Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.
| RefSeq Version | NM_004992.3, 160707948 |
| Length | 10241 bp |
| Structure | linear |
| Update Date | 03-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. |
| Product | methyl-CpG-binding protein 2 isoform 1 |
| Comment | Summary: DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq]. Transcript Variant: This variant (1), also known as MECP2A, includes exon 2. Translation is reported to initiate in exon 2 resulting in a protein isoform (1) with a distinct N-terminus. |
| RefSeq | NP_004983.1 |
| CDS | 227..1687 | Exon (1) | 1..128 | Exon (2) | 1..128 | Exon (3) | 129..252 | Exon (4) | 253..603 | Exon (5) | 604..10241 |
| Translation | MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAG
KAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKY
DVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPK
APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV
LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS
PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS
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| Position | Chain | Variation | Link |
| 189..190 | + | , ta | dbSNP:62621665 |
| complement(235..236) | - | , c | dbSNP:34320032 |
| 254 | + | c, g | dbSNP:61754421 |
| 262 | + | c, g | dbSNP:61754422 |
| 268..269 | + | , agtcagaa | dbSNP:63749008 |
| 272 | + | c, t | dbSNP:61754424 |
| 281 | + | c, t | dbSNP:61754425 |
| 290 | + | a, t | dbSNP:62641234 |
| 302 | + | , c | dbSNP:61754426 |
| 317 | + | , g | dbSNP:61754427 |
| 326..329 | + | , gata | dbSNP:61754428 |
| 337 | + | , agaa | dbSNP:61754429 |
| 352..353 | + | , g | dbSNP:61754430 |
| 366..367 | + | , a | dbSNP:61754431 |
| 372 | + | a, c | dbSNP:61754432 |
| 381 | + | a, g | dbSNP:61754433 |
| 394 | + | c, t | dbSNP:61754435 |
| 394 | + | , cc | dbSNP:61754434 |
| 415..416 | + | , ga | dbSNP:61754436 |
| 420 | + | c, g | dbSNP:61754437 |
| 427 | + | , g | dbSNP:61754438 |
| 436 | + | c, t | dbSNP:61754439 |
| 441..442 | + | , c | dbSNP:61754441 |
| 441 | + | c, t | dbSNP:61754440 |
| 451 | + | a, g | dbSNP:61754442 |
| 455..464 | + | , gcttctgcct | dbSNP:63749009 |
| 471 | + | a, g | dbSNP:61754444 |
| 483 | + | c, g | dbSNP:61754445 |
| 485 | + | , ca | dbSNP:61754446 |
| 503 | + | c, t | dbSNP:61754447 |
| 515 | + | g, t | dbSNP:61754448 |
| 517 | + | a, c | dbSNP:61754449 |
| 523 | + | c, g | dbSNP:61754450 |
| 524 | + | c, g | dbSNP:28935168 |
| 525 | + | g, t | dbSNP:61754451 |
| 527 | + | c, t | dbSNP:61754452 |
| 528 | + | c, g | dbSNP:61754453 |
| 537..549 | + | , ggacacggaagct | dbSNP:63749010 |
| 537 | + | a, g | dbSNP:61754455 |
