General Structure Information
| PDB ID | 1hci |
| HGNC Gene Label(s) | ACTN2 |
| Structure Name | crystal structure of the rod domain of alpha-actinin |
| Resolution | 2.8Å |
| Reference | AUTH J.YLANNE,K.SCHEFFZEK,P.YOUNG,M.SARASTETITL CRYSTAL STRUCTURE OF THE ALPHA-ACTININ ROD REVEALSTITL 2 AN EXTENSIVE TORSIONAL TWISTREF STRUCTURE V. 9 597 2001REFN ISSN 0969-2126PMID 11470434DOI 10.1016/S0969-2126(01)00619-0 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 473 |
| Number Of SNVs | 131 |
| Number Of Permutations | 75536 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.025 |
| p-value | 0.97 |
ClinVar
| Number Of Residues | 473 |
| Number Of SNVs | 5 |
| Number Of Permutations | 5967 |
| Optimal Distance Threshold | 81.0 |
| K Statistic | 0.8 |
| p-value | 0.406 |
COSMIC
| Number Of Residues | 473 |
| Number Of SNVs | 12 |
| Number Of Permutations | 30059 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.061 |
| p-value | 0.187 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 131 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 81.0 |
| K Statistic | 0.259 |
| p-value | 0.426 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 131 |
| Number Of COSMIC SNVs | 14 |
| Optimal Distance Threshold | 34.0 |
| K Statistic | -0.103 |
| p-value | 0.253 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:236902615 | I>T | A:297 | (67.41, -31.74, 12.02) | |
| 1:236902618 | rs142482143 | R>H | A:298 | (67.85, -36.33, 13.06) |
| 1:236902639 | E>A | A:305 | (74.16, -34.38, 2.45) | |
| 1:236902644 | R>W | A:307 | (74.14, -33.08, -3.51) | |
| 1:236902651 | rs146568303 | P>L | A:309 | (73.00, -37.17, -10.46) |
| 1:236902662 | M>L | A:313 | (66.35, -30.93, -18.06) | |
| 1:236902669 | A>D | A:315 | (63.85, -34.57, -13.97) | |
| 1:236902672 | rs370757762 | M>T | A:316 | (67.59, -32.41, -12.55) |
| 1:236902680 | K>E | A:319 | (65.64, -32.82, -7.77) | |
| 1:236902695 | R>W | A:324 | (60.69, -24.16, -5.66) | |
| 1:236902704 | R>C | A:327 | (64.15, -21.93, 1.98) | |
| 1:236902705 | rs554811924 COSM238673 |
R>H | A:327 | (64.15, -21.93, 1.98) |
| 1:236902707 | R>W | A:328 | (57.46, -21.01, -0.45) | |
| 1:236902708 | R>Q | A:328 | (57.46, -21.01, -0.45) | |
| 1:236902719 | P>S | A:332 | (60.50, -21.40, 6.82) | |
| 1:236902726 | K>R | A:334 | (60.76, -25.69, 11.32) | |
| 1:236902728 | V>L | A:335 | (63.41, -20.73, 11.38) | |
| 1:236902734 | E>Q | A:337 | (59.46, -23.92, 15.12) | |
| 1:236902764 | T>S | A:347 | (59.18, -17.34, 29.46) | |
| 1:236902765 | T>M | A:347 | (59.18, -17.34, 29.46) | |
| 1:236902771 | rs376335356 | Q>L | A:349 | (64.54, -20.12, 32.98) |
| 1:236902782 | rs1150181 COSM4029844 |
