mannosidase, endo-alpha-like (MANEAL) - coding DNA reference sequence

(used for variant description)

(last modified March 2, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001031740.2 in the MANEAL gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering MANEAL transcript NM_001031740.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                         .         .                g.5021
                                        gggaagcgcgcggccgggcgg       c.-61

 .         .         .         .         .         .                g.5081
 gcggccatggcgcggcacgctgggaggtagcgcggcggctgcaggagcgcacagtcggcc       c.-1

          .         .         .         .         .         .       g.5141
 ATGGCCCGGCGGCGGCGCCGCGCCTGCATCGCTCTGTTCCTGGTGCTGCTCTTCGCCTTC       c.60
 M  A  R  R  R  R  R  A  C  I  A  L  F  L  V  L  L  F  A  F         p.20

          .         .         .         .         .         .       g.5201
 GGCACCCTCATGGGTCTGCGCACGCTCAAGGCTCCGGACGGACTCCCGGCGCTGGGCCCG       c.120
 G  T  L  M  G  L  R  T  L  K  A  P  D  G  L  P  A  L  G  P         p.40

          .         .         .         .         .         .       g.5261
 GGCCTGGAGCTGGCGCCCTTTGAGCGACGCCCAGAGGGGGCCCCCGCGCCCGCTGCCAGG       c.180
 G  L  E  L  A  P  F  E  R  R  P  E  G  A  P  A  P  A  A  R         p.60

          .         .         .         .         .         .       g.5321
 GCCCCGGCAGCCCCTGCCGCGCCGCCCCCGCCGCCGCCGCCGCCCCGCACCGCGGACCCT       c.240
 A  P  A  A  P  A  A  P  P  P  P  P  P  P  P  R  T  A  D  P         p.80

          .         .         .         .         .         .       g.5381
 GGCGGCTCCCCTGGGCCGGCACCCGCGGAGGCCGAGCCCGCCCCCGTGCAGAGCCTGCGC       c.300
 G  G  S  P  G  P  A  P  A  E  A  E  P  A  P  V  Q  S  L  R         p.100

          .         .         .         .         .         .       g.5441
 GTCTACTCGGACCTGCACGCCTTCTACTACTCGTGGTACGGGAGCCCGCGGCGCGAGGGC       c.360
 V  Y  S  D  L  H  A  F  Y  Y  S  W  Y  G  S  P  R  R  E  G         p.120

          .         .         .         .         .         .       g.5501
 CACTACATTCACTGGGACCACGTCATGGTGCCGCACTGGGACCCCAAGATCTCGGCCAGC       c.420
 H  Y  I  H  W  D  H  V  M  V  P  H  W  D  P  K  I  S  A  S         p.140

          .         .         .         .         .         .       g.5561
 TACCCCCGCGGCCGCCACAGCCCCCCAGACGACTTGGGCTCCAGCTTCTACCCGGAGCTG       c.480
 Y  P  R  G  R  H  S  P  P  D  D  L  G  S  S  F  Y  P  E  L         p.160

          .         .         .         .         .         .       g.5621
 GGGCCCTACAGCTCCCGGGACCCCGAAGTGCTGCGGGAGCATATGACCCAGCTCAAGGAA       c.540
 G  P  Y  S  S  R  D  P  E  V  L  R  E  H  M  T  Q  L  K  E         p.180

          . | 02       .         .         .         .         .    g.6685
 GCCGCCATCG | GCGTCCTGGTCCTGTCCTGGTACCCACCTGGCATGGCTGATGATAACGGG    c.600
 A  A  I  G |   V  L  V  L  S  W  Y  P  P  G  M  A  D  D  N  G      p.200

          .         .         .         .         .         .       g.6745
 GAGCCCTCAGATGACCTGGTGCCCGCCATTCTGGACACCGCCCATCAGTACAGCATCCAG       c.660
 E  P  S  D  D  L  V  P  A  I  L  D  T  A  H  Q  Y  S  I  Q         p.220

  | 03       .         .         .         .         .         .    g.7702
  | GTGGCCTTCCACATCCAACCCTACAAGGGCCGGGATGACATCACTGTACATGACAACATC    c.720
  | V  A  F  H  I  Q  P  Y  K  G  R  D  D  I  T  V  H  D  N  I      p.240

          .        | 04.         .                                  g.10785
 AAGTACATCATTGACAC | AACTGGAAAGCTGTGA                               c.753
 K  Y  I  I  D  T  |  T  G  K  L  X                                 p.250

          .         .         .         .         .         .       g.10845
 agaacttttgtgatgccaacaacctcatgttcatccccagtgtggggcctggctacatag       c.*60

