##gff-version 3 ##sequence-region P38398 1 1863 P38398 UniProtKB Chain 1 1863 . . . ID=PRO_0000055830;Note=Breast cancer type 1 susceptibility protein P38398 UniProtKB Domain 1642 1736 . . . Note=BRCT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00033 P38398 UniProtKB Domain 1756 1855 . . . Note=BRCT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00033 P38398 UniProtKB Zinc finger 24 65 . . . Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 P38398 UniProtKB Region 230 270 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 306 338 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 534 570 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 654 709 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 1181 1216 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 1322 1387 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 1397 1424 . . . Note=Interaction with PALB2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19369211;Dbxref=PMID:19369211 P38398 UniProtKB Region 1440 1505 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Region 1565 1596 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 230 248 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 324 338 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 534 569 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 676 698 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 1181 1196 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 1338 1353 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 1354 1387 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 1440 1468 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Compositional bias 1478 1492 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P38398 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 P38398 UniProtKB Modified residue 114 114 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 P38398 UniProtKB Modified residue 395 395 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 P38398 UniProtKB Modified residue 398 398 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332 P38398 UniProtKB Modified residue 423 423 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P38398 UniProtKB Modified residue 434 434 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 551 551 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 694 694 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 P38398 UniProtKB Modified residue 708 708 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 725 725 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48754 P38398 UniProtKB Modified residue 753 753 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P38398 UniProtKB Modified residue 840 840 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48754 P38398 UniProtKB Modified residue 988 988 . . . Note=Phosphoserine%3B by CHEK2;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10724175,ECO:0000269|PubMed:20364141;Dbxref=PMID:10724175,PMID:20364141 P38398 UniProtKB Modified residue 1009 1009 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 1143 1143 . . . Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1189 1189 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 1191 1191 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Modified residue 1211 1211 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P38398 UniProtKB Modified residue 1217 1217 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P38398 UniProtKB Modified residue 1218 1218 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692 P38398 UniProtKB Modified residue 1280 1280 . . . Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1328 1328 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P38398 UniProtKB Modified residue 1336 1336 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692 P38398 UniProtKB Modified residue 1342 1342 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 P38398 UniProtKB Modified residue 1387 1387 . . . Note=Phosphoserine%3B by ATM and ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1394 1394 . . . Note=Phosphothreonine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1423 1423 . . . Note=Phosphoserine%3B by ATM and ATR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1457 1457 . . . Note=Phosphoserine%3B by ATR%3B in vitro;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Modified residue 1524 1524 . . . Note=Phosphoserine%3B by ATM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21144835;Dbxref=PMID:21144835 P38398 UniProtKB Modified residue 1542 1542 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P38398 UniProtKB Cross-link 109 109 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Cross-link 301 301 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Cross-link 339 339 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 P38398 UniProtKB Cross-link 443 443 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 P38398 UniProtKB Cross-link 459 459 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 P38398 UniProtKB Cross-link 519 519 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Cross-link 583 583 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:25755297,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 P38398 UniProtKB Cross-link 654 654 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25218447;Dbxref=PMID:25218447 P38398 UniProtKB Cross-link 734 734 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25218447;Dbxref=PMID:25218447 