R>W | A:353 | (64.93, -15.66, 37.98) |
| 1:236902783 | R>Q | A:353 | (64.93, -15.66, 37.98) | |
| 1:236902792 | N>S | A:356 | (62.72, -18.44, 43.58) | |
| 1:236902794 | R>C | A:357 | (60.30, -24.02, 41.17) | |
| 1:236902795 | COSM4029845 | R>H | A:357 | (60.30, -24.02, 41.17) |
| 1:236902806 | rs368409665 | M>V | A:361 | (68.62, -28.60, 30.85) |
| 1:236902815 | rs572523462 COSM210465 |
E>K | A:364 | (71.40, -34.16, 27.36) |
| 1:236902824 | M>V | A:367 | (70.89, -30.45, 23.68) | |
| 1:236902831 | S>L | A:369 | (73.17, -24.91, 23.34) | |
| 1:236906196 | D>N | A:370 | (73.66, -28.30, 21.18) | |
| 1:236906203 | rs143200575 | A>G | A:372 | (73.05, -24.59, 17.41) |
| 1:236906205 | G>S | A:373 | (74.01, -27.46, 15.53) | |
| 1:236906215 | Q>R | A:376 | (75.49, -25.15, 11.47) | |
| 1:236906233 | COSM4029846 | E>G | A:382 | (70.97, -26.12, 2.47) |
| 1:236906244 | COSM3485650 | E>K | A:386 | (69.54, -23.78, -5.38) |
| 1:236906250 | rs376144003 | W>R | A:388 | (73.43, -30.41, -7.95) |
| 1:236906260 | rs547711260 | N>S | A:391 | (74.98, -25.68, -12.49) |
| 1:236906262 | E>K | A:392 | (73.42, -30.33, -13.40) | |
| 1:236906268 | rs559395092 | R>W | A:394 | (72.80, -23.97, -16.04) |
| 1:236906269 | COSM2000850 | R>Q | A:394 | (72.80, -23.97, -16.04) |
| 1:236906280 | rs148189507 | R>C | A:398 | (74.64, -26.35, -25.09) |
| 1:236906281 | R>H | A:398 | (74.64, -26.35, -25.09) | |
| 1:236906289 | H>Y | A:401 | (70.86, -27.87, -28.55) | |
| 1:236906320 | S>L | A:411 | (71.76, -37.44, -40.51) | |
| 1:236906322 | T>A | A:412 | (72.05, -34.36, -43.26) | |
| 1:236906323 | rs139515659 | T>M | A:412 | (72.05, -34.36, -43.26) |
| 1:236906326 | H>L | A:413 | (77.38, -35.62, -44.18) | |
| 1:236906327 | H>Q | A:413 | (77.38, -35.62, -44.18) | |
| 1:236907936 | Q>H | A:422 | (81.26, -46.70, -54.97) | |
| 1:236907941 | L>S | A:424 | (84.27, -40.90, -56.92) | |
| 1:236907962 | rs149846886 | S>L | A:431 | (85.68, -45.63, -73.28) |
| 1:236907965 | A>V | A:432 | (86.20, -41.86, -73.71) | |
| 1:236907968 | rs143749154 | S>L | A:433 | (85.73, -38.88, -76.02) |
| 1:236907974 | T>I | A:435 | (84.29, -34.28, -75.75) | |
| 1:236907979 | V>M | A:437 | (86.71, -36.76, -70.85) | |
| 1:236907982 | rs563171274 | R>W | A:438 | (87.61, -31.97, -73.00) |
| 1:236907983 | R>Q | A:438 | (87.61, -31.97, -73.00) | |
| 1:236907994 | R>W | A:442 | (83.25, -28.58, -67.64) | |
| 1:236907995 | COSM533512 | R>Q | A:442 | (83.25, -28.58, -67.64) |
| 1:236907998 | K>M | A:443 | (79.74, -33.26, -64.84) | |
| 1:236908002 | rs373709019 | H>Q | A:444 | (85.17, -33.64, -60.94) |
| 1:236908003 | E>K | A:445 | (84.49, -27.89, -61.72) | |
| 1:236908007 | COSM1742687 | A>V | A:446 | (80.70, -29.57, -59.66) |
