collectin sub-family member 11 (COLEC11) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)

This file was created to facilitate the description of sequence variants in the COLEC11 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering COLEC11 transcript NM_024027.4.

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

 (upstream sequence)
                                                                    g.1003
                                                          aaa       c.-361

 .         .         .         .         .         .                g.1063
 aaagaaacaaaattgggatgttcgggttggagagttagcaggggcatctccaggagggtc       c.-301

 .         .         .         .         .         .                g.1123
 ctgccccccaccccaaagccggcctcagggagttccaggcgttcccacactccccaggca       c.-241

 .         .         .         .         .         .                g.1183
 ggacggtggacgcagcgcagacaggaagctccccgagataacgctgcggccgggcggcct       c.-181

 .         .         .         .         .         .                g.1243
 gatttgctgggctgtctgatggcccgggccgaggcttctccctgcgcctgggactgcggc       c.-121

 .         .         .         .         .         .                g.1303
 cgcctctctaaatagcagccatgaggcgcctgggggcagtgtcctcgcgggccagcgacg       c.-61

 .         .         .         .    | 02    .         .             g.10509
 ggcaggacgccccgttcgcctagcgcgtgctcag | gagttggtgtcctgcctgcgctcagg    c.-1

          .         .         .         .         .         .       g.10569
 ATGAGGGGGAATCTGGCCCTGGTGGGCGTTCTAATCAGCCTGGCCTTCCTGTCACTGCTG       c.60
 M  R  G  N  L  A  L  V  G  V  L  I  S  L  A  F  L  S  L  L         p.20

          .         .         .         .         .         .       g.10629
 CCATCTGGACATCCTCAGCCGGCTGGCGATGACGCCTGCTCTGTGCAGATCCTCGTCCCT       c.120
 P  S  G  H  P  Q  P  A  G  D  D  A  C  S  V  Q  I  L  V  P         p.40

          . | 03       .         .         .         .         .    g.19529
 GGCCTCAAAG | GGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGA    c.180
 G  L  K  G |   D  A  G  E  K  G  D  K  G  A  P  G  R  P  G  R      p.60

          .         .   | 04     .         .         .         .    g.43739
 GTCGGCCCCACGGGAGAAAAAG | GAGACATGGGGGACAAAGGACAGAAAGGCAGTGTGGGT    c.240
 V  G  P  T  G  E  K  G |   D  M  G  D  K  G  Q  K  G  S  V  G      p.80

          .         .         .     | 05   .         .         .    g.46472
 CGTCATGGAAAAATTGGTCCCATTGGCTCTAAAG | GTGAGAAAGGAGATTCCGGTGACATA    c.300
 R  H  G  K  I  G  P  I  G  S  K  G |   E  K  G  D  S  G  D  I      p.100

          .         .         | 06         .         .         .    g.49644
 GGACCCCCTGGTCCTAATGGAGAACCAG | GCCTCCCATGTGAGTGCAGCCAGCTGCGCAAG    c.360
 G  P  P  G  P  N  G  E  P  G |   L  P  C  E  C  S  Q  L  R  K      p.120

          .         .         .         .         .         .       g.49704
 GCCATCGGGGAGATGGACAACCAGGTCTCTCAGCTGACCAGCGAGCTCAAGTTCATCAAG       c.420
 A  I  G  E  M  D  N  Q  V  S  Q  L  T  S  E  L  K  F  I  K         p.140

      | 07   .         .         .         .         .         .    g.49951
 AATG | CTGTCGCCGGTGTGCGCGAGACGGAGAGCAAGATCTACCTGCTGGTGAAGGAGGAG    c.480
 N  A |   V  A  G  V  R  E  T  E  S  K  I  Y  L  L  V  K  E  E      p.160

          .         .         .         .         .         .       g.50011
 AAGCGCTACGCGGACGCCCAGCTGTCCTGCCAGGGCCGCGGGGGCACGCTGAGCATGCCC       c.540
 K  R  Y  A  D  A  Q  L  S  C  Q  G  R  G  G  T  L  S  M  P         p.180

          .         .         .         .         .         .       g.50071
 AAGGACGAGGCTGCCAATGGCCTGATGGCCGCATACCTGGCGCAAGCCGGCCTGGCCCGT       c.600
 K  D  E  A  A  N  G  L  M  A  A  Y  L  A  Q  A  G  L  A  R         p.200

          .         .         .         .         .         .       g.50131
 GTCTTCATCGGCATCAACGACCTGGAGAAGGAGGGCGCCTTCGTGTACTCTGACCACTCC       c.660
 V  F  I  G  I  N  D  L  E  K  E  G  A  F  V  Y  S  D  H  S         p.220

          .         .         .         .         .         .       g.50191
 CCCATGCGGACCTTCAACAAGTGGCGCAGCGGTGAGCCCAACAATGCCTACGACGAGGAG       c.720
 P  M  R  T  F  N  K  W  R  S  G  E  P  N  N  A  Y  D  E  E         p.240

          .         .         .         .         .         .       g.50251
 GACTGCGTGGAGATGGTGGCCTCGGGCGGCTGGAACGACGTGGCCTGCCACACCACCATG       c.780
 D  C  V  E  M  V  A  S  G  G  W  N  D  V  A  C  H  T  T  M         p.260

          .         .         .                                     g.50287
 TACTTCATGTGTGAGTTTGACAAGGAGAACATGTGA                               c.816
 Y  F  M  C  E  F  D  K  E  N  M  X                                 p.271

          .         .         .         .         .         .       g.50347
 gcctcaggctggggctgcccattgggggccccacatgtccctgcagggttggcagggaca       c.*60

          .         .         .         .         .         .       g.50407
 gagcccagaccatggtgccagccagggagctgtccctctgtgaagggtggaggctcactg       c.*120

          .         .         .         .         .         .       g.50467
 agtagagggctgttgtctaaactgagaaaatggcctatgcttaagaggaaaatgaaagtg       c.*180

          .         .         .         .         .         .       g.50527
 ttcctggggtgctgtctctgaagaagcagagtttcattacctgtattgtagccccaatgt       c.*240

          .         .         .         .         .         .       g.50587
 cattatgtaattattacccagaattgctcttccataaagcttgtgcctttgtccaagcta       c.*300

          .         .         .         .         .         .       g.50647
 tacaataaaatctttaagtagtgcagtagttaagtccaaatagtggcaatggggtcttga       c.*360

          .         .         .         .         .         .       g.50707
 attactaccttttaatttctatatggaaaagaactcactttgaccaacacttctgtaaat       c.*420

          .         .         .         .         .         .       g.50767
 tacattacaatataggttccttcacactattatccatgtaaaaacaattttgctttgctt       c.*480

          .         .         .         .                           g.50813
 caaacccagatttcaggaaaacaacaacaaaattctccaaacttta                     c.*526

 (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 Collectin sub-family member 11 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.