P38398 UniProtKB Cross-link 739 739 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25218447;Dbxref=PMID:25218447 P38398 UniProtKB Cross-link 918 918 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Cross-link 987 987 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Cross-link 1079 1079 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 P38398 UniProtKB Alternative sequence 1 47 . . . ID=VSP_057569;Note=In isoform 8. Missing P38398 UniProtKB Alternative sequence 1 17 . . . ID=VSP_035396;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Alternative sequence 64 1863 . . . ID=VSP_047891;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 P38398 UniProtKB Alternative sequence 224 1365 . . . ID=VSP_035398;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Alternative sequence 264 1366 . . . ID=VSP_035399;Note=In isoform 3 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9010228;Dbxref=PMID:15489334,PMID:9010228 P38398 UniProtKB Alternative sequence 1453 1453 . . . ID=VSP_043797;Note=In isoform 3 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9010228;Dbxref=PMID:15489334,PMID:9010228 P38398 UniProtKB Alternative sequence 1453 1453 . . . ID=VSP_055404;Note=In isoform 7. A->DSHIHGQRNNSMFSKRPREHIS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P38398 UniProtKB Alternative sequence 1778 1863 . . . ID=VSP_043798;Note=In isoform 6. DQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY->GCPPNCGCAARCLDRGQWLPCNWADV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P38398 UniProtKB Natural variant 4 4 . . . ID=VAR_070458;Note=In BC%3B uncertain significance. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs786203152,PMID:23867111 P38398 UniProtKB Natural variant 10 10 . . . ID=VAR_020679;Note=In BC and BROVCA1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 11 11 . . . ID=VAR_007754;Note=Found in breast-ovarian cancer patients%3B uncertain significance. V->A;Dbxref=dbSNP:rs80357017 P38398 UniProtKB Natural variant 18 18 . . . ID=VAR_063899;Note=In BC%3B uncertain significance. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356929,PMID:17924331,PMID:23867111 P38398 UniProtKB Natural variant 21 21 . . . ID=VAR_007755;Note=Found in breast-ovarian cancer patients%3B uncertain significance. I->V;Dbxref=dbSNP:rs80357406 P38398 UniProtKB Natural variant 22 22 . . . ID=VAR_007756;Note=In BC. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs80357438,PMID:9609997 P38398 UniProtKB Natural variant 23 23 . . . ID=VAR_020680;Note=In BC and BROVCA1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 30 30 . . . ID=VAR_035947;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 P38398 UniProtKB Natural variant 45 45 . . . ID=VAR_070459;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs769650474,PMID:23867111 P38398 UniProtKB Natural variant 61 61 . . . ID=VAR_007757;Note=In BC and ovarian cancer%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12938098,ECO:0000269|PubMed:14746861,ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:7894493,ECO:0000269|PubMed:8554067,ECO:0000269|PubMed:9528852,ECO:0000269|PubMed:9760198;Dbxref=dbSNP:rs28897672,PMID:12938098,PMID:14746861,PMID:23867111,PMID:7894493,PMID:8554067,PMID:9528852,PMID:9760198 P38398 UniProtKB Natural variant 64 64 . . . ID=VAR_007758;Note=In BC%3B no interaction with BAP1. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:7894491,ECO:0000269|PubMed:9482581,ECO:0000269|PubMed:9528852;Dbxref=dbSNP:rs80357064,PMID:23867111,PMID:7894491,PMID:9482581,PMID:9528852 P38398 UniProtKB Natural variant 64 64 . . . ID=VAR_007759;Note=C->Y;Dbxref=dbSNP:rs55851803 P38398 UniProtKB Natural variant 67 67 . . . ID=VAR_070460;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357102,PMID:23867111 P38398 UniProtKB Natural variant 71 71 . . . ID=VAR_020681;Note=In BC%3B uncertain significance. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs80356913,PMID:12938098 P38398 UniProtKB Natural variant 105 105 . . . ID=VAR_070461;Note=Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897673,PMID:23867111 P38398 UniProtKB Natural variant 132 132 . . . ID=VAR_070462;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357413,PMID:23867111 P38398 UniProtKB Natural variant 142 142 . . . ID=VAR_070463;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs55971303,PMID:23867111 P38398 UniProtKB Natural variant 147 147 . . . ID=VAR_070464;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs748876625,PMID:23867111 P38398 UniProtKB Natural variant 153 153 . . . ID=VAR_052077;Note=S->R;Dbxref=dbSNP:rs28897674 P38398 UniProtKB Natural variant 165 165 . . . ID=VAR_070465;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 170 170 . . . ID=VAR_070466;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357325,PMID:23867111 P38398 UniProtKB Natural variant 186 186 . . . ID=VAR_070467;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs55688530,PMID:23867111 P38398 UniProtKB Natural variant 191 191 . . . ID=VAR_070468;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357090,PMID:23867111 P38398 UniProtKB Natural variant 227 227 . . . ID=VAR_008759;Note=In ovarian cancer%3B uncertain significance. E->K P38398 UniProtKB Natural variant 231 231 . . . ID=VAR_070469;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357001,PMID:23867111 P38398 UniProtKB Natural variant 239 239 . . . ID=VAR_007760;Note=H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9010228,ECO:0000269|PubMed:9760198;Dbxref=dbSNP:rs80357396,PMID:9010228,PMID:9760198 P38398 UniProtKB Natural variant 245 245 . . . ID=VAR_070470;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356865,PMID:23867111 P38398 UniProtKB Natural variant 246 246 . . . ID=VAR_070471;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897675,PMID:23867111 P38398 UniProtKB Natural variant 271 271 . . . ID=VAR_070472;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357244,PMID:23867111 P38398 UniProtKB Natural variant 271 271 . . . ID=VAR_007761;Note=In BC. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8723683;Dbxref=dbSNP:rs80357244,PMID:8723683 P38398 UniProtKB Natural variant 275 275 . . . ID=VAR_019944;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.6;Dbxref=dbSNP:rs8176153 P38398 UniProtKB Natural variant 346 346 . . . ID=VAR_008760;Note=In BC%3B uncertain significance. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10323242;Dbxref=dbSNP:rs80357015,PMID:10323242 P38398 UniProtKB Natural variant 356 356 . . . ID=VAR_007762;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7894493,ECO:0000269|Ref.5,ECO:0000269|Ref.6;Dbxref=dbSNP:rs1799950,PMID:7894493 P38398 UniProtKB Natural variant 369 369 . . . ID=VAR_007763;Note=In BC. Missing;Dbxref=dbSNP:rs80358325 P38398 UniProtKB Natural variant 379 379 . . . ID=VAR_007764;Note=I->M;Dbxref=dbSNP:rs56128296 P38398 UniProtKB Natural variant 461 461 . . . ID=VAR_007765;Note=In BC. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs56046357,PMID:9609997 P38398 UniProtKB Natural variant 465 465 . . . ID=VAR_007766;Note=In BC. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397508869,PMID:9609997 P38398 UniProtKB Natural variant 507 507 . . . ID=VAR_007767;Note=Found in breast-ovarian cancer patients%3B uncertain significance. R->I;Dbxref=dbSNP:rs80357224 P38398 UniProtKB Natural variant 552 552 . . . ID=VAR_007768;Note=In BC. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397508893,PMID:9609997 P38398 UniProtKB Natural variant 656 656 . . . ID=VAR_020682;Note=N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12442274;Dbxref=PMID:12442274 P38398 UniProtKB Natural variant 668 668 . . . ID=VAR_070473;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357250,PMID:23867111 P38398 UniProtKB Natural variant 693 693 . . . ID=VAR_007769;Note=D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15026808,ECO:0000269|Ref.6;Dbxref=dbSNP:rs4986850,PMID:15026808 P38398 UniProtKB Natural variant 695 695 . . . ID=VAR_070474;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897681,PMID:23867111 P38398 UniProtKB Natural variant 723 723 . . . ID=VAR_020110;Note=N->D;Dbxref=dbSNP:rs4986845 P38398 UniProtKB Natural variant 749 749 . . . ID=VAR_020683;Note=In BC. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12442275;Dbxref=dbSNP:rs80357114,PMID:12442275 P38398 UniProtKB Natural variant 758 758 . . . ID=VAR_035948;Note=In a breast cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 P38398 UniProtKB Natural variant 772 772 . . . ID=VAR_007770;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7894491,ECO:0000269|PubMed:9482581;Dbxref=dbSNP:rs80357467,PMID:7894491,PMID:9482581 P38398 UniProtKB Natural variant 778 778 . . . ID=VAR_035949;Note=In a breast cancer sample%3B somatic mutation. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 P38398 UniProtKB Natural variant 798 798 . . . ID=VAR_070475;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs876660005,PMID:23867111 P38398 UniProtKB Natural variant 810 810 . . . ID=VAR_070476;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897682,PMID:23867111 P38398 UniProtKB Natural variant 820 820 . . . ID=VAR_007771;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9482581;Dbxref=dbSNP:rs56082113,PMID:9482581 P38398 UniProtKB Natural variant 826 826 . . . ID=VAR_007772;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897683,PMID:23867111 P38398 UniProtKB Natural variant 835 835 . . . ID=VAR_020684;Note=In BROVCA1%3B uncertain significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs751656678,PMID:12938098 P38398 UniProtKB Natural variant 841 841 . . . ID=VAR_070477;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357337,PMID:23867111 P38398 UniProtKB Natural variant 841 841 . . . ID=VAR_007773;Note=In BROVCA1%3B uncertain significance. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8968716,ECO:0000269|PubMed:9760198;Dbxref=dbSNP:rs1800709,PMID:8968716,PMID:9760198 P38398 UniProtKB Natural variant 856 856 . . . ID=VAR_020685;Note=In a patient with sporadic breast cancer%3B uncertain significance. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15365993,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356892,PMID:15365993,PMID:23867111 P38398 UniProtKB Natural variant 866 866 . . . ID=VAR_070478;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs41286300,PMID:23867111 P38398 UniProtKB Natural variant 866 866 . . . ID=VAR_020686;Note=In BC%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=PMID:12938098 P38398 UniProtKB Natural variant 871 871 . . . ID=VAR_007774;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10323242,ECO:0000269|PubMed:12442274,ECO:0000269|PubMed:15365993,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.6;Dbxref=dbSNP:rs799917,PMID:10323242,PMID:12442274,PMID:15365993,PMID:15489334 P38398 UniProtKB Natural variant 888 888 . . . ID=VAR_020687;Note=In BC%3B uncertain significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs80357480,PMID:12938098 P38398 UniProtKB Natural variant 892 892 . . . ID=VAR_007775;Note=In BC. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397508994,PMID:9609997 P38398 UniProtKB Natural variant 903 1863 . . . ID=VAR_080693;Note=In FANCS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29133208;Dbxref=PMID:29133208 P38398 UniProtKB Natural variant 925 925 . . . ID=VAR_021913;Note=I->L;Dbxref=dbSNP:rs4986847 P38398 UniProtKB Natural variant 960 960 . . . ID=VAR_007776;Note=In BC. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397509022,PMID:9609997 P38398 UniProtKB Natural variant 989 989 . . . ID=VAR_020111;Note=F->S;Dbxref=dbSNP:rs4986848 P38398 UniProtKB Natural variant 1008 1008 . . . ID=VAR_007777;Note=M->I;Dbxref=dbSNP:rs1800704 P38398 UniProtKB Natural variant 1025 1025 . . . ID=VAR_007778;Note=In BC. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397509034,PMID:9609997 P38398 UniProtKB Natural variant 1038 1038 . . . ID=VAR_007779;Note=E->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10323242,ECO:0000269|PubMed:15365993,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7894493,ECO:0000269|Ref.6;Dbxref=dbSNP:rs16941,PMID:10323242,PMID:15365993,PMID:15489334,PMID:7894493 P38398 UniProtKB Natural variant 1040 1040 . . . ID=VAR_007780;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15026808,ECO:0000269|PubMed:7894491,ECO:0000269|PubMed:7894493,ECO:0000269|PubMed:9482581,ECO:0000269|Ref.6;Dbxref=dbSNP:rs4986852,PMID:15026808,PMID:7894491,PMID:7894493,PMID:9482581 P38398 UniProtKB Natural variant 1047 1047 . . . ID=VAR_007781;Note=In BC. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9609997;Dbxref=dbSNP:rs397509037,PMID:9609997 P38398 UniProtKB Natural variant 1060 1060 . . . ID=VAR_020688;Note=E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15026808,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357184,PMID:15026808,PMID:23867111 P38398 UniProtKB Natural variant 1101 1101 . . . ID=VAR_070479;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs41293447,PMID:23867111 P38398 UniProtKB Natural variant 1139 1139 . . . ID=VAR_020689;Note=In BC%3B uncertain significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs80357228,PMID:12938098 P38398 UniProtKB Natural variant 1140 1140 . . . ID=VAR_019945;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23867111,ECO:0000269|Ref.6;Dbxref=dbSNP:rs2227945,PMID:23867111 P38398 UniProtKB Natural variant 1140 1140 . . . ID=VAR_070480;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 1150 1150 . . . ID=VAR_007782;Note=In BC. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8723683;Dbxref=dbSNP:rs80357272,PMID:8723683 P38398 UniProtKB Natural variant 1183 1183 . . . ID=VAR_007783;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10323242,ECO:0000269|PubMed:14722926,ECO:0000269|PubMed:15365993,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7894493,ECO:0000269|Ref.6;Dbxref=dbSNP:rs16942,PMID:10323242,PMID:14722926,PMID:15365993,PMID:15489334,PMID:7894493 P38398 UniProtKB Natural variant 1187 1187 . . . ID=VAR_020690;Note=In BC and BROVCA1. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1200 1200 . . . ID=VAR_020691;Note=In BC and BROVCA1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=dbSNP:rs56214134,PMID:14722926 P38398 UniProtKB Natural variant 1204 1204 . . . ID=VAR_020692;Note=In BC. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1207 1207 . . . ID=VAR_020693;Note=In BC. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1210 1210 . . . ID=VAR_020694;Note=In BC%3B uncertain significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs1060502347,PMID:12938098 P38398 UniProtKB Natural variant 1214 1214 . . . ID=VAR_070481;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356923,PMID:23867111 P38398 UniProtKB Natural variant 1217 1217 . . . ID=VAR_020695;Note=In BC and BROVCA1. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1219 1219 . . . ID=VAR_007784;Note=Found in breast-ovarian cancer patients%3B uncertain significance. E->D;Dbxref=dbSNP:rs80356876 P38398 UniProtKB Natural variant 1226 1226 . . . ID=VAR_020696;Note=In BROVCA1. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1236 1236 . . . ID=VAR_052078;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897687,PMID:23867111 P38398 UniProtKB Natural variant 1243 1243 . . . ID=VAR_020697;Note=In BROVCA1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14722926;Dbxref=PMID:14722926 P38398 UniProtKB Natural variant 1250 1250 . . . ID=VAR_052079;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897686,PMID:23867111 P38398 UniProtKB Natural variant 1267 1267 . . . ID=VAR_070482;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs587782190,PMID:23867111 P38398 UniProtKB Natural variant 1282 1282 . . . ID=VAR_070483;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357217,PMID:23867111 P38398 UniProtKB Natural variant 1297 1297 . . . ID=VAR_020698;Note=In BC%3B uncertain significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs1450793674,PMID:12938098 P38398 UniProtKB Natural variant 1297 1297 . . . ID=VAR_070484;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 1301 1301 . . . ID=VAR_070485;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs273900719,PMID:23867111 P38398 UniProtKB Natural variant 1346 1346 . . . ID=VAR_070486;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357407,PMID:23867111 P38398 UniProtKB Natural variant 1347 1347 . . . ID=VAR_007785;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12215251;Dbxref=dbSNP:rs28897689,PMID:12215251 P38398 UniProtKB Natural variant 1378 1378 . . . ID=VAR_070487;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs28897690,PMID:23867111 P38398 UniProtKB Natural variant 1400 1400 . . . ID=VAR_070488;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357306,PMID:23867111 P38398 UniProtKB Natural variant 1406 1406 . . . ID=VAR_008761;Note=K->N;Dbxref=dbSNP:rs1800707 P38398 UniProtKB Natural variant 1407 1407 . . . ID=VAR_070489;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357492,PMID:23867111 P38398 UniProtKB Natural variant 1411 1411 . . . ID=VAR_020699;Note=In BC and ovarian cancer%3B uncertain significance%3B decreased interaction with PALB2. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14746861,ECO:0000269|PubMed:19369211,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs273900729,PMID:14746861,PMID:19369211,PMID:23867111 P38398 UniProtKB Natural variant 1431 1431 . . . ID=VAR_007786;Note=S->P P38398 UniProtKB Natural variant 1443 1443 . . . ID=VAR_007787;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. R->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:7894491,ECO:0000269|PubMed:9482581;Dbxref=dbSNP:rs41293455,PMID:23867111,PMID:7894491,PMID:9482581 P38398 UniProtKB Natural variant 1443 1443 . . . ID=VAR_020112;Note=R->Q;Dbxref=dbSNP:rs4986849 P38398 UniProtKB Natural variant 1448 1448 . . . ID=VAR_070490;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357486,PMID:23867111 P38398 UniProtKB Natural variant 1486 1486 . . . ID=VAR_070491;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs397507232,PMID:23867111 P38398 UniProtKB Natural variant 1495 1495 . . . ID=VAR_063900;Note=In BC%3B uncertain significance. R->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80357389,PMID:17924331 P38398 UniProtKB Natural variant 1512 1512 . . . ID=VAR_007788;Note=S->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12215251,ECO:0000269|PubMed:9482581,ECO:0000269|PubMed:9760198;Dbxref=dbSNP:rs1800744,PMID:12215251,PMID:9482581,PMID:9760198 P38398 UniProtKB Natural variant 1534 1534 . . . ID=VAR_070492;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs55815649,PMID:23867111 P38398 UniProtKB Natural variant 1561 1561 . . . ID=VAR_007789;Note=Found in breast cancer%3B uncertain significance. T->I;Dbxref=dbSNP:rs56158747 P38398 UniProtKB Natural variant 1589 1589 . . . ID=VAR_070493;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 1606 1606 . . . ID=VAR_007790;Note=Found in breast cancer%3B uncertain significance. K->E;Dbxref=dbSNP:rs80356943 P38398 UniProtKB Natural variant 1613 1613 . . . ID=VAR_007791;Note=S->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10323242,ECO:0000269|PubMed:12442274,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7894493,ECO:0000269|PubMed:9010228,ECO:0000269|Ref.6;Dbxref=dbSNP:rs1799966,PMID:10323242,PMID:12442274,PMID:15489334,PMID:7894493,PMID:9010228 P38398 UniProtKB Natural variant 1620 1620 . . . ID=VAR_019946;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.6;Dbxref=dbSNP:rs8176219 P38398 UniProtKB Natural variant 1623 1623 . . . ID=VAR_063901;Note=In BROVCA1%3B major splicing aberration identified with this mutant. A->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:20513136;Dbxref=dbSNP:rs80356862,PMID:17924331,PMID:20513136 P38398 UniProtKB Natural variant 1628 1628 . . . ID=VAR_007793;Note=In some patients with sporadic breast cancer%3B uncertain significance. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15365993,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs4986854,PMID:15365993,PMID:23867111 P38398 UniProtKB Natural variant 1628 1628 . . . ID=VAR_007792;Note=Found in breast and ovarian cancer patients%3B uncertain significance. M->V;Dbxref=dbSNP:rs80357465 P38398 UniProtKB Natural variant 1637 1637 . . . ID=VAR_007794;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7939630,ECO:0000269|PubMed:9482581;Dbxref=dbSNP:rs80357048,PMID:7939630,PMID:9482581 P38398 UniProtKB Natural variant 1641 1641 . . . ID=VAR_008762;Note=In ovarian cancer%3B uncertain significance. A->P;Dbxref=dbSNP:rs1800726 P38398 UniProtKB Natural variant 1651 1651 . . . ID=VAR_070494;Note=In BC%3B uncertain significance. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356938,PMID:23867111 P38398 UniProtKB Natural variant 1651 1651 . . . ID=VAR_070495;Note=In BC%3B uncertain significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs879254042,PMID:23867111 P38398 UniProtKB Natural variant 1652 1652 . . . ID=VAR_007795;Note=M->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12215251,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:9482581;Dbxref=dbSNP:rs1799967,PMID:12215251,PMID:15489334,PMID:23867111,PMID:9482581 P38398 UniProtKB Natural variant 1655 1655 . . . ID=VAR_070496;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357390,PMID:23867111 P38398 UniProtKB Natural variant 1662 1662 . . . ID=VAR_052080;Note=F->C;Dbxref=dbSNP:rs28897695 P38398 UniProtKB Natural variant 1665 1665 . . . ID=VAR_020700;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15026808;Dbxref=dbSNP:rs80357169,PMID:15026808 P38398 UniProtKB Natural variant 1685 1685 . . . ID=VAR_063902;Note=In BC%3B uncertain significance. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80356890,PMID:17924331 P38398 UniProtKB Natural variant 1685 1685 . . . ID=VAR_063903;Note=Probable risk factor for cancer%3B multifactorial likelihood analysis provides evidence for oncogenicity. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:20513136;Dbxref=PMID:17924331,PMID:20513136 P38398 UniProtKB Natural variant 1686 1686 . . . ID=VAR_070497;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs397509218,PMID:23867111 P38398 UniProtKB Natural variant 1686 1686 . . . ID=VAR_070498;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs730882166,PMID:23867111 P38398 UniProtKB Natural variant 1688 1688 . . . ID=VAR_070499;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80358344,PMID:23867111 P38398 UniProtKB Natural variant 1689 1689 . . . ID=VAR_063904;Note=In BC%3B uncertain significance. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80357061,PMID:17924331 P38398 UniProtKB Natural variant 1690 1690 . . . ID=VAR_020701;Note=In some patients with sporadic breast cancer%3B uncertain significance. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15365993;Dbxref=dbSNP:rs397507239,PMID:15365993 P38398 UniProtKB Natural variant 1691 1691 . . . ID=VAR_070500;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357034,PMID:23867111 P38398 UniProtKB Natural variant 1692 1692 . . . ID=VAR_008763;Note=In ovarian cancer%3B uncertain significance. D->N;Dbxref=dbSNP:rs80187739 P38398 UniProtKB Natural variant 1697 1697 . . . ID=VAR_020702;Note=In ovarian cancer. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14746861;Dbxref=dbSNP:rs80356993,PMID:14746861 P38398 UniProtKB Natural variant 1699 1699 . . . ID=VAR_070501;Note=In BC%3B uncertain significance%3B strongly reduces affinity for a BRIP1 phosphopeptide%3B functionally impaired in vitro. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21473589,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs41293459,PMID:21473589,PMID:23867111 P38398 UniProtKB Natural variant 1699 1699 . . . ID=VAR_075666;Note=In BC%2C ovarian cancer and FANCS%3B impairs protein stability%3B functionally impaired in vitro. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14746861,ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:21473589,ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:25472942;Dbxref=dbSNP:rs55770810,PMID:14746861,PMID:17924331,PMID:21473589,PMID:23867111,PMID:25472942 P38398 UniProtKB Natural variant 1706 1706 . . . ID=VAR_070502;Note=In BC%3B uncertain significance. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356860,PMID:23867111 P38398 UniProtKB Natural variant 1706 1706 . . . ID=VAR_063905;Note=In BC%3B uncertain significance. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356860,PMID:17924331,PMID:23867111 P38398 UniProtKB Natural variant 1708 1708 . . . ID=VAR_007796;Note=In BC%3B abolishes ACACA binding. A->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:23867111,ECO:0000269|PubMed:7939630;Dbxref=dbSNP:rs28897696,PMID:17924331,PMID:23867111,PMID:7939630 P38398 UniProtKB Natural variant 1713 1713 . . . ID=VAR_007797;Note=V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15365993;Dbxref=PMID:15365993 P38398 UniProtKB Natural variant 1715 1715 . . . ID=VAR_063906;Note=In BC%3B uncertain significance. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80357094,PMID:17924331 P38398 UniProtKB Natural variant 1718 1718 . . . ID=VAR_070503;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357239,PMID:23867111 P38398 UniProtKB Natural variant 1720 1720 . . . ID=VAR_070504;Note=In BC%3B uncertain significance%3B functionally neutral in vitro%3B no effect on in vitro phosphorylation by ATR. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11114888,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs56195342,PMID:11114888,PMID:23867111 P38398 UniProtKB Natural variant 1735 1735 . . . ID=VAR_070505;Note=In BC%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs397509238,PMID:23867111 P38398 UniProtKB Natural variant 1736 1736 . . . ID=VAR_070506;Note=In BC and FANCS%3B uncertain significance%3B Decreased localization to DNA damage sites and reduced interaction with UIMC1/RAP80. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23269703,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs45553935,PMID:23269703,PMID:23867111 P38398 UniProtKB Natural variant 1738 1738 . . . ID=VAR_063907;Note=In BC%3B uncertain significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80356937,PMID:17924331 P38398 UniProtKB Natural variant 1739 1739 . . . ID=VAR_070507;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357227,PMID:23867111 P38398 UniProtKB Natural variant 1739 1739 . . . ID=VAR_070508;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357227,PMID:23867111 P38398 UniProtKB Natural variant 1746 1746 . . . ID=VAR_070509;Note=In BC%3B uncertain significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs786202389,PMID:23867111 P38398 UniProtKB Natural variant 1749 1749 . . . ID=VAR_007798;Note=In ovarian cancer%3B uncertain significance%3B abolishes ACACA binding and strongly reduces BRIP1 binding. P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10486320,ECO:0000269|PubMed:11301010,ECO:0000269|PubMed:15133502;Dbxref=dbSNP:rs80357462,PMID:10486320,PMID:11301010,PMID:15133502 P38398 UniProtKB Natural variant 1753 1753 . . . ID=VAR_070510;Note=In BC%3B uncertain significance. R->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs397509246,PMID:23867111 P38398 UniProtKB Natural variant 1764 1764 . . . ID=VAR_063908;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17924331,ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357281,PMID:17924331,PMID:23867111 P38398 UniProtKB Natural variant 1766 1766 . . . ID=VAR_063909;Note=In BC%3B uncertain significance. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80357463,PMID:17924331 P38398 UniProtKB Natural variant 1767 1767 . . . ID=VAR_070511;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs1597804426,PMID:23867111 P38398 UniProtKB Natural variant 1770 1770 . . . ID=VAR_070512;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs863224765,PMID:23867111 P38398 UniProtKB Natural variant 1775 1775 . . . ID=VAR_063212;Note=In BC%3B strongly reduced transcription transactivation%3B abolishes interaction with BRIP1 and RBBP8. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18285836;Dbxref=dbSNP:rs41293463,PMID:18285836 P38398 UniProtKB Natural variant 1775 1775 . . . ID=VAR_007799;Note=In BC%3B alters protein stability and abolishes ACACA and BRIP1 binding. M->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11301010,ECO:0000269|PubMed:12427738,ECO:0000269|PubMed:15133502,ECO:0000269|PubMed:7545954,ECO:0000269|PubMed:7939630;Dbxref=dbSNP:rs41293463,PMID:11301010,PMID:12427738,PMID:15133502,PMID:7545954,PMID:7939630 P38398 UniProtKB Natural variant 1776 1776 . . . ID=VAR_008764;Note=In ovarian cancer%3B uncertain significance. P->S;Dbxref=dbSNP:rs1800757 P38398 UniProtKB Natural variant 1780 1780 . . . ID=VAR_079607;Note=In BC%2C BROVCA1 and OC%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28364669;Dbxref=dbSNP:rs80357474,PMID:28364669 P38398 UniProtKB Natural variant 1782 1782 . . . ID=VAR_070513;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 1786 1786 . . . ID=VAR_020704;Note=In BROVCA1%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12938098;Dbxref=dbSNP:rs398122697,PMID:12938098 P38398 UniProtKB Natural variant 1788 1788 . . . ID=VAR_063910;Note=In BC%3B uncertain significance. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17924331;Dbxref=dbSNP:rs80357069,PMID:17924331 P38398 UniProtKB Natural variant 1789 1789 . . . ID=VAR_070514;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357078,PMID:23867111 P38398 UniProtKB Natural variant 1794 1794 . . . ID=VAR_070515;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs397509275,PMID:23867111 P38398 UniProtKB Natural variant 1804 1804 . . . ID=VAR_070516;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356920,PMID:23867111 P38398 UniProtKB Natural variant 1812 1812 . . . ID=VAR_070517;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=PMID:23867111 P38398 UniProtKB Natural variant 1812 1812 . . . ID=VAR_008765;Note=In ovarian cancer%3B uncertain significance. P->S;Dbxref=dbSNP:rs1800751 P38398 UniProtKB Natural variant 1837 1837 . . . ID=VAR_070518;Note=In BC%3B uncertain significance%3B functionally impaired in vitro. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80356959,PMID:23867111 P38398 UniProtKB Natural variant 1862 1862 . . . ID=VAR_070519;Note=In BC%3B uncertain significance%3B functionally neutral in vitro. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23867111;Dbxref=dbSNP:rs80357183,PMID:23867111 P38398 UniProtKB Mutagenesis 26 26 . . . Note=Disrupts the interaction with E2 enzymes%2C thereby abolishing the E3 ubiquitin-protein ligase activity. I->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:20351172;Dbxref=PMID:16818604,PMID:20351172 P38398 UniProtKB Mutagenesis 26 26 . . . Note=No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage. I->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:20351172;Dbxref=PMID:16818604,PMID:20351172 P38398 UniProtKB Mutagenesis 71 71 . . . Note=No effect on interaction with BAP1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9528852;Dbxref=PMID:9528852 P38398 UniProtKB Mutagenesis 1143 1143 . . . Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1239 1239 . . . Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1280 1280 . . . Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1298 1298 . . . Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1330 1330 . . . Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1387 1387 . . . Note=Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11114888,ECO:0000269|PubMed:12183412;Dbxref=PMID:11114888,PMID:12183412 P38398 UniProtKB Mutagenesis 1394 1394 . . . Note=Reduces in vitro phosphorylation by ATR. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1423 1423 . . . Note=Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11114888,ECO:0000269|PubMed:12183412;Dbxref=PMID:11114888,PMID:12183412 P38398 UniProtKB Mutagenesis 1457 1457 . . . Note=Reduces in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1466 1466 . . . Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1524 1524 . . . Note=No change in infrared S-phase delay%3B when associated with A-1387. No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11114888,ECO:0000269|PubMed:12183412;Dbxref=PMID:11114888,PMID:12183412 P38398 UniProtKB Mutagenesis 1655 1655 . . . Note=Abolishes interaction with BRIP1. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15133502;Dbxref=PMID:15133502 P38398 UniProtKB Mutagenesis 1656 1656 . . . Note=No effect on affinity for a BRIP1 phosphopeptide. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21473589;Dbxref=PMID:21473589 P38398 UniProtKB Mutagenesis 1662 1662 . . . Note=Does not abolish ABRAXAS1 binding%2C but abolishes formation of a heterotetramer with ABRAXAS1. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26778126;Dbxref=PMID:26778126 P38398 UniProtKB Mutagenesis 1663 1663 . . . Note=Does not abolish ABRAXAS1 binding%2C but abolishes formation of a heterotetramer with ABRAXAS1. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26778126;Dbxref=PMID:26778126 P38398 UniProtKB Mutagenesis 1666 1666 . . . Note=Does not abolish ABRAXAS1 binding%2C but impairs formation of a heterotetramer with ABRAXAS1. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26778126;Dbxref=PMID:26778126 P38398 UniProtKB Mutagenesis 1670 1670 . . . Note=Impairs formation of a heterotetramer with ABRAXAS1. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26778126;Dbxref=PMID:26778126 P38398 UniProtKB Mutagenesis 1671 1671 . . . Note=Impairs formation of a heterotetramer with ABRAXAS1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26778126;Dbxref=PMID:26778126 P38398 UniProtKB Mutagenesis 1700 1700 . . . Note=Strongly reduces affinity for a BRIP1 phosphopeptide. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21473589;Dbxref=PMID:21473589 P38398 UniProtKB Mutagenesis 1702 1702 . . . Note=Abolishes interaction with BRIP1. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15133502;Dbxref=PMID:15133502 P38398 UniProtKB Mutagenesis 1738 1738 . . . Note=Abolishes interaction with BRIP1. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15133502;Dbxref=PMID:15133502 P38398 UniProtKB Mutagenesis 1755 1755 . . . Note=No effect on in vitro phosphorylation by ATR. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11114888;Dbxref=PMID:11114888 P38398 UniProtKB Mutagenesis 1835 1835 . . . Note=Mildly reduces affinity for a BRIP1 phosphopeptide. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21473589;Dbxref=PMID:21473589 P38398 UniProtKB Mutagenesis 1836 1836 . . . Note=Slightly reduces affinity for a BRIP1 phosphopeptide. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21473589;Dbxref=PMID:21473589 P38398 UniProtKB Sequence conflict 89 89 . . . Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 148 148 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 253 253 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 713 713 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 1077 1077 . . . Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 1426 1426 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Sequence conflict 1527 1527 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P38398 UniProtKB Turn 5 7 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Helix 8 21 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Beta strand 25 27 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Helix 49 52 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Beta strand 54 58 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JM7 P38398 UniProtKB Beta strand 62 64 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Beta strand 66 68 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Turn 70 72 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Helix 80 96 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LYB P38398 UniProtKB Beta strand 1651 1656 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1659 1671 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1675 1679 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1T29 P38398 UniProtKB Beta strand 1686 1689 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1695 1697 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1701 1708 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1712 1715 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1717 1725 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1731 1734 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Turn 1740 1742 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1743 1745 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1T29 P38398 UniProtKB Helix 1748 1754 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Turn 1755 1757 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1T29 P38398 UniProtKB Turn 1760 1763 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1765 1768 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1770 1772 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1T2V P38398 UniProtKB Beta strand 1773 1775 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1777 1786 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1790 1794 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1795 1797 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1801 1803 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1806 1810 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1812 1814 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1817 1819 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OQA P38398 UniProtKB Helix 1820 1822 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1824 1827 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Beta strand 1828 1830 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3PXE P38398 UniProtKB Beta strand 1832 1834 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1835 1844 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Helix 1851 1853 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4IGK P38398 UniProtKB Sequence conflict 1461 1461 . . . Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305