| 1:236908013 | E>G | A:448 | (85.73, -30.44, -57.21) | |
| 1:236908028 | rs566860712 | A>V | A:453 | (80.45, -26.83, -49.40) |
| 1:236908039 | COSM210467 | R>C | A:457 | (77.68, -30.57, -43.34) |
| 1:236908054 | rs376923220 | A>S | A:462 | (83.09, -32.11, -34.70) |
| 1:236908060 | I>V | A:464 | (78.47, -30.60, -31.93) | |
| 1:236908063 | rs371434667 | A>T | A:465 | (81.16, -33.87, -30.41) |
| 1:236910975 | D>V | A:472 | (80.65, -35.64, -19.20) | |
| 1:236910983 | rs80257412 | D>N | A:475 | (76.17, -41.47, -26.04) |
| 1:236910993 | N>I | A:478 | (78.13, -43.90, -29.47) | |
| 1:236911004 | rs199604590 | R>W | A:482 | (77.17, -40.74, -36.16) |
| 1:236911005 | COSM4029851 | R>Q | A:482 | (77.17, -40.74, -36.16) |
| 1:236911035 | R>Q | A:492 | (87.72, -42.51, -47.55) | |
| 1:236911044 | rs200248944 CM101366 |
T>M | A:495 | (91.87, -38.44, -51.84) |
| 1:236912427 | rs144553482 | M>V | A:507 | (92.18, -39.93, -70.81) |
| 1:236912430 | E>K | A:508 | (92.23, -34.05, -71.55) | |
| 1:236912446 | T>N | A:513 | (98.08, -36.57, -78.37) | |
| 1:236912448 | I>V | A:514 | (95.65, -39.78, -80.12) | |
| 1:236912449 | rs371954663 | I>T | A:514 | (95.65, -39.78, -80.12) |
| 1:236912457 | L>F | A:517 | (98.82, -37.59, -84.13) | |
| 1:236912460 | rs573836993 | H>Y | A:518 | (94.37, -39.48, -85.70) |
| 1:236912461 | H>P | A:518 | (94.37, -39.48, -85.70) | |
| 1:236912481 | A>T | A:525 | (97.13, -38.16, -96.87) | |
| 1:236912490 | F>L | A:528 | (100.97, -38.84, -100.81) | |
| 1:236912494 | rs200143657 | N>S | A:529 | (95.84, -39.99, -102.34) |
| 1:236912502 | rs200969588 | M>L | A:532 | (99.80, -41.53, -105.26) |
| 1:236912507 | E>D | A:533 | (95.43, -41.46, -107.92) | |
| 1:236912508 | rs376596726 | G>S | A:534 | (98.11, -38.63, -110.83) |
| 1:236912511 | A>S | A:535 | (100.79, -40.31, -111.32) | |
| 1:236912512 | A>V | A:535 | (100.79, -40.31, -111.32) | |
| 1:236912514 | M>V | A:536 | (98.75, -44.00, -111.14) | |
| 1:236912515 | M>T | A:536 | (98.75, -44.00, -111.14) | |
| 1:236912532 | M>V | A:542 | (97.41, -42.92, -124.89) | |
| 1:236912533 | M>R | A:542 | (97.41, -42.92, -124.89) | |
| 1:236912554 | rs149794430 | E>V | A:549 | (111.43, -32.23, -131.11) |
| 1:236914771 | S>T | A:553 | (109.40, -33.70, -124.82) | |
| 1:236914816 | COSM4029852 | A>G | A:568 | (107.92, -38.66, -102.39) |
| 1:236914821 | rs373132971 | G>R | A:570 | (109.52, -38.96, -97.84) |
| 1:236914822 | COSM4029853 | G>E | A:570 | (109.52, -38.96, -97.84) |
| 1:236914827 | rs142142718 | R>W | A:572 | (106.26, -43.65, -97.96) |
| 1:236914828 | rs141434302 | R>Q | A:572 | (106.26, -43.65, -97.96) |
| 1:236914836 | I>V | A:575 | (102.70, -39.82, -93.70) | |
