methyl CpG binding protein 2 (Rett syndrome) (MECP2) - coding DNA reference sequence

(used for variant description)

(last modified November 8, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_004992.3 in the MECP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007107.1, covering MECP2 transcript NM_004992.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.4987
               ccggcgtcggcggcgcgcgcgctccctcctctcggagagagggctg       c.-181

 .         .         .         .         .         .                g.5047
 tggtaaaagccgtccggaaaatggccgccgccgccgccgccgcgccgagcggaggaggag       c.-121

 .         .         .  | 02      .         .         .             g.10402
 gaggaggcgaggaggagagact | gctccataaaaatacagactcaccagttcctgctttga    c.-61

 .         .         .         .         .         .                g.10462
 tgtgacatgtgactccccagaatacaccttgcttctgtagaccagctccaacaggattcc       c.-1

          .         .       | 03 .         .         .         .    g.70155
 ATGGTAGCTGGGATGTTAGGGCTCAG | GGAAGAAAAGTCAGAAGACCAGGACCTCCAGGGC    c.60
 M  V  A  G  M  L  G  L  R  |  E  E  K  S  E  D  Q  D  L  Q  G      p.20

          .         .         .         .         .         .       g.70215
 CTCAAGGACAAACCCCTCAAGTTTAAAAAGGTGAAGAAAGATAAGAAAGAAGAGAAAGAG       c.120
 L  K  D  K  P  L  K  F  K  K  V  K  K  D  K  K  E  E  K  E         p.40

          .         .         .         .         .         .       g.70275
 GGCAAGCATGAGCCCGTGCAGCCATCAGCCCACCACTCTGCTGAGCCCGCAGAGGCAGGC       c.180
 G  K  H  E  P  V  Q  P  S  A  H  H  S  A  E  P  A  E  A  G         p.60

          .         .         .         .         .         .       g.70335
 AAAGCAGAGACATCAGAAGGGTCAGGCTCCGCCCCGGCTGTGCCGGAAGCTTCTGCCTCC       c.240
 K  A  E  T  S  E  G  S  G  S  A  P  A  V  P  E  A  S  A  S         p.80

          .         .         .         .         .         .       g.70395
 CCCAAACAGCGGCGCTCCATCATCCGTGACCGGGGACCCATGTATGATGACCCCACCCTG       c.300
 P  K  Q  R  R  S  I  I  R  D  R  G  P  M  Y  D  D  P  T  L         p.100

          .         .         .         .         .         .       g.70455
 CCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGGCCGCTCTGCTGGGAAGTAT       c.360
 P  E  G  W  T  R  K  L  K  Q  R  K  S  G  R  S  A  G  K  Y         p.120

          .        | 04.         .         .         .         .    g.71271
 GATGTGTATTTGATCAA | TCCCCAGGGAAAAGCCTTTCGCTCTAAAGTGGAGTTGATTGCG    c.420
 D  V  Y  L  I  N  |  P  Q  G  K  A  F  R  S  K  V  E  L  I  A      p.140

          .         .         .         .         .         .       g.71331
 TACTTCGAAAAGGTAGGCGACACATCCCTGGACCCTAATGATTTTGACTTCACGGTAACT       c.480
 Y  F  E  K  V  G  D  T  S  L  D  P  N  D  F  D  F  T  V  T         p.160

          .         .         .         .         .         .       g.71391
 GGGAGAGGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAA       c.540
 G  R  G  S  P  S  R  R  E  Q  K  P  P  K  K  P  K  S  P  K         p.180

          .         .         .         .         .         .       g.71451
 GCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAG       c.600
 A  P  G  T  G  R  G  R  G  R  P  K  G  S  G  T  T  R  P  K         p.200

          .         .         .         .         .         .       g.71511
 GCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTC       c.660
 A  A  T  S  E  G  V  Q  V  K  R  V  L  E  K  S  P  G  K  L         p.220

          .         .         .         .         .         .       g.71571
 CTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACC       c.720
 L  V  K  M  P  F  Q  T  S  P  G  G  K  A  E  G  G  G  A  T         p.240

          .         .         .         .         .         .       g.71631
 ACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGAC       c.780
 T  S  T  Q  V  M  V  I  K  R  P  G  R  K  R  K  A  E  A  D         p.260