          .         .         .         .         .         .       g.10905
 acaccagcattcggccctggaacaaccacaatacgcgcaacagggtcaatggcaagtact       c.*120

          .         .         .         .         .         .       g.10965
 atgagacggccctgcaggcggccctgacagtgaggcccgagatcgtttccattacctcct       c.*180

          .         .         .         .         .         .       g.11025
 tcaatgagtggcacgagggcacccagattgagaaggccattcccaagaagacacccaccc       c.*240

          .         .         .         .         .         .       g.11085
 gcctgtatttggactacctgcctcaccagcccagcctgtacctggagctgacacgccgct       c.*300

          .         .         .         .         .         .       g.11145
 gggcggagcacttcatcaaagagaaggagcagtggctcatgtgaggggcctgtaaatggg       c.*360

          .         .         .         .         .         .       g.11205
 cgtgaggtgctgatgtccttgccttgctggaagatgtcaccatgtggggttcagctgagg       c.*420

          .         .         .         .         .         .       g.11265
 ttgtagccactcactcgttcccaggtcagaggtcagcagatgggtgtttctgggtgggcc       c.*480

          .         .         .         .         .         .       g.11325
 gtcaggcatgggcctgtgcaacacagagcccgttcctcaggcgagtggtgctgaggtgct       c.*540

          .         .         .         .         .         .       g.11385
 ctgtggtgatgggaacggcagaggctggcaggtgactgaacttagcccagggcagctcca       c.*600

          .         .         .         .         .         .       g.11445
 catcctgggaacactttcatgtaaccccttctagttttgaactctgcagcaggctggtgc       c.*660

          .         .         .         .         .         .       g.11505
 tgtgtagtggccacccagtcaccacccttggaagggtgtcagggtctgggctcgcatgca       c.*720

          .         .         .         .         .         .       g.11565
 ccctgctcccttctgccagcctgcatcctctcctcaggcctccttcccacatcatctgtc       c.*780

          .         .         .         .         .         .       g.11625
 ttctctaagttagggaaccatatttgagactttcaaaaagggaacttctaggtttaagct       c.*840

          .         .         .         .         .         .       g.11685
 cctcccagtagattcctgaacccaattatcaggaaatcatcctgagcactcacaggttca       c.*900

          .         .         .         .         .         .       g.11745
 tttaacactcactcatcaagcaccttcctatgtgctaggtgctggggaaaacttgaccaa       c.*960

          .         .         .         .         .         .       g.11805
 ggaagagttcctgtcctgaagcttccaggacccagctttccttttctggtgtggccttgt       c.*1020

          .         .         .         .         .         .       g.11865
 agctagtgcctgggcacaggtgtttttctttttgcagttttacctagtgctgggagttca       c.*1080

          .         .         .         .         .         .       g.11925
 gttctttttcctctagaaaaatacctctgtgctccagagcctaatttttcccagatgcat       c.*1140

          .         .         .         .         .         .       g.11985
 atttagctctagggagaggactaggaggaaatccccctccctttagctgcctgaactgac       c.*1200

          .         .         .         .         .         .       g.12045
 tgaggcccactcactagagccatgttcagtgctactgtgattagtagtaattaaatatga       c.*1260

          .         .         .         .         .         .       g.12105
 actggtattctcaagtaagcattccttttgctctctttaagacctcacagattctgacct       c.*1320

          .         .         .         .         .         .       g.12165
 tagattctgtgacaaactgatacaggagctgggctggctatggctttaccacaacaagta       c.*1380

          .         .         .         .         .         .       g.12225
 ggtttgcttaagaaattactaaacaatggctgggcgtggtggctcactcctgtaatccca       c.*1440

          .         .         .         .         .         .       g.12285
 gcactttgggaggccgagatgggcggatcacgaggtcaggagatcgagaccatcctggct       c.*1500

          .         .         .         .         .         .       g.12345
 aacagggtgaaaccacgtctctactaaaaatacaaaaaaattagccaggcgtagtggtgg       c.*1560

          .         .         .         .         .         .       g.12405
 gcgcctgtagtcccagctacttgggaggctgaggcaggagaatggcgtgaacccgggagg       c.*1620

          .         .         .         .         .         .       g.12465
 cggagcttgcagtgagccgagatcacgccactgcactccagcctgggcgacagagcgaga       c.*1680

          .         .         .         .         .         .       g.12525
 ctccgtctcaaaaaaaaaaaagttactaaacaaggctgggcgtggtggctcacacctgta       c.*1740

                                                                    g.12532
 atcccag                                                            c.*1747

 (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 10^th nucleotide is indicated by a "." above the sequence. The Mannosidase, endo-alpha-like protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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.