fat storage-inducing transmembrane protein 2 (FITM2) - coding DNA reference sequence

(used for variant description)

(last modified September 22, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001080472.1 in the FITM2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.10, covering FITM2 transcript NM_001080472.1.

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

 (upstream sequence)
                     .         .         .         .                g.5041
                    gcgcatgcgctcgaagggaggtggaggcgcaggtccgggcg       c.-61

 .         .         .         .         .         .                g.5101
 aagggcgatacggtggccgagagggcacggagaggaggacggtggctgacgagatccggc       c.-1

          .         .         .         .         .         .       g.5161
 ATGGAGCATCTGGAGCGCTGCGAGTGGTTGTTGCGGGGAACGCTGGTGCGGGCGGCCGTG       c.60
 M  E  H  L  E  R  C  E  W  L  L  R  G  T  L  V  R  A  A  V         p.20

          .         .         .         .         .         .       g.5221
 CGGCGCTACCTGCCCTGGGCCCTGGTGGCCTCCATGCTGGCGGGCTCCCTCCTCAAGGAG       c.120
 R  R  Y  L  P  W  A  L  V  A  S  M  L  A  G  S  L  L  K  E         p.40

          .         .         .         .         .    | 02    .    g.9016
 TTGTCCCCGTTGCCCGAGAGCTACCTCAGCAACAAGCGCAACGTCCTCAACGT | GTATTTT    c.180
 L  S  P  L  P  E  S  Y  L  S  N  K  R  N  V  L  N  V  |  Y  F      p.60

          .         .         .         .         .         .       g.9076
 GTCAAAGTGGCCTGGGCCTGGACGTTCTGTCTCCTTCTGCCTTTCATTGCCCTCACCAAC       c.240
 V  K  V  A  W  A  W  T  F  C  L  L  L  P  F  I  A  L  T  N         p.80

          .         .         .         .         .         .       g.9136
 TACCATCTGACCGGCAAGGCTGGCTTGGTCCTGCGGCGGCTGAGCACCCTGCTTGTGGGC       c.300
 Y  H  L  T  G  K  A  G  L  V  L  R  R  L  S  T  L  L  V  G         p.100

          .         .         .         .         .         .       g.9196
 ACGGCCATCTGGTACATCTGCACCTCCATCTTCTCCAACATCGAACACTACACGGGCAGC       c.360
 T  A  I  W  Y  I  C  T  S  I  F  S  N  I  E  H  Y  T  G  S         p.120

          .         .         .         .         .         .       g.9256
 TGCTACCAGTCCCCAGCCCTGGAGGGGGTCAGAAAGGAACACCAGAGCAAGCAGCAGTGC       c.420
 C  Y  Q  S  P  A  L  E  G  V  R  K  E  H  Q  S  K  Q  Q  C         p.140

          .         .         .         .         .         .       g.9316
 CACCAGGAAGGGGGCTTTTGGCATGGCTTTGACATCTCAGGTCACTCCTTCCTGCTGACC       c.480
 H  Q  E  G  G  F  W  H  G  F  D  I  S  G  H  S  F  L  L  T         p.160

          .         .         .         .         .         .       g.9376
 TTCTGCGCCCTCATGATTGTAGAAGAGATGTCTGTGCTGCATGAGGTGAAGACGGACCGA       c.540
 F  C  A  L  M  I  V  E  E  M  S  V  L  H  E  V  K  T  D  R         p.180

          .         .         .         .         .         .       g.9436
 AGCCACTGCCTCCACACCGCCATCACCACCCTGGTTGTGGCCCTGGGCATTCTGACTTTC       c.600
 S  H  C  L  H  T  A  I  T  T  L  V  V  A  L  G  I  L  T  F         p.200

          .         .         .         .         .         .       g.9496
 ATCTGGGTGTTGATGTTTCTGTGCACAGCTGTTTATTTCCACAACTTGTCCCAGAAGGTG       c.660
 I  W  V  L  M  F  L  C  T  A  V  Y  F  H  N  L  S  Q  K  V         p.220

          .         .         .         .         .         .       g.9556
 TTTGGCACCTTGTTTGGTTTGCTGAGCTGGTACGGGACATACGGGTTTTGGTATCCGAAA       c.720
 F  G  T  L  F  G  L  L  S  W  Y  G  T  Y  G  F  W  Y  P  K         p.240

          .         .         .         .         .         .       g.9616
 GCCTTTTCCCCAGGACTTCCTCCCCAGAGCTGTAGTTTGAATTTGAAGCAAGATAGTTAC       c.780
 A  F  S  P  G  L  P  P  Q  S  C  S  L  N  L  K  Q  D  S  Y         p.260

                                                                    g.9625
 AAGAAATAA                                                          c.789
 K  K  X                                                            p.262

          .         .         .         .         .         .       g.9685
 aagagtaacagaggggggacagaaggacaatggctaatctatttttcaaatatatatttt       c.*60

                                                                    g.9693
 gcttagtt                                                           c.*68

 (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 Fat storage-inducing transmembrane protein 2 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.