| 1:236914851 | N>D | A:580 | (103.91, -45.68, -86.37) | |
| 1:236914884 | rs377650301 | I>V | A:591 | (93.79, -46.55, -75.00) |
| 1:236914886 | I>M | A:591 | (93.79, -46.55, -75.00) | |
| 1:236914888 | R>I | A:592 | (89.03, -49.18, -75.27) | |
| 1:236914891 | rs371143839 | I>T | A:593 | (89.97, -45.12, -79.12) |
| 1:236914917 | rs377356540 | V>I | A:602 | (93.23, -42.96, -96.68) |
| 1:236914923 | rs35997569 | M>V | A:604 | (99.24, -46.07, -94.01) |
| 1:236914924 | M>T | A:604 | (99.24, -46.07, -94.01) | |
| 1:236914925 | COSM906081 | M>I | A:604 | (99.24, -46.07, -94.01) |
| 1:236914935 | rs397516571 | R>W | A:608 | (102.67, -50.36, -99.35) |
| 1:236914936 | rs529944004 | R>Q | A:608 | (102.67, -50.36, -99.35) |
| 1:236914938 | T>P | A:609 | (99.11, -50.38, -102.51) | |
| 1:236917268 | R>C | A:621 | (105.60, -44.08, -119.63) | |
| 1:236917269 | rs368040932 | R>H | A:621 | (105.60, -44.08, -119.63) |
| 1:236917271 | rs138452803 | D>N | A:622 | (110.83, -46.03, -119.00) |
| 1:236917272 | D>G | A:622 | (110.83, -46.03, -119.00) | |
| 1:236917299 | rs370908799 | R>H | A:631 | (108.61, -45.68, -134.53) |
| 1:236917313 | E>K | A:636 | (115.23, -39.46, -139.31) | |
| 1:236917316 | rs570051117 COSM679997 |
R>C | A:637 | (117.66, -45.17, -139.41) |
| 1:236917325 | R>C | A:640 | (119.68, -39.18, -142.79) | |
| 1:236917326 | R>H | A:640 | (119.68, -39.18, -142.79) | |
| 1:236917337 | rs146164600 | A>T | A:644 | (120.73, -39.20, -150.19) |
| 1:236917352 | I>V | A:649 | (118.87, -39.82, -158.58) | |
| 1:236917353 | rs150825710 | I>T | A:649 | (118.87, -39.82, -158.58) |
| 1:236917359 | P>L | A:651 | (120.85, -34.31, -160.04) | |
| 1:236917367 | rs549009790 | Q>K | A:654 | (118.32, -32.36, -165.11) |
| 1:236917376 | M>L | A:657 | (117.75, -34.39, -170.10) | |
| 1:236918322 | I>F | A:660 | (120.39, -35.90, -174.58) | |
| 1:236918328 | rs150021739 | R>W | A:662 | (124.40, -30.54, -174.88) |
| 1:236918329 | R>Q | A:662 | (124.40, -30.54, -174.88) | |
| 1:236918347 | rs397516572 | T>R | A:668 | (132.54, -34.04, -187.41) |
| 1:236918364 | COSM1340377 | Q>K | A:674 | (124.11, -37.16, -182.61) |
| 1:236918380 | K>R | A:679 | (123.37, -45.75, -178.43) | |
| 1:236918383 | Q>R | A:680 | (127.91, -42.95, -174.20) | |
| 1:236918413 | rs552938924 | N>S | A:690 | (120.77, -49.70, -159.65) |
| 1:236918418 | I>V | A:692 | (115.79, -45.60, -159.73) | |
| 1:236918421 | COSM77211 COSM1340378 |
D>N | A:693 | (115.21, -50.13, -158.39) |
| 1:236918426 | K>N | A:694 | (118.18, -48.58, -153.92) | |
| 1:236918434 | COSM906083 | G>E | A:697 | (112.41, -49.27, -151.70) |
| 1:236918448 | COSM906084 | I>V | A:702 | (109.33, -44.08, -145.78) |
