General Structure Information
| PDB ID | 4dqy |
| HGNC Gene Label(s) | PARP1 |
| Structure Name | structure of human parp-1 bound to a dna double strand break |
| Resolution | 3.25Å |
| Reference | AUTH M.F.LANGELIER,J.L.PLANCK,S.ROY,J.M.PASCALTITL STRUCTURAL BASIS FOR DNA DAMAGE-DEPENDENTTITL 2 POLY(ADP-RIBOSYL)ATION BY HUMAN PARP-1.REF SCIENCE V. 336 728 2012REFN ISSN 0036-8075PMID 22582261DOI 10.1126/SCIENCE.1216338 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 456 |
| Number Of SNVs | 106 |
| Number Of Permutations | 63480 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.26 |
| p-value | 0.004 |
COSMIC
| Number Of Residues | 456 |
| Number Of SNVs | 8 |
| Number Of Permutations | 3942 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.107 |
| p-value | 0.237 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 106 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 41.0 |
| K Statistic | 0.296 |
| p-value | 0.247 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:226567278 | D>E | F:536 | (22.95, 65.02, 90.83) | |
| 1:226566960 | rs371066735 | A>V | F:543 | (10.76, 58.89, 89.57) |
| 1:226566961 | rs200485374 | A>T | F:543 | (10.76, 58.89, 89.57) |
| 1:226566948 | E>V | F:547 | (14.08, 47.03, 86.78) | |
| 1:226566940 | G>R | F:550 | (16.48, 42.41, 85.74) | |
| 1:226566928 | S>G | F:554 | (22.06, 51.64, 86.24) | |
| 1:226566907 | D>H | F:561 | (46.08, 56.82, 82.71) | |
| 1:226566904 | rs550415056 | I>V | F:562 | (48.66, 56.10, 86.62) |
| 1:226566895 | G>R | F:565 | (45.86, 60.98, 85.73) | |
| 1:226566882 | Y>F | F:569 | (32.55, 60.66, 87.68) | |
| 1:226566876 | K>R | F:571 | (26.21, 57.72, 87.52) | |
| 1:226566870 | Q>R | F:573 | (20.59, 56.63, 86.00) | |
| 1:226564978 | rs377397890 COSM210185 |
R>H | F:591 | (39.34, 63.73, 88.71) |
| 1:226564979 | COSM904734 COSM904733 |
R>C | F:591 | (39.34, 63.73, 88.71) |
| 1:226564976 | V>L | F:592 | (36.87, 60.65, 91.41) | |
| 1:226564969 | T>M | F:594 | (36.32, 66.42, 92.65) | |
| 1:226564957 | rs374640357 | S>N | F:598 | (28.84, 67.81, 84.64) |
| 1:226564939 | M>T | F:604 | (13.50, 60.83, 76.26) | |
| 1:226564936 | rs369900729 | P>L | F:605 | (10.86, 61.10, 73.17) |
| 1:226564930 | rs146121136 | K>T | F:607 | (9.81, 55.10, 78.08) |
| 1:226564926 | E>D | F:608 | (11.30, 51.42, 73.33) | |
| 1:226564918 | COSM3718983 | I>T | F:611 | (16.13, 51.01, 75.43) |
| 1:226564915 | E>V | F:612 | (17.69, 52.99, 70.95) | |
| 1:226564912 | COSM3484273 | H>R | F:613 | (20.04, 57.80, 74.27) |
| 1:226564913 | H>D | F:613 | (20.04, 57.80, 74.27) | |
| 1:226564908 | F>L | F:614 | (21.07, 53.03, 78.65) | |
| 1:226564910 | F>L | F:614 | (21.07, 53.03, 78.65) | |
| 1:226564907 | rs376654709 COSM1339294 COSM125134 |
M>V | F:615 | (21.38, 50.02, 75.15) |
| 1:226564855 | rs138228205 | T>M | F:632 | (35.79, 42.97, 77.39) |
| 1:226564828 | L>P | F:641 | (32.11, 49.59, 88.56) | |
| 1:226564823 | I>L | F:643 | (26.55, 48.41, 91.86) | |
| 1:226562012 | K>R | F:662 | (12.56, 52.08, 126.43) | |