          .         .         .         .         .         .       g.71691
 CCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCC       c.840
 P  Q  A  I  P  K  K  R  G  R  K  P  G  S  V  V  A  A  A  A         p.280

          .         .         .         .         .         .       g.71751
 GCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTA       c.900
 A  E  A  K  K  K  A  V  K  E  S  S  I  R  S  V  Q  E  T  V         p.300

          .         .         .         .         .         .       g.71811
 CTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTG       c.960
 L  P  I  K  K  R  K  T  R  E  T  V  S  I  E  V  K  E  V  V         p.320

          .         .         .         .         .         .       g.71871
 AAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAG       c.1020
 K  P  L  L  V  S  T  L  G  E  K  S  G  K  G  L  K  T  C  K         p.340

          .         .         .         .         .         .       g.71931
 AGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCA       c.1080
 S  P  G  R  K  S  K  E  S  S  P  K  G  R  S  S  S  A  S  S         p.360

          .         .         .         .         .         .       g.71991
 CCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTG       c.1140
 P  P  K  K  E  H  H  H  H  H  H  H  S  E  S  P  K  A  P  V         p.380

          .         .         .         .         .         .       g.72051
 CCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACC       c.1200
 P  L  L  P  P  L  P  P  P  P  P  E  P  E  S  S  E  D  P  T         p.400

          .         .         .         .         .         .       g.72111
 AGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGA       c.1260
 S  P  P  E  P  Q  D  L  S  S  S  V  C  K  E  E  K  M  P  R         p.420

          .         .         .         .         .         .       g.72171
 GGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTT       c.1320
 G  G  S  L  E  S  D  G  C  P  K  E  P  A  K  T  Q  P  A  V         p.440

          .         .         .         .         .         .       g.72231
 GCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGAC       c.1380
 A  T  A  A  T  A  A  E  K  Y  K  H  R  G  E  G  E  R  K  D         p.460

          .         .         .         .         .         .       g.72291
 ATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCC       c.1440
 I  V  S  S  S  M  P  R  P  N  R  E  E  P  V  D  S  R  T  P         p.480

          .         .                                               g.72312
 GTGACCGAGAGAGTTAGCTGA                                              c.1461
 V  T  E  R  V  S  X                                                p.486

          .         .         .         .         .         .       g.72372
 ctttacacggagcggattgcaaagcaaaccaacaagaataaaggcagctgttgtctcttc       c.*60

          .         .         .         .         .         .       g.72432
 tccttatgggtagggctctgacaaagcttcccgattaactgaaataaaaaatattttttt       c.*120

          .         .         .         .         .         .       g.72492
 ttctttcagtaaacttagagtttcgtggcttcagggtgggagtagttggagcattgggga       c.*180

          .         .         .         .         .         .       g.72552
 tgtttttcttaccgacaagcacagtcaggttgaagacctaaccagggccagaagtagctt       c.*240

          .         .         .         .         .         .       g.72612
 tgcacttttctaaactaggctccttcaacaaggcttgctgcagatactactgaccagaca       c.*300

          .         .         .         .         .         .       g.72672
 agctgttgaccaggcacctcccctcccgcccaaacctttcccccatgtggtcgttagaga       c.*360

          .         .         .         .         .         .       g.72732
 cagagcgacagagcagttgagaggacactcccgttttcggtgccatcagtgccccgtcta       c.*420

          .         .         .         .         .         .       g.72792
 cagctcccccagctccccccacctcccccactcccaaccacgttgggacagggaggtgtg       c.*480

          .         .         .         .         .         .       g.72852
 aggcaggagagacagttggattctttagagaagatggatatgaccagtggctatggcctg       c.*540

          .         .         .         .         .         .       g.72912
 tgcgatcccacccgtggtggctcaagtctggccccacaccagccccaatccaaaactggc       c.*600

          .         .         .         .         .         .       g.72972
 aaggacgcttcacaggacaggaaagtggcacctgtctgctccagctctggcatggctagg       c.*660

          .         .         .         .         .         .       g.73032
 aggggggagtcccttgaactactgggtgtagactggcctgaaccacaggagaggatggcc       c.*720