| 541..542 | + | , a | dbSNP:61754456 |
| 542 | + | a, c, g, t | dbSNP:28934907 |
| 543 | + | a, g | dbSNP:61754457 |
| 549 | + | a, t | dbSNP:61754458 |
| 557 | + | a, g | dbSNP:61754459 |
| 567 | + | c, g | dbSNP:61755760 |
| 571 | + | , c | dbSNP:61755761 |
| 588 | + | a, g | dbSNP:61755762 |
| 598 | + | c, g | dbSNP:61755763 |
| 601 | + | a, c | dbSNP:61755764 |
| 601 | + | , c | dbSNP:62643609 |
| 606 | + | c, t | dbSNP:61748382 |
| 609 | + | a, c | dbSNP:61748383 |
| 612 | + | g, t | dbSNP:61748384 |
| 619 | + | c, g | dbSNP:61748385 |
| 623 | + | a, c, g, t | dbSNP:28934904 |
| 624 | + | a, g | dbSNP:61748389 |
| 627 | + | c, g, t | dbSNP:61748390 |
| 629 | + | a, c, g, t | dbSNP:61748391 |
| 636 | + | a, g | dbSNP:61748392 |
| 637 | + | , g | dbSNP:61748393 |
| 645 | + | c, t | dbSNP:28934908 |
| 648..649 | + | , a | dbSNP:61748394 |
| 648 | + | a, g | dbSNP:61748395 |
| 649 | + | a, c, g | dbSNP:61748396 |
| 652 | + | c, t | dbSNP:61748397 |
| 654..655 | + | , t | dbSNP:61748398 |
| 656 | + | a, t | dbSNP:61748399 |
| 657 | + | , a | dbSNP:61748400 |
| 664 | + | c, t | dbSNP:61748386 |
| 665 | + | a, g | dbSNP:61748401 |
| 665 | + | , g | dbSNP:62952161 |
| 677 | + | , g | dbSNP:61748402 |
| 678 | + | a, g | dbSNP:61748403 |
| 681 | + | c, g, t | dbSNP:61748404 |
| 689 | + | a, t | dbSNP:61748406 |
| 690 | + | c, g, t | dbSNP:28934905 |
| 693 | + | a, g | dbSNP:61748407 |
| 694..695 | + | , c | dbSNP:61748409 |
| 694 | + | c, g | dbSNP:61748408 |
| 695 | + | a, t | dbSNP:61748410 |
| 698 | + | a, g | dbSNP:61748411 |
| 699 | + | a, c, g, t | dbSNP:28934906 |
| 700 | + | a, g | dbSNP:61748413 |
| 705 | + | c, g | dbSNP:61748414 |
| 706 | + | , tg | dbSNP:61748415 |
| 707 | + | g, t | dbSNP:61748416 |
| 708 | + | g, t | dbSNP:61748417 |
| 709 | + | , g | dbSNP:61748418 |
| 715 | + | , gg | dbSNP:61748419 |
| 725 | + | c, t | dbSNP:61748420 |
| 728 | + | a, c, g, t | dbSNP:61748421 |
| 734 | + | c, t | dbSNP:61748425 |
| 740 | + | c, t | dbSNP:61748426 |
| 743 | + | c, g | dbSNP:61748427 |
| 749 | + | a, t | dbSNP:61748428 |
| 751..752 | + | , c, g | dbSNP:62621666 |
| 753 | + | c, g | dbSNP:61749701 |
| 754 | + | c, g | dbSNP:61754420 |
| 755 | + | a, t | dbSNP:61749702 |
| 757 | + | , a | dbSNP:61749703 |
| 768 | + | c, t | dbSNP:61749705 |
| 773 | + | c, g | dbSNP:61749706 |
| 780 | + | , g | dbSNP:61749707 |
| 792 | + | , g | dbSNP:61749708 |
| 793..794 | + | , a | dbSNP:61749709 |
| 799 | + | c, t | dbSNP:61749710 |
| 808 | + | c, t | dbSNP:61749711 |
| 811 | + | c, t | dbSNP:61749712 |
| 813 | + | c, g | dbSNP:61749713 |
| 816..832 | + | , cgagacccaaggcggcc, ggccgccttgggtctcg | dbSNP:63749746 |