| 1:236918450 | I>M | A:702 | (109.33, -44.08, -145.78) | |
| 1:236918452 | rs370862426 | Q>L | A:703 | (104.91, -45.28, -147.71) |
| 1:236918473 | rs199535709 | N>S | A:710 | (111.84, -36.18, -146.02) |
| 1:236918482 | T>M | A:713 | (114.60, -34.11, -149.90) | |
| 1:236918491 | rs193922635 COSM906085 |
T>M | A:716 | (109.29, -36.91, -154.12) |
| 1:236920793 | rs546431200 | R>H | A:721 | (108.15, -42.66, -159.66) |
| 1:236920795 | rs372608387 | V>I | A:722 | (108.42, -38.20, -163.92) |
| 1:236920810 | L>V | A:727 | (115.69, -39.80, -169.36) | |
| 1:236920825 | COSM906087 | A>T | A:732 | (114.14, -42.96, -177.63) |
| 1:236920831 | T>A | A:734 | (116.63, -38.46, -179.77) | |
| 1:236920840 | E>K | A:737 | (114.53, -37.68, -183.78) | |
| 1:236920844 | V>E | A:738 | (119.23, -39.43, -185.42) | |
| 1:236920853 | Q>R | A:741 | (118.03, -37.10, -189.47) | |
| 1:236920855 | I>F | A:742 | (121.19, -41.67, -190.90) | |
| 1:236920862 | COSM906088 | T>M | A:744 | (115.96, -38.36, -194.91) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:236911044 | rs200248944 | T>M | A:495 | (91.87, -38.44, -51.84) |
| 1:236914861 | rs200631005 | E>A | A:583 | (99.41, -47.35, -84.24) |
| 1:236917290 | rs786204951 | E>G | A:628 | (108.19, -44.27, -130.10) |
| 1:236917326 | rs772909106 | R>H | A:640 | (119.68, -39.18, -142.79) |
| 1:236920792 | rs149433837 | R>S | A:721 | (108.15, -42.66, -159.66) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:236902618 | COSM4434391 | R>H | A:298 | (67.85, -36.33, 13.06) |
| 1:236902623 | COSM1748244 | T>A | A:300 | (66.19, -32.92, 6.42) |
| 1:236902629 | COSM4512485 | P>S | A:302 | (69.32, -36.71, 4.71) |
| 1:236902782 | COSM4029844 | R>W | A:353 | (64.93, -15.66, 37.98) |
| 1:236902795 | COSM4659144 | R>H | A:357 | (60.30, -24.02, 41.17) |
| 1:236906244 | COSM3485650 | E>K | A:386 | (69.54, -23.78, -5.38) |
| 1:236906269 | COSM2000850 | R>Q | A:394 | (72.80, -23.97, -16.04) |
| 1:236907968 | COSM400978 | S>W | A:433 | (85.73, -38.88, -76.02) |
| 1:236908039 | COSM4233896 | R>C | A:457 | (77.68, -30.57, -43.34) |
| 1:236908040 | COSM1473647 | R>H | A:457 | (77.68, -30.57, -43.34) |
| 1:236912425 | COSM1181734 | R>I | A:506 | (96.41, -40.05, -67.85) |
| 1:236912500 | COSM1668597 | W>L | A:531 | (102.21, -37.76, -106.21) |
| 1:236917289 | COSM4428405 | E>K | A:628 | (108.19, -44.27, -130.10) |
| 1:236917316 | COSM679997 | R>C | A:637 | (117.66, -45.17, -139.41) |
| 1:236918326 | COSM273861 | A>V | A:661 | (120.08, -31.60, -175.48) |
| 1:236918421 | COSM77211 | D>N | A:693 | (115.21, -50.13, -158.39) |
| 1:236920825 | COSM906087 | A>T | A:732 | (114.14, -42.96, -177.63) |