          .         .         .         .         .         .       g.73092
 cagggtgaggtggcatggtccattctcaagggacgtcctccaacgggtggcgctagaggc       c.*780

          .         .         .         .         .         .       g.73152
 catggaggcagtaggacaaggtgcaggcaggctggcctggggtcaggccgggcagagcac       c.*840

          .         .         .         .         .         .       g.73212
 agcggggtgagagggattcctaatcactcagagcagtctgtgacttagtggacaggggag       c.*900

          .         .         .         .         .         .       g.73272
 ggggcaaagggggaggagaagaaaatgttcttccagttactttccaattctcctttaggg       c.*960

          .         .         .         .         .         .       g.73332
 acagcttagaattatttgcactattgagtcttcatgttcccacttcaaaacaaacagatg       c.*1020

          .         .         .         .         .         .       g.73392
 ctctgagagcaaactggcttgaattggtgacatttagtccctcaagccaccagatgtgac       c.*1080

          .         .         .         .         .         .       g.73452
 agtgttgagaactacctggatttgtatatatacctgcgcttgttttaaagtgggctcagc       c.*1140

          .         .         .         .         .         .       g.73512
 acatagggttcccacgaagctccgaaactctaagtgtttgctgcaattttataaggactt       c.*1200

          .         .         .         .         .         .       g.73572
 cctgattggtttctcttctccccttccatttctgccttttgttcatttcatcctttcact       c.*1260

          .         .         .         .         .         .       g.73632
 tctttcccttcctccgtcctcctccttcctagttcatcccttctcttccaggcagccgcg       c.*1320

          .         .         .         .         .         .       g.73692
 gtgcccaaccacacttgtcggctccagtccccagaactctgcctgccctttgtcctcctg       c.*1380

          .         .         .         .         .         .       g.73752
 ctgccagtaccagccccaccctgttttgagccctgaggaggccttgggctctgctgagtc       c.*1440

          .         .         .         .         .         .       g.73812
 cgacctggcctgtctgtgaagagcaagagagcagcaaggtcttgctctcctaggtagccc       c.*1500

          .         .         .         .         .         .       g.73872
 cctcttccctggtaagaaaaagcaaaaggcatttcccaccctgaacaacgagccttttca       c.*1560

          .         .         .         .         .         .       g.73932
 cccttctactctagagaagtggactggaggagctgggcccgatttggtagttgaggaaag       c.*1620

          .         .         .         .         .         .       g.73992
 cacagaggcctcctgtggcctgccagtcatcgagtggcccaacaggggctccatgccagc       c.*1680

          .         .         .         .         .         .       g.74052
 cgaccttgacctcactcagaagtccagagtctagcgtagtgcagcagggcagtagcggta       c.*1740

          .         .         .         .         .         .       g.74112
 ccaatgcagaactcccaagacccgagctgggaccagtacctgggtccccagcccttcctc       c.*1800

          .         .         .         .         .         .       g.74172
 tgctcccccttttccctcggagttcttcttgaatggcaatgttttgcttttgctcgatgc       c.*1860

          .         .         .         .         .         .       g.74232
 agacagggggccagaacaccacacatttcactgtctgtctggtccatagctgtggtgtag       c.*1920

          .         .         .         .         .         .       g.74292
 gggcttagaggcatgggcttgctgtgggtttttaattgatcagttttcatgtgggatccc       c.*1980

          .         .         .         .         .         .       g.74352
 atctttttaacctctgttcaggaagtccttatctagctgcatatcttcatcatattggta       c.*2040

          .         .         .         .         .         .       g.74412
 tatccttttctgtgtttacagagatgtctcttatatctaaatctgtccaactgagaagta       c.*2100

          .         .         .         .         .         .       g.74472
 ccttatcaaagtagcaaatgagacagcagtcttatgcttccagaaacacccacaggcatg       c.*2160

          .         .         .         .         .         .       g.74532
 tcccatgtgagctgctgccatgaactgtcaagtgtgtgttgtcttgtgtatttcagttat       c.*2220

          .         .         .         .         .         .       g.74592
 tgtccctggcttccttactatggtgtaatcatgaaggagtgaaacatcatagaaactgtc       c.*2280

          .         .         .         .         .         .       g.74652
 tagcacttccttgccagtctttagtgatcaggaaccatagttgacagttccaatcagtag       c.*2340