| 816 | + | c, t | dbSNP:61749714 |
| 817 | + | a, g | dbSNP:61749716 |
| 818 | + | a, t | dbSNP:61749717 |
| 824 | + | a, t | dbSNP:61749718 |
| 827..828 | + | , g | dbSNP:61749719 |
| 828 | + | c, t | dbSNP:61748381 |
| 834 | + | c, t | dbSNP:61749720 |
| 835 | + | a, g | dbSNP:61749722 |
| 837 | + | a, c, g | dbSNP:61749724 |
| 838 | + | a, g | dbSNP:61749725 |
| 839 | + | g, t | dbSNP:61749726 |
| 843 | + | c, g | dbSNP:63485860 |
| 843 | + | , g | dbSNP:61749727 |
| 846..847 | + | , t | dbSNP:61749728 |
| 848 | + | c, t | dbSNP:61749729 |
| 855 | + | a, t | dbSNP:61749730 |
| 856..859 | + | , aagg, cctt | dbSNP:62621668 |
| 859 | + | c, g | dbSNP:61749731 |
| 877 | + | , tg | dbSNP:61749733 |
| 880..883 | + | , gaag | dbSNP:61749734 |
| 881 | + | , tcctggagaaaagtcctggga | dbSNP:63749011 |
| 892 | + | c, g | dbSNP:61749735 |
| 900 | + | c, g, t | dbSNP:61749715 |
| 903..904 | + | , a | dbSNP:61749736 |
| 905 | + | c, g | dbSNP:61749737 |
| 909 | + | c, g | dbSNP:61749738 |
| 912 | + | a, c, g, t | dbSNP:61749739 |
| 916 | + | a, c | dbSNP:61749740 |
| 921 | + | c, g | dbSNP:61748422 |
| 921 | + | , g | dbSNP:63260260 |
| 922 | + | , c | dbSNP:61749741 |
| 936..937 | + | , g | dbSNP:61749742 |
| 936 | + | g, t | dbSNP:62846063 |
| 936 | + | , g | dbSNP:61749743 |
| 941 | + | , g | dbSNP:61749744 |
| 946..947 | + | , c | dbSNP:61749745 |
| 946 | + | c, t | dbSNP:61749746 |
| 956 | + | c, t | dbSNP:61749747 |
| 962..963 | + | , at | dbSNP:61749749 |
| 965 | + | , g | dbSNP:61749750 |
| 974..979 | + | , cgcccc | dbSNP:61750225 |
| 974..975 | + | , c | dbSNP:61749752 |
| 975..976 | + | , cc | dbSNP:61750226 |
| 975 | + | a, g | dbSNP:61750227 |
| 976..977 | + | , c | dbSNP:61750228 |
| 976 | + | c, t | dbSNP:61748424 |
| 977..978 | + | , acgcc | dbSNP:61749751 |
| 978 | + | c, t | dbSNP:61750229 |
| 979 | + | c, t | dbSNP:63582063 |
| 979 | + | , c | dbSNP:61750231 |
| 980..981 | + | , c | dbSNP:61750232 |
| 981 | + | , g | dbSNP:61750233 |
| 985 | + | , cagg, tcatggtgatcaaacgccccggcagg | dbSNP:61750234 |
| 986 | + | a, t | dbSNP:63259763 |
| 989..990 | + | , caggaagc | dbSNP:61750235 |
| 989 | + | a, c, g, t | dbSNP:61749721 |
| 1003 | + | c, t | dbSNP:1042870 |
| 1018 | + | , tc | dbSNP:61750237 |
| 1025 | + | a, t | dbSNP:61750238 |
| 1028 | + | c, t | dbSNP:61750239 |
| 1032 | + | , c, g | dbSNP:61750241 |
| 1034 | + | a, c, g, t | dbSNP:61750240 |
| 1034 | + | , c | dbSNP:62931162 |
| 1038..1044 | + | , agccggg | dbSNP:61750242 |
| 1041 | + | a, c, g, t | dbSNP:61750243 |
| 1042..1058 | + | , ggggagtgtggtggcag | dbSNP:63749012 |
| 1045 | + | a, c, g, t | dbSNP:61750245 |
| 1056 | + | , c | dbSNP:61750247 |