| 1:226562006 | rs145186011 | K>R | F:664 | (15.43, 45.54, 129.70) |
| 1:226561995 | P>A | F:668 | (28.72, 48.91, 129.80) | |
| 1:226561977 | K>E | F:674 | (26.86, 53.55, 121.32) | |
| 1:226561944 | A>T | F:685 | (38.59, 55.29, 108.94) | |
| 1:226558215 | D>N | F:692 | (34.83, 57.52, 97.28) | |
| 1:226558208 | Q>R | F:694 | (30.78, 61.39, 98.16) | |
| 1:226558205 | K>R | F:695 | (29.72, 57.05, 95.56) | |
| 1:226558194 | G>W | F:699 | (27.30, 51.73, 97.19) | |
| 1:226558178 | R>K | F:704 | (30.86, 38.17, 91.57) | |
| 1:226558179 | R>G | F:704 | (30.86, 38.17, 91.57) | |
| 1:226558169 | Q>R | F:707 | (36.83, 38.20, 95.09) | |
| 1:226558164 | COSM380795 | A>S | F:709 | (40.77, 43.76, 93.96) |
| 1:226556021 | A>V | F:719 | (55.48, 41.69, 90.39) | |
| 1:226556009 | G>D | F:723 | (60.97, 42.53, 88.94) | |
| 1:226556001 | D>N | F:726 | (57.60, 49.48, 85.02) | |
| 1:226555998 | rs369734863 | S>A | F:727 | (53.93, 47.65, 82.26) |
| 1:226555973 | R>H | F:735 | (42.75, 45.80, 86.51) | |
| 1:226555974 | COSM3484269 | R>C | F:735 | (42.75, 45.80, 86.51) |
| 1:226555969 | rs376201473 | F>L | F:736 | (43.09, 48.51, 92.94) |
| 1:226555947 | F>V | F:744 | (43.98, 59.95, 94.60) | |
| 1:226555931 | P>L | F:749 | (47.06, 58.06, 90.68) | |
| 1:226555932 | P>A | F:749 | (47.06, 58.06, 90.68) | |
| 1:226555928 | COSM3785167 | P>L | F:750 | (49.67, 56.24, 93.50) |
| 1:226555919 | N>S | F:753 | (56.05, 50.38, 93.79) | |
| 1:226555906 | rs572288761 | S>R | F:757 | (51.63, 49.37, 98.97) |
| 1:226555902 | Q>E | F:759 | (50.40, 45.33, 103.75) | |
| 1:226555302 | rs1136410 | V>A | F:762 | (44.83, 44.99, 101.77) |
| 1:226555297 | M>V | F:764 | (41.62, 49.51, 101.99) | |
| 1:226555293 | L>P | F:765 | (40.07, 45.77, 100.66) | |
| 1:226555294 | L>F | F:765 | (40.07, 45.77, 100.66) | |
| 1:226555279 | D>N | F:770 | (34.39, 44.41, 108.06) | |
| 1:226555273 | E>K | F:772 | (29.62, 47.29, 103.26) | |
| 1:226555243 | S>A | F:782 | (11.90, 42.97, 112.57) | |
| 1:226555236 | D>G | F:784 | (8.47, 45.75, 115.63) | |
| 1:226555221 | rs139753887 | P>L | F:789 | (16.95, 50.46, 119.55) |
| 1:226555216 | rs374662166 | D>N | F:791 | (18.12, 45.42, 122.46) |
| 1:226555203 | E>A | F:795 | (18.97, 40.62, 119.24) | |
| 1:226555198 | L>I | F:797 | (26.23, 41.04, 117.57) | |
| 1:226555194 | K>R | F:798 | (24.34, 35.99, 116.34) | |
| 1:226553743 | R>T | F:806 | (37.80, 46.67, 139.16) | |
| 1:226553735 | E>K | F:809 | (39.00, 37.13, 142.39) | |
| 1:226553726 | E>K | F:812 | (42.23, 40.46, 140.25) | |
| 1:226553720 | rs200630156 | I>V | F:814 | (42.39, 40.11, 132.69) |
| 1:226553716 | rs370284028 | R>K | F:815 | (42.72, 44.03, 136.22) |
| 1:226553717 | R>G | F:815 | (42.72, 44.03, 136.22) | |
| 1:226553710 | Y>C | F:817 | (47.69, 38.48, 130.11) | |
| 1:226553703 | K>N | F:819 | (50.50, 45.42, 135.22) | |
| 1:226553692 | A>G | F:823 | (56.27, 46.09, 125.86) | |
| 1:226553690 | rs149375401 | T>A | F:824 | (60.30, 47.00, 126.61) |
| 1:226553659 | I>T | F:834 | (37.79, 51.07, 130.70) | |