          .         .         .         .         .         .       g.74712
 cttaagaaaaaaccgtgtttgtctcttctggaatggttagaagtgagggagtttgccccg       c.*2400

          .         .         .         .         .         .       g.74772
 ttctgtttgtagagtctcatagttggactttctagcatatatgtgtccatttccttatgc       c.*2460

          .         .         .         .         .         .       g.74832
 tgtaaaagcaagtcctgcaaccaaactcccatcagcccaatccctgatccctgatccctt       c.*2520

          .         .         .         .         .         .       g.74892
 ccacctgctctgctgatgacccccccagcttcacttctgactcttccccaggaagggaag       c.*2580

          .         .         .         .         .         .       g.74952
 gggggtcagaagagagggtgagtcctccagaactcttcctccaaggacagaaggctcctg       c.*2640

          .         .         .         .         .         .       g.75012
 cccccatagtggcctcgaactcctggcactaccaaaggacacttatccacgagagcgcag       c.*2700

          .         .         .         .         .         .       g.75072
 catccgaccaggttgtcactgagaagatgtttattttggtcagttgggtttttatgtatt       c.*2760

          .         .         .         .         .         .       g.75132
 atacttagtcaaatgtaatgtggcttctggaatcattgtccagagctgcttccccgtcac       c.*2820

          .         .         .         .         .         .       g.75192
 ctgggcgtcatctggtcctggtaagaggagtgcgtggcccaccaggcccccctgtcaccc       c.*2880

          .         .         .         .         .         .       g.75252
 atgacagttcattcagggccgatggggcagtcgtggttgggaacacagcatttcaagcgt       c.*2940

          .         .         .         .         .         .       g.75312
 cactttatttcattcgggccccacctgcagctccctcaaagaggcagttgcccagcctct       c.*3000

          .         .         .         .         .         .       g.75372
 ttcccttccagtttattccagagctgccagtggggcctgaggctccttagggttttctct       c.*3060

          .         .         .         .         .         .       g.75432
 ctatttccccctttcttcctcattccctcgtctttcccaaaggcatcacgagtcagtcgc       c.*3120

          .         .         .         .         .         .       g.75492
 ctttcagcaggcagccttggcggtttatcgccctggcaggcaggggccctgcagctctca       c.*3180

          .         .         .         .         .         .       g.75552
 tgctgcccctgccttggggtcaggttgacaggaggttggagggaaagccttaagctgcag       c.*3240

          .         .         .         .         .         .       g.75612
 gattctcaccagctgtgtccggcccagttttggggtgtgacctcaatttcaattttgtct       c.*3300

          .         .         .         .         .         .       g.75672
 gtacttgaacattatgaagatgggggcctctttcagtgaatttgtgaacagcagaattga       c.*3360

          .         .         .         .         .         .       g.75732
 ccgacagctttccagtacccatggggctaggtcattaaggccacatccacagtctccccc       c.*3420

          .         .         .         .         .         .       g.75792
 acccttgttccagttgttagttactacctcctctcctgacaatactgtatgtcgtcgagc       c.*3480

          .         .         .         .         .         .       g.75852
 tccccccaggtctacccctcccggccctgcctgctggtgggcttgtcatagccagtggga       c.*3540

          .         .         .         .         .         .       g.75912
 ttgccggtcttgacagctcagtgagctggagatacttggtcacagccaggcgctagcaca       c.*3600

          .         .         .         .         .         .       g.75972
 gctcccttctgttgatgctgtattcccatatcaaaagacacaggggacacccagaaacgc       c.*3660

          .         .         .         .         .         .       g.76032
 cacatcccccaatccatcagtgccaaactagccaacggccccagcttctcagctcgctgg       c.*3720

          .         .         .         .         .         .       g.76092
 atggcggaagctgctactcgtgagcgccagtgcgggtgcagacaatcttctgttgggtgg       c.*3780

          .         .         .         .         .         .       g.76152
 catcattccaggcccgaagcatgaacagtgcacctgggacagggagcagccccaaattgt       c.*3840

          .         .         .         .         .         .       g.76212
 cacctgcttctctgcccagcttttcattgctgtgacagtgatggcgaaagagggtaataa       c.*3900