| 1060 | + | c, t | dbSNP:61750248 |
| 1062 | + | c, t | dbSNP:61750249 |
| 1066 | + | c, t | dbSNP:61750251 |
| 1069 | + | c, t | dbSNP:61750252 |
| 1075..1076 | + | , a | dbSNP:61750254 |
| 1075 | + | c, g | dbSNP:61750253 |
| 1076 | + | a, g | dbSNP:61750255 |
| 1082..1085 | + | , aaag | dbSNP:61750256 |
| 1085 | + | c, g | dbSNP:61750257 |
| 1089..1090 | + | , g | dbSNP:61750258 |
| 1091 | + | a, t | dbSNP:61750259 |
| 1097 | + | g, t | dbSNP:61751360 |
| 1100..1101 | + | , a | dbSNP:61751361 |
| 1106..1110 | + | , cgatc | dbSNP:61751364 |
| 1106 | + | a, c, g, t | dbSNP:61751362 |
| 1107 | + | c, g | dbSNP:61751366 |
| 1115 | + | c, t | dbSNP:61751367 |
| 1116..1201 | + | dbSNP:63749747 | |
| 1123 | + | c, t | dbSNP:61748423 |
| 1124..1325 | + | dbSNP:61751369 | |
| 1124..1127 | + | , gtac | dbSNP:62701461 |
| 1124 | + | a, g | dbSNP:61751370 |
| 1129 | + | c, t | dbSNP:61751372 |
| 1130 | + | a, c, g, t | dbSNP:61751373 |
| 1130 | + | , gtactcc | dbSNP:61751371 |
| 1131 | + | c, t | dbSNP:61749723 |
| 1132 | + | c, g | dbSNP:61751438 |
| 1135 | + | c, g | dbSNP:61751439 |
| 1136 | + | a, g | dbSNP:61751440 |
| 1140 | + | a, g | dbSNP:61751441 |
| 1142 | + | a, c, g, t | dbSNP:28935468 |
| 1143 | + | a, g | dbSNP:61751443 |
| 1151 | + | c, t | dbSNP:61751444 |
| 1158 | + | c, t | dbSNP:61751445 |
| 1164..1207 | + | , gcatcgaggtcaaggaagtggtgaagcccctgctggtgtccacc, ggtggacaccagcaggggcttcaccacttccttgacctcgatgc | dbSNP:63749749 |
| 1168 | + | c, t | dbSNP:61751446 |
| 1174 | + | c, g | dbSNP:61751447 |
| 1179 | + | a, c | dbSNP:61751448 |
| 1190 | + | c, g, t | dbSNP:61751449 |
| 1191..1196 | + | , ccctgc | dbSNP:61751452 |
| 1191 | + | c, t | dbSNP:61751450 |
| 1200 | + | , accagcaggggcttcaccacttccttgacctcgatgctgaccgt, acggtcagcatcgaggtcaaggaagtggtgaagcccctgctggt | dbSNP:63749748 |
| 1210 | + | c, t | dbSNP:61751442 |
| 1218..1220 | + | , aga | dbSNP:61751456 |
| 1222..1223 | + | , ag | dbSNP:61752360 |
| 1224 | + | , agcgg | dbSNP:61751459 |
| 1225 | + | g, t | dbSNP:61751451 |
| 1238..1419 | + | dbSNP:62643610 | |
| 1252..1253 | + | , g | dbSNP:61751453 |
| 1255 | + | , g | dbSNP:61751457 |
| 1256..1421 | + | dbSNP:62643611 | |
| 1256 | + | c, t | dbSNP:61752361 |
| 1261 | + | a, g | dbSNP:61752362 |
| 1264..1417 | + | dbSNP:61750230 | |
| 1264..1345 | + | dbSNP:63749014 | |
| 1264 | + | c, g | dbSNP:61752365 |
| 1265..1421 | + | , acccctgcccccacctccacctgagcccgagagctccgaggacc | dbSNP:61752366 |
| 1283..1445 | + | dbSNP:61752368 | |
| 1287..1382 | + | , tgcccccacctccacctgagcccgagagctccgaggaccccacc | dbSNP:61752990 |
| 1287 | + | a, g | dbSNP:61748387 |
| 1289..1462 | + | dbSNP:61753250 | |