| 1:226552853 | I>M | F:836 | (36.53, 43.09, 131.54) | |
| 1:226552854 | I>T | F:836 | (36.53, 43.09, 131.54) | |
| 1:226552843 | E>Q | F:840 | (29.53, 32.69, 124.58) | |
| 1:226552839 | R>H | F:841 | (30.38, 33.43, 118.53) | |
| 1:226552834 | rs557105429 | G>S | F:843 | (28.35, 28.06, 118.50) |
| 1:226552825 | rs186612310 | Q>K | F:846 | (28.43, 22.85, 119.14) |
| 1:226552821 | rs182639036 | R>H | F:847 | (33.42, 26.36, 115.95) |
| 1:226552822 | COSM4028704 | R>C | F:847 | (33.42, 26.36, 115.95) |
| 1:226552807 | K>E | F:852 | (38.03, 21.46, 125.10) | |
| 1:226552803 | Q>R | F:853 | (39.46, 16.54, 123.47) | |
| 1:226552791 | rs190105316 | R>Q | F:857 | (43.71, 23.98, 126.15) |
| 1:226552767 | R>K | F:865 | (40.79, 49.31, 112.52) | |
| 1:226552758 | N>S | F:868 | (37.06, 44.80, 112.38) | |
| 1:226552729 | COSM3385796 | R>W | F:878 | (36.96, 36.45, 109.90) |
| 1:226552716 | rs11541664 COSM1668519 |
P>R | F:882 | (41.81, 32.96, 98.98) |
| 1:226552705 | V>M | F:886 | (50.89, 36.75, 101.76) | |
| 1:226551704 | rs149314007 | H>R | F:909 | (45.20, 51.01, 114.29) |
| 1:226551689 | rs187041817 | D>G | F:914 | (40.43, 57.28, 119.05) |
| 1:226550859 | rs189410139 | Y>C | F:930 | (56.30, 24.17, 112.49) |
| 1:226550838 | H>R | F:937 | (55.36, 33.10, 103.41) | |
| 1:226550828 | K>N | F:940 | (50.62, 21.47, 103.76) | |
| 1:226550820 | K>R | F:943 | (51.98, 14.78, 109.73) | |
| 1:226550814 | K>R | F:945 | (52.49, 19.81, 113.72) | |
| 1:226550811 | H>R | F:946 | (47.52, 20.47, 115.56) | |
| 1:226550808 | S>N | F:947 | (50.09, 25.02, 115.33) | |
| 1:226549769 | T>N | F:955 | (59.02, 34.81, 126.97) | |
| 1:226549766 | P>L | F:956 | (56.06, 35.12, 128.86) | |
| 1:226549767 | rs78381515 | P>S | F:956 | (56.06, 35.12, 128.86) |
| 1:226549761 | COSM1339290 | P>S | F:958 | (57.72, 29.97, 131.79) |
| 1:226549758 | S>A | F:959 | (57.88, 29.92, 136.00) | |
| 1:226549745 | S>N | F:963 | (45.34, 28.43, 135.12) | |
| 1:226549736 | G>D | F:966 | (41.81, 24.99, 131.55) | |
| 1:226549728 | V>I | F:969 | (47.28, 32.38, 131.46) | |
| 1:226549712 | G>V | F:974 | (60.01, 39.22, 130.66) | |
| 1:226549713 | COSM378915 | G>R | F:974 | (60.01, 39.22, 130.66) |
| 1:226549695 | N>H | F:980 | (68.59, 34.32, 120.72) | |
| 1:226549184 | N>D | F:1008 | (47.68, 57.14, 128.38) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:226564946 | COSM1668520 | E>Q | F:602 | (17.94, 64.39, 78.04) |
| 1:226564905 | COSM78264 | M>I | F:615 | (21.38, 50.02, 75.15) |
| 1:226564906 | COSM1339293 | M>T | F:615 | (21.38, 50.02, 75.15) |
| 1:226564907 | COSM1339294 | M>V | F:615 | (21.38, 50.02, 75.15) |
| 1:226564877 | COSM904732 | A>T | F:625 | (26.90, 45.28, 75.28) |
| 1:226564855 | COSM1219296 | T>M | F:632 | (35.79, 42.97, 77.39) |
| 1:226561965 | COSM425451 | D>H | F:678 | (29.40, 54.88, 114.93) |
| 1:226558164 | COSM380795 | A>T | F:709 | (40.77, 43.76, 93.96) |
| 1:226555302 | COSM3997295 | V>A | F:762 | (44.83, 44.99, 101.77) |
| 1:226552729 | COSM3385796 | R>W | F:878 | (36.96, 36.45, 109.90) |