          .         .         .         .         .         .       g.76272
 ccagacacaaactgccaagttgggtggagaaaggagtttctttagctgacagaatctctg       c.*3960

          .         .         .         .         .         .       g.76332
 aattttaaatcacttagtaagcggctcaagcccaggagggagcagagggatacgagcgga       c.*4020

          .         .         .         .         .         .       g.76392
 gtcccctgcgcgggaccatctggaattggtttagcccaagtggagcctgacagccagaac       c.*4080

          .         .         .         .         .         .       g.76452
 tctgtgtcccccgtctaaccacagctccttttccagagcattccagtcaggctctctggg       c.*4140

          .         .         .         .         .         .       g.76512
 ctgactgggccaggggaggttacaggtaccagttctttaagaagatctttgggcatatac       c.*4200

          .         .         .         .         .         .       g.76572
 atttttagcctgtgtcattgccccaaatggattcctgtttcaagttcacacctgcagatt       c.*4260

          .         .         .         .         .         .       g.76632
 ctaggacctgtgtcctagacttcagggagtcagctgtttctagagttcctaccatggagt       c.*4320

          .         .         .         .         .         .       g.76692
 gggtctggaggacctgcccggtgggggggcagagccctgctccctccgggtcttcctact       c.*4380

          .         .         .         .         .         .       g.76752
 cttctctctgctctgacgggatttgttgattctctccattttggtgtctttctcttttag       c.*4440

          .         .         .         .         .         .       g.76812
 atattgtatcaatctttagaaaaggcatagtctacttgttataaatcgttaggatactgc       c.*4500

          .         .         .         .         .         .       g.76872
 ctcccccagggtctaaaattacatattagaggggaaaagctgaacactgaagtcagttct       c.*4560

          .         .         .         .         .         .       g.76932
 caacaatttagaaggaaaacctagaaaacatttggcagaaaattacatttcgatgttttt       c.*4620

          .         .         .         .         .         .       g.76992
 gaatgaatacgagcaagcttttacaacagtgctgatctaaaaatacttagcacttggcct       c.*4680

          .         .         .         .         .         .       g.77052
 gagatgcctggtgagcattacaggcaaggggaatctggaggtagccgacctgaggacatg       c.*4740

          .         .         .         .         .         .       g.77112
 gcttctgaacctgtcttttgggagtggtatggaaggtggagcgttcaccagtgacctgga       c.*4800

          .         .         .         .         .         .       g.77172
 aggcccagcaccaccctccttcccactcttctcatcttgacagagcctgccccagcgctg       c.*4860

          .         .         .         .         .         .       g.77232
 acgtgtcaggaaaacacccagggaactaggaaggcacttctgcctgaggggcagcctgcc       c.*4920

          .         .         .         .         .         .       g.77292
 ttgcccactcctgctctgctcgcctcggatcagctgagccttctgagctggcctctcact       c.*4980

          .         .         .         .         .         .       g.77352
 gcctccccaaggccccctgcctgccctgtcaggaggcagaaggaagcaggtgtgagggca       c.*5040

          .         .         .         .         .         .       g.77412
 gtgcaaggagggagcacaacccccagctcccgctccgggctccgacttgtgcacaggcag       c.*5100

          .         .         .         .         .         .       g.77472
 agcccagaccctggaggaaatcctacctttgaattcaagaacatttggggaatttggaaa       c.*5160

          .         .         .         .         .         .       g.77532
 tctctttgcccccaaacccccattctgtcctacctttaatcaggtcctgctcagcagtga       c.*5220

          .         .         .         .         .         .       g.77592
 gagcagatgaggtgaaaaggccaagaggtttggctcctgcccactgatagcccctctccc       c.*5280

          .         .         .         .         .         .       g.77652
 cgcagtgtttgtgtgtcaagtggcaaagctgttcttcctggtgaccctgattatatccag       c.*5340

          .         .         .         .         .         .       g.77712
 taacacatagactgtgcgcataggcctgctttgtctcctctatcctgggcttttgttttg       c.*5400

          .         .         .         .         .         .       g.77772
 ctttttagttttgcttttagtttttctgtcccttttatttaacgcaccgactagacacac       c.*5460