| 1295 | + | , agc | dbSNP:61752369 |
| 1297 | + | c, t | dbSNP:61750236 |
| 1301..1404 | + | dbSNP:61752370 | |
| 1301 | + | c, t | dbSNP:61752371 |
| 1305 | + | a, c | dbSNP:61752372 |
| 1307 | + | c, g | dbSNP:61752373 |
| 1313 | + | a, t | dbSNP:61752375 |
| 1322..1427 | + | dbSNP:62643612 | |
| 1323..1429 | + | dbSNP:61752376 | |
| 1325 | + | , caccaccatcaccaccactc | dbSNP:63749016 |
| 1326..1414 | + | a, g | dbSNP:61748412 |
| 1327..1427 | + | dbSNP:61752378 | |
| 1329..1398 | + | dbSNP:63749017 | |
| 1330..1332 | + | , cca | dbSNP:61752381 |
| 1330 | + | c, t | dbSNP:61752382 |
| 1333..1553 | + | dbSNP:61752383 | |
| 1349 | + | dbSNP:61752385 | |
| 1352 | + | c, t | dbSNP:61752387 |
| 1353..1405 | + | dbSNP:63094663 | |
| 1353 | + | c, g | dbSNP:61752976 |
| 1355..1419 | + | dbSNP:63749021 | |
| 1358 | + | , gcccccgtgccactgctcccacccctgc | dbSNP:61752978 |
| 1363 | + | c, t | dbSNP:61752980 |
| 1363 | + | , cccaaaggccccc | dbSNP:63749020 |
| 1367 | + | c, g | dbSNP:61752981 |
| 1368 | + | , cccgtgcc, ccgtgcc | dbSNP:63037561 |
| 1371..1376 | + | dbSNP:63749015 | |
| 1371..1374 | + | dbSNP:63749022 | |
| 1376..1418 | + | , ccacccctgcccccacctccacctgagcccgagagctccgagg | dbSNP:63749023 |
| 1377..1417 | + | , cacccctgcccccacctccacctgagcccgagagctccgag | dbSNP:63749024 |
| 1378..1418 | + | , acccctgcccccacctccacctgagcccgagagctccgagg | dbSNP:63749025 |
| 1379..1416 | + | , cccctgcccccacctccacctgagcccgagagctccga, cctccacctgagcccgagagctccga | dbSNP:63302762 |
| 1380..1411 | + | , ccccacctccacctgagcccgagagc, ccctgcccccacctccacctgagcccgagagc | dbSNP:63556160 |
| complement(1380) | - | g, a | dbSNP:111302745 |
| 1381 | + | , accc | dbSNP:61752984 |
| 1382..1498 | + | dbSNP:62643613 | |
| 1382 | + | c, t | dbSNP:1042873 |
| 1383..1418 | + | , tgcccccacctccacctgagcccgagagctccgagg | dbSNP:63749028 |
| 1383..1413 | + | , tgcccccacctccacctgagcccgagagctc | dbSNP:61754419 |
| 1383 | + | , tgcccccacctccacctgagcccgagagctccgag | dbSNP:62641239 |
| 1384..1427 | + | , gcccccacctccacctgagcccgagagctccgaggaccccacca | dbSNP:61752992 |
| 1384..1426 | + | , gcccccacctccacctgagcccgagagctccgaggaccccacc | dbSNP:63009262 |
| 1384..1412 | + | , gcccccacctccacctgagcccgagagct | dbSNP:63749029 |
| 1384..1393 | + | , gcccccacct | dbSNP:63583161 |
| 1385..1427 | + | , cccccacctccacctgagcccgagagctccgaggaccccacca | dbSNP:63749030 |
| 1386 | + | c, t | dbSNP:63390262 |
| 1386 | + | , ccccacctccacctgagcccgagagctccgagga | dbSNP:61751458 |
| 1387 | + | a, c, g, t | dbSNP:61750246 |
| 1388..1417 | + | , ccacctccacctgagcccgagagctccgag | dbSNP:63749034 |
| 1388 | + | a, c, g, t | dbSNP:61753000 |
| 1389 | + | c, t | dbSNP:61753006 |
