36 | (23.01, -2.59, -5.01) | |
| 9:4740970 | D>H | A:39 | (24.90, -6.30, -4.07) | |
| 9:4740966 | L>R | A:40 | (28.43, -3.72, -7.58) | |
| 9:4740964 | L>F | A:41 | (31.06, -3.46, -3.99) | |
| 9:4740961 | R>W | A:42 | (28.63, -7.41, -1.49) | |
| 9:4740946 | R>W | A:47 | (33.67, -11.02, -10.38) | |
| 9:4740939 | rs376326632 | T>I | A:49 | (37.78, -7.77, -9.46) |
| 9:4722622 | rs374594568 | I>T | A:51 | (37.53, -2.50, -7.96) |
| 9:4722617 | V>M | A:53 | (40.77, -6.43, -3.96) | |
| 9:4722610 | rs146101604 | A>G | A:55 | (36.70, -3.08, -1.59) |
| 9:4722607 | K>T | A:56 | (38.44, -7.10, 1.21) | |
| 9:4722605 | A>S | A:57 | (40.53, -3.04, 1.81) | |
| 9:4722598 | I>T | A:59 | (34.75, -3.10, 3.48) | |
| 9:4722594 | rs138113344 | D>E | A:60 | (37.92, -5.62, 5.80) |
| 9:4722574 | rs141767297 | D>V | A:67 | (33.62, 9.54, -3.28) |
| 9:4722575 | rs370754329 | D>H | A:67 | (33.62, 9.54, -3.28) |
| 9:4722564 | COSM1625023 COSM69597 |
M>I | A:70 | (31.80, 4.11, -5.47) |
| 9:4722562 | T>I | A:71 | (31.46, 7.44, -8.95) | |
| 9:4722559 | R>Q | A:72 | (35.98, 5.86, -11.17) | |
| 9:4722560 | rs377403539 | R>W | A:72 | (35.98, 5.86, -11.17) |
| 9:4722554 | rs148233791 | A>T | A:74 | (28.49, 3.27, -10.82) |
| 9:4722529 | T>I | A:82 | (20.39, 3.25, -20.44) | |
| 9:4722530 | T>S | A:82 | (20.39, 3.25, -20.44) | |
| 9:4722526 | rs372869525 | Q>R | A:83 | (18.26, -0.55, -21.66) |
| 9:4722515 | L>M | A:87 | (15.88, 1.42, -7.61) | |
| 9:4719301 | P>R | A:92 | (23.93, 8.42, -3.72) | |
| 9:4719297 | R>S | A:93 | (27.02, 6.10, 1.72) | |
| 9:4719299 | rs577153222 | R>G | A:93 | (27.02, 6.10, 1.72) |
| 9:4719295 | rs373325538 | T>R | A:94 | (28.22, 10.99, -0.55) |
| 9:4719296 | T>A | A:94 | (28.22, 10.99, -0.55) | |
| 9:4719292 | L>P | A:95 | (27.15, 15.78, -1.69) | |
| 9:4719289 | P>Q | A:96 | (30.32, 14.06, -3.53) | |
| 9:4719287 | rs143083216 | Q>K | A:97 | (28.64, 9.74, -4.43) |
| 9:4719280 | E>A | A:99 | (27.48, 16.77, -6.58) | |
| 9:4719271 | D>G | A:102 | (23.34, 15.87, -11.43) | |
| 9:4719262 | Y>C | A:105 | (22.83, 9.37, -15.95) | |
| 9:4719256 | I>N | A:107 | (17.84, 11.72, -10.95) | |
| 9:4719254 | rs149059008 | D>N | A:108 | (13.28, 12.18, -12.16) |
| 9:4719247 | V>E | A:110 | (14.72, 10.63, -4.28) | |
| 9:4719225 | rs137937965 | F>L | A:117 | (18.02, 7.36, 16.61) |
| 9:4719226 | F>S | A:117 | (18.02, 7.36, 16.61) | |
| 9:4719221 | V>I | A:119 | (12.78, 2.82, 16.02) | |
| 9:4719214 | K>R | A:121 | (19.02, 2.33, 19.10) | |
| 9:4719208 | rs558318849 | R>H | A:123 | (14.16, -1.70, 13.96) |
| 9:4719209 | R>C | A:123 | (14.16, -1.70, 13.96) | |
| 9:4719206 | L>V | A:124 | (20.05, -2.12, 14.83) | |
| 9:4719196 | R>H | A:127 | (20.51, -10.86, 17.23) | |
| 9:4719172 | R>Q | A:135 | (19.63, -21.16, 21.95) | |
| 9:4719160 | I>S | A:139 | (14.08, -7.66, 23.05) | |
| 9:4719158 | E>K | A:140 | (11.68, -5.98, 19.39) | |
| 9:4719150 | N>K | A:142 | (12.35, -13.97, 20.42) | |
| 9:4719137 | V>M | A:147 | (15.78, -10.78, 31.65) | |
| 9:4718506 | I>T | A:158 | (25.99, -12.48, 24.41) | |
| 9:4718507 | I>F | A:158 | (25.99, -12.48, 24.41) | |
| 9:4718503 | Q>R | A:159 | (24.75, -7.83, 22.40) | |
| 9:4718498 | E>Q | A:161 | (30.73, -5.94, 19.56) | |
| 9:4718485 | rs570611598 | P>L | A:165 | (24.51, 0.08, 21.96) |
| 9:4718479 | T>M | A:167 | (28.48, -0.15, 17.55) | |
| 9:4718477 | V>I | A:168 | (24.40, 1.12, 16.63) | |
| 9:4718471 | K>Q | A:170 | (30.32, 5.03, 15.53) | |
| 9:4718466 | R>S | A:171 | (25.80, 1.48, 11.26) | |
| 9:4718460 | K>N | A:173 | (25.84, 9.47, 14.92) | |
| 9:4718448 | D>E | A:177 | (27.23, 12.88, 9.39) | |
| 9:4718450 | D>H | A:177 | (27.23, 12.88, 9.39) | |
| 9:4718446 | Q>R | A:178 | (27.64, 9.91, 5.29) | |
| 9:4718440 | rs151087607 | K>T | A:180 | (21.98, 16.40, 6.72) |
| 9:4713091 | rs559439993 | K>R | A:189 | (17.42, 19.59, -7.11) |
| 9:4713088 | G>V | A:190 | (12.30, 18.53, -5.85) | |
| 9:4713068 | rs372383858 | G>R | A:197 | (7.58, 5.56, 10.01) |
| 9:4713058 | rs140003401 | T>I | A:200 | (8.07, -1.62, 6.82) |
| 9:4713048 | COSM3907504 | I>M | A:203 | (6.18, 2.89, 5.08) |
| 9:4713050 | I>V | A:203 | (6.18, 2.89, 5.08) | |
| 9:4713040 | Y>C | A:206 | (1.16, 5.26, 2.10) | |
| 9:4713019 | T>S | A:213 | (2.20, 7.36, -11.78) | |
| 9:4713020 | T>A | A:213 | (2.20, 7.36, -11.78) | |
| 9:4713015 | K>N | A:214 | (6.38, 7.71, -11.26) | |
| 9:4713017 | K>E | A:214 | (6.38, 7.71, -11.26) |