          .         .         .         .         .         .       g.77832
 aaagcagttgaatttttatatatatatctgtatattgcacaattataaactcattttgct       c.*5520

          .         .         .         .         .         .       g.77892
 tgtggctccacacacacaaaaaaagacctgttaaaattatacctgttgcttaattacaat       c.*5580

          .         .         .         .         .         .       g.77952
 atttctgataaccatagcataggacaagggaaaataaaaaaagaaaaaaaagaaaaaaaa       c.*5640

          .         .         .         .         .         .       g.78012
 acgacaaatctgtctgctggtcacttcttctgtccaagcagattcgtggtcttttcctcg       c.*5700

          .         .         .         .         .         .       g.78072
 cttctttcaagggctttcctgtgccaggtgaaggaggctccaggcagcacccaggttttg       c.*5760

          .         .         .         .         .         .       g.78132
 cactcttgtttctcccgtgcttgtgaaagaggtcccaaggttctgggtgcaggagcgctc       c.*5820

          .         .         .         .         .         .       g.78192
 ccttgacctgctgaagtccggaacgtagtcggcacagcctggtcgccttccacctctggg       c.*5880

          .         .         .         .         .         .       g.78252
 agctggagtccactggggtggcctgactcccccagtccccttcccgtgacctggtcaggg       c.*5940

          .         .         .         .         .         .       g.78312
 tgagcccatgtggagtcagcctcgcaggcctccctgccagtagggtccgagtgtgtttca       c.*6000

          .         .         .         .         .         .       g.78372
 tccttcccactctgtcgagcctgggggctggagcggagacgggaggcctggcctgtctcg       c.*6060

          .         .         .         .         .         .       g.78432
 gaacctgtgagctgcaccaggtagaacgccagggaccccagaatcatgtgcgtcagtcca       c.*6120

          .         .         .         .         .         .       g.78492
 aggggtcccctccaggagtagtgaagactccagaaatgtccctttcttctcccccatcct       c.*6180

          .         .         .         .         .         .       g.78552
 acgagtaattgcatttgcttttgtaattcttaatgagcaatatctgctagagagtttagc       c.*6240

          .         .         .         .         .         .       g.78612
 tgtaacagttctttttgatcatctttttttaataattagaaacaccaaaaaaatccagaa       c.*6300

          .         .         .         .         .         .       g.78672
 acttgttcttccaaagcagagagcattataatcaccagggccaaaagcttccctccctgc       c.*6360

          .         .         .         .         .         .       g.78732
 tgtcattgcttcttctgaggcctgaatccaaaagaaaaacagccataggccctttcagtg       c.*6420

          .         .         .         .         .         .       g.78792
 gccgggctacccgtgagcccttcggaggaccagggctggggcagcctctgggcccacatc       c.*6480

          .         .         .         .         .         .       g.78852
 cggggccagctccggcgtgtgttcagtgttagcagtgggtcatgatgctctttcccaccc       c.*6540

          .         .         .         .         .         .       g.78912
 agcctgggataggggcagaggaggcgaggaggccgttgccgctgatgtttggccgtgaac       c.*6600

          .         .         .         .         .         .       g.78972
 aggtgggtgtctgcgtgcgtccacgtgcgtgttttctgactgacatgaaatcgacgcccg       c.*6660

          .         .         .         .         .         .       g.79032
 agttagcctcacccggtgacctctagccctgcccggatggagcggggcccacccggttca       c.*6720

          .         .         .         .         .         .       g.79092
 gtgtttctggggagctggacagtggagtgcaaaaggcttgcagaacttgaagcctgctcc       c.*6780

          .         .         .         .         .         .       g.79152
 ttcccttgctaccacggcctcctttccgtttgatttgtcactgcttcaatcaataacagc       c.*6840

          .         .         .         .         .         .       g.79212
 cgctccagagtcagtagtcaatgaatatatgaccaaatatcaccaggactgttactcaat       c.*6900

          .         .         .         .         .         .       g.79272
 gtgtgccgagcccttgcccatgctgggctcccgtgtatctggacactgtaacgtgtgctg       c.*6960

          .         .         .         .         .         .       g.79332
 tgtttgctccccttccccttccttctttgccctttacttgtctttctggggtttttctgt       c.*7020