| 1389 | + | , ccc | dbSNP:61751455 |
| 1392 | + | , cccacc | dbSNP:61752998 |
| 1393 | + | , tccacctgag | dbSNP:63749006 |
| 1394..1399 | + | , ccacct | dbSNP:61753008 |
| 1395..1565 | + | dbSNP:61752364 | |
| 1399 | + | , cacctccacct, tgagcccgagagctcc | dbSNP:63749007 |
| 1402 | + | a, g | dbSNP:61753009 |
| 1402 | + | , gcccgagagctccgagga | dbSNP:63749036 |
| 1405 | + | , cacctccacctgagccc, ccacctccacctgagccc | dbSNP:63749033 |
| 1406 | + | a, g | dbSNP:63094662 |
| 1406 | + | , ccccacctccacctgagcccg | dbSNP:63749032 |
| 1411..1417 | + | , ctccgag | dbSNP:63749018 |
| 1415..1416 | + | , a | dbSNP:61753010 |
| complement(1415) | - | t, c | dbSNP:56268439 |
| 1420..1421 | + | , t | dbSNP:61753011 |
| 1422 | + | c, t | dbSNP:62915962 |
| 1422 | + | , gaggaccc | dbSNP:63749013 |
| 1423 | + | c, t | dbSNP:61753012 |
| 1423 | + | , cacctccacctgagcccgagagctccgaggacccc, tgcccccacctccacctgagcccgagagctccgaggacccc | dbSNP:62661361 |
| 1423 | + | , ccctgcccccacctccacctgagcccgagagctccgaggacccc | dbSNP:63749026 |
| 1424..1425 | + | , c | dbSNP:61753013 |
| 1426 | + | , ccccacctccacctgagcccgagagctccgaggaccccacc, cctgcccccacctccacctgagcccgagagctccgaggaccccacc, ctgcccccacctccacctgagcccgagagctccgaggaccccacc, tccacctgagcccgagagctccgaggaccccacc | dbSNP:61752384 |
| 1427 | + | dbSNP:63749019 | |
| 1428 | + | a, g | dbSNP:62707562 |
| 1431 | + | c, t | dbSNP:61753014 |
| 1431 | + | , cccacctccacctgagcccgagagctccgaggaccccaccagccc, gagagctccgaggaccccaccagccc | dbSNP:63586861 |
| 1432 | + | c, t | dbSNP:63586860 |
| 1432 | + | , acctccacctgagcccgagagctccgaggaccccaccagcccc | dbSNP:61748388 |
| 1433 | + | , acctccacctgagcccgagagctccgaggaccccaccagccccc | dbSNP:62900062 |
| 1434 | + | , acctccacctgagcccgagagctccgaggaccccaccagcccccc | dbSNP:62762360 |
| 1436..1437 | + | dbSNP:63749031 | |
| 1440 | + | c, t | dbSNP:61753016 |
| 1441 | + | c, t | dbSNP:61753964 |
| 1442 | + | c, t | dbSNP:61753965 |
| 1442 | + | dbSNP:63290961 | |
| 1449..1491 | + | , tgagcagcagcgtctgcaaagaggagaagatgcccagaggagg | dbSNP:63749038 |
| 1458..1466 | + | , gcgtctgca | dbSNP:63749027 |
| complement(1459) | - | g, a | dbSNP:3027928 |
| 1460 | + | a, g | dbSNP:61753966 |
| 1465 | + | c, t | dbSNP:61753967 |
| 1476 | + | a, t | dbSNP:61753968 |
| 1486 | + | , tctgcaaagaggagaagatgcccaga | dbSNP:63749039 |
| 1491..1515 | + | , gctcactggagagcgacggctgccc | dbSNP:63749064 |
| 1492 | + | c, t | dbSNP:61753970 |
| 1508 | + | a, g | dbSNP:61753971 |
| 1534..1535 | + | , tc | dbSNP:61753972 |
| 1541 | + | a, g | dbSNP:61753973 |
| 1550 | + | a, g | dbSNP:61753974 |
| 1552 | + | c, t | dbSNP:61751363 |
| 1556..1568 | + | , gccacggccgcag | dbSNP:63749065 |
| 1556 | + | a, g | dbSNP:61753975 |