          .         .         .         .         .         .       g.79392
 ttgggtttggtttggtttttatttctccttttgtgttccaaacatgaggttctctctact       c.*7080

          .         .         .         .         .         .       g.79452
 ggtcctcttaactgtggtgttgaggcttatatttgtgtaatttttggtgggtgaaaggaa       c.*7140

          .         .         .         .         .         .       g.79512
 ttttgctaagtaaatctcttctgtgtttgaactgaagtctgtattgtaactatgtttaaa       c.*7200

          .         .         .         .         .         .       g.79572
 gtaattgttccagagacaaatatttctagacactttttctttacaaacaaaagcattcgg       c.*7260

          .         .         .         .         .         .       g.79632
 agggagggggatggtgactgagatgagaggggagagctgaacagatgacccctgcccaga       c.*7320

          .         .         .         .         .         .       g.79692
 tcagccagaagccacccaaagcagtggagcccaggagtcccactccaagccagcaagccg       c.*7380

          .         .         .         .         .         .       g.79752
 aatagctgatgtgttgccactttccaagtcactgcaaaaccaggttttgttccgcccagt       c.*7440

          .         .         .         .         .         .       g.79812
 ggattcttgttttgcttcccctccccccgagattattaccaccatcccgtgcttttaagg       c.*7500

          .         .         .         .         .         .       g.79872
 aaaggcaagattgatgtttccttgaggggagccaggaggggatgtgtgtgtgcagagctg       c.*7560

          .         .         .         .         .         .       g.79932
 aagagctggggagaatggggctgggcccacccaagcaggaggctgggacgctctgctgtg       c.*7620

          .         .         .         .         .         .       g.79992
 ggcacaggtcaggctaatgttggcagatgcagctcttcctggacaggccaggtggtgggc       c.*7680

          .         .         .         .         .         .       g.80052
 attctctctccaaggtgtgccccgtgggcattactgtttaagacacttccgtcacatccc       c.*7740

          .         .         .         .         .         .       g.80112
 accccatcctccagggctcaacactgtgacatctctattccccaccctccccttcccagg       c.*7800

          .         .         .         .         .         .       g.80172
 gcaataaaatgaccatggagggggcttgcactctcttggctgtcacccgatcgccagcaa       c.*7860

          .         .         .         .         .         .       g.80232
 aacttagatgtgagaaaaccccttcccattccatggcgaaaacatctccttagaaaagcc       c.*7920

          .         .         .         .         .         .       g.80292
 attaccctcattaggcatggttttgggctcccaaaacacctgacagcccctccctcctct       c.*7980

          .         .         .         .         .         .       g.80352
 gagaggcggagagtgctgactgtagtgaccattgcatgccgggtgcagcatctggaagag       c.*8040

          .         .         .         .         .         .       g.80412
 ctaggcagggtgtctgccccctcctgagttgaagtcatgctcccctgtgccagcccagag       c.*8100

          .         .         .         .         .         .       g.80472
 gccgagagctatggacagcattgccagtaacacaggccaccctgtgcagaagggagctgg       c.*8160

          .         .         .         .         .         .       g.80532
 ctccagcctggaaacctgtctgaggttgggagaggtgcacttggggcacagggagaggcc       c.*8220

          .         .         .         .         .         .       g.80592
 gggacacacttagctggagatgtctctaaaagccctgtatcgtattcaccttcagttttt       c.*8280

          .         .         .         .         .         .       g.80652
 gtgttttgggacaattactttagaaaataagtaggtcgttttaaaaacaaaaattattga       c.*8340

          .         .         .         .         .         .       g.80712
 ttgcttttttgtagtgttcagaaaaaaggttctttgtgtatagccaaatgactgaaagca       c.*8400

          .         .         .         .         .         .       g.80772
 ctgatatatttaaaaacaaaaggcaatttattaaggaaatttgtaccatttcagtaaacc       c.*8460

          .         .         .         .         .         .       g.80832
 tgtctgaatgtacctgtatacgtttcaaaaacaccccccccccactgaatccctgtaacc       c.*8520

          .         .         .                                     g.80866
 tatttattatataaagagtttgccttataaattt                                 c.*8554

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Methyl CpG binding protein 2 (Rett syndrome) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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