| complement(1561) | - | t, c | dbSNP:3027927 |
| 1566 | + | c, t | dbSNP:61753978 |
| 1583 | + | c, t | dbSNP:61753979 |
| 1584 | + | a, g | dbSNP:61753980 |
| 1589 | + | g, t | dbSNP:104894864 |
| 1645 | + | c, g | dbSNP:75498268 |
| 1672 | + | c, t | dbSNP:76895094 |
| 1779 | + | c, t | dbSNP:62621672 |
| complement(1843) | - | c, a | dbSNP:73627291 |
| complement(1881) | - | t, c | dbSNP:3027926 |
| 2015 | + | a, g | dbSNP:62621673 |
| 2046 | + | c, g | dbSNP:62621674 |
| 2050 | + | c, g | dbSNP:62621675 |
| complement(2054) | - | t, c | dbSNP:62620967 |
| complement(2176) | - | g, c | dbSNP:111565519 |
| complement(2218..2219) | - | , t | dbSNP:34192817 |
| complement(2314) | - | t, c | dbSNP:3027925 |
| complement(2565) | - | g, c | dbSNP:3027924 |
| complement(2751) | - | t, a | dbSNP:5987193 |
| 2963 | + | a, g | dbSNP:2853337 |
| complement(3087) | - | g, c | dbSNP:3027923 |
| complement(3129) | - | t, c | dbSNP:2734645 |
| complement(3197) | - | g, a | dbSNP:112674002 |
| complement(3330) | - | g, a | dbSNP:41304986 |
| complement(3424) | - | t, c | dbSNP:3027922 |
| complement(3658) | - | c, a | dbSNP:112969322 |
| complement(3914) | - | t, a | dbSNP:78543190 |
| 4090 | + | c, g | dbSNP:3813458 |
| 4145 | + | c, t | dbSNP:3813459 |
| complement(4344) | - | t, c | dbSNP:3027921 |
| 4806 | + | a, g | dbSNP:28403628 |
| complement(4964) | - | g, c | dbSNP:2734644 |
| complement(5164) | - | t, c | dbSNP:56036177 |
| complement(5325) | - | t, c | dbSNP:2734647 |
| complement(5748) | - | , a | dbSNP:35261581 |
| complement(6263) | - | t, g | dbSNP:3027920 |
| complement(6318) | - | t, c | dbSNP:2734643 |
| complement(7328) | - | t, g | dbSNP:61495057 |
| complement(7588) | - | t, c | dbSNP:79615013 |
| complement(8323) | - | g, c | dbSNP:111782334 |
| complement(8609) | - | g, c | dbSNP:3027919 |
| complement(9067) | - | t, c | dbSNP:41314155 |
| complement(9145) | - | g, c | dbSNP:12556178 |
| complement(9204) | - | t, a | dbSNP:3027918 |
| complement(9435) | - | g, a | dbSNP:3027917 |
| complement(9535) | - | g, a | dbSNP:3027916 |
| complement(9543) | - | t, g | dbSNP:3027915 |
| complement(9637) | - | g, a | dbSNP:41299118 |
| complement(9822) | - | t, c | dbSNP:3027914 |
| complement(9830) | - | t, a | dbSNP:3027913 |
| complement(9847) | - | t, c | dbSNP:3027912 |
| complement(9904) | - | t, c | dbSNP:7066787 |
| 10124 | + | a, g | dbSNP:3177341 |
| complement(10180..10181) | - | , g | dbSNP:57855075 |
| Gene Symbol | MECP2 |
| Gene Synonym | AUTSX3; DKFZp686A24160; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT |
| Chromosome | X |
| Locus Map | Xq28 |
| All Transcripts | NM_004992 , NM_001110792 |
| Title | Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients . |
| Author | Webb,R., Kelly,J.A., Somers,E.C., Hughes,T., Kaufman,K.M., Sanchez,E., Nath,S.K., Bruner,G., Alarcon-Riquelme,M.E., Gilkeson,G.S., Kamen,D.L., Richardson,B.C., Harley,J.B. and Sawalha,A.H. |
| Journal | Ann. Rheum. Dis. 70 (1), 151-156 (2011) |
| Title | L1 retrotransposition in neurons is modulated by MeCP2 . |
| Author | Muotri,A.R., Marchetto,M.C., Coufal,N.G., Oefner,R., Yeo,G., Nakashima,K. and Gage,F.H. |
| Journal | Nature 468 (7322), 443-446 (2010) |
| Title | Epilepsy in Rett syndrome: clinical and genetic features . |
| Author | Pintaudi,M., Calevo,M.G., Vignoli,A., Parodi,E., Aiello,F., Baglietto,M.G., Hayek,Y., Buoni,S., Renieri,A., Russo,S., Cogliati,F., Giordano,L., Canevini,M. and Veneselli,E. |
| Journal | Epilepsy Behav 19 (3), 296-300 (2010) |
| Title | Sequence variants within exon 1 of MECP2 occur in females with mental retardation . |
| Author | Harvey,C.G., Menon,S.D., Stachowiak,B., Noor,A., Proctor,A., Mensah,A.K., Mnatzakanian,G.N., Alfred,S.E., Guo,R., Scherer,S.W., Kennedy,J.L., Roberts,W., Srivastava,A.K., Minassian,B.A. and Vincent,J.B. |
| Journal | Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (3), 355-360 (2007) |
| Title | Mechanisms of disease: neurogenetics of MeCP2 deficiency . |
| Author | Francke,U. |
| Journal | Nat Clin Pract Neurol 2 (4), 212-221 (2006) |
| Title | A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome . |
| Author | Mnatzakanian,G.N., Lohi,H., Munteanu,I., Alfred,S.E., Yamada,T., MacLeod,P.J., Jones,J.R., Scherer,S.W., Schanen,N.C., Friez,M.J., Vincent,J.B. and Minassian,B.A. |
| Journal | Nat. Genet. 36 (4), 339-341 (2004) |
| Title | Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions . |
| Author | Reichwald,K., Thiesen,J., Wiehe,T., Weitzel,J., Poustka,W.A., Rosenthal,A., Platzer,M., Stratling,W.H. and Kioschis,P. |
| Journal | Mamm. Genome 11 (3), 182-190 (2000) |
| Title | Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2 . |
| Author | D'Esposito,M., Quaderi,N.A., Ciccodicola,A., Bruni,P., Esposito,T., D'Urso,M. and Brown,S.D. |
| Journal | Mamm. Genome 7 (7), 533-535 (1996) |
| Title | The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse . |
| Author | Tate,P., Skarnes,W. and Bird,A. |
| Journal | Nat. Genet. 12 (2), 205-208 (1996) |
| Title | Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA . |
| Author | Lewis,J.D., Meehan,R.R., Henzel,W.J., Maurer-Fogy,I., Jeppesen,P., Klein,F. and Bird,A. |
| Journal | Cell 69 (6), 905-914 (1992) |
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