ferric-chelate reductase 1-like (FRRS1L) - coding DNA reference sequence

(used for variant description)

(last modified June 24, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_014334.2 in the FRRS1L gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_051235.1, covering FRRS1L transcript NM_014334.2.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGCGCAGACCGAGGCAGGGAGGCGGGGGTGCGGGAGGCTCCGCGGCTGCGCGGGCGCGT       c.60
 M  R  R  P  R  Q  G  G  G  G  A  G  G  S  A  A  A  R  A  R         p.20

          .         .         .         .         .         .       g.120
 GCTGGTGGCCTCGGCGGAGGCTCAGTCCCGGCCCGCGCCCGCGGCGCCCCCGCTGCGGCC       c.120
 A  G  G  L  G  G  G  S  V  P  A  R  A  R  G  A  P  A  A  A         p.40

          .         .         .         .         .         .       g.180
 CGAGCGGCCTGGCTGCGGGATCTGTGCGCACGGATGGCGCGGCCGCCCCGGCAGCACCCG       c.180
 R  A  A  W  L  R  D  L  C  A  R  M  A  R  P  P  R  Q  H  P         p.60

          .         .         .         .         .         .       g.240
 GGGGTCTGGGCGTCGCTGCTCCTGCTGCTACTGACGGGGCCCGCCGCCTGCGCAGCCAGC       c.240
 G  V  W  A  S  L  L  L  L  L  L  T  G  P  A  A  C  A  A  S         p.80

          .         .         .         .         .         .       g.300
 CCCGCGGACGACGGTGCGGGCCCGGGGGGCCGGGGACCCCGGGGACGCGCGCGGGGGGAC       c.300
 P  A  D  D  G  A  G  P  G  G  R  G  P  R  G  R  A  R  G  D         p.100

          .         .         .         .         .         .       g.360
 ACGGGCGCCGACGAGGCGGTGCCGCGCCACGACTCCTCCTACGGCACCTTCGCGGGGGAG       c.360
 T  G  A  D  E  A  V  P  R  H  D  S  S  Y  G  T  F  A  G  E         p.120

          .         .         .  | 02      .         .         .    g.17600
 TTCTACGACCTGCGCTACCTGTCGGAGGAGG | GTTACCCCTTCCCTACTGCTCCTCCTGTG    c.420
 F  Y  D  L  R  Y  L  S  E  E  G |   Y  P  F  P  T  A  P  P  V      p.140

          .         .         .         .         .       | 03 .    g.20106
 GATCCATTTGCCAAAATCAAAGTGGACGACTGTGGAAAAACTAAGGGATGCTTTAG | ATAT    c.480
 D  P  F  A  K  I  K  V  D  D  C  G  K  T  K  G  C  F  R  |  Y      p.160

          .         .         .         .         .         .       g.20166
 GGCAAACCAGGCTGTAATGCAGAGACCTGTGACTATTTCCTCAGCTACCGGATGATAGGG       c.540
 G  K  P  G  C  N  A  E  T  C  D  Y  F  L  S  Y  R  M  I  G         p.180

          .         .         .         .         .         .       g.20226
 GCTGATGTAGAATTTGAGCTGAGTGCAGACACAGATGGTTGGGTAGCAGTTGGATTCTCT       c.600
 A  D  V  E  F  E  L  S  A  D  T  D  G  W  V  A  V  G  F  S         p.200

          .      | 04  .         .         .         .         .    g.25747
 TCAGACAAGAAAATG | GGTGGTGATGATGTCATGGCCTGCGTCCATGATGACAATGGCAGG    c.660
 S  D  K  K  M   | G  G  D  D  V  M  A  C  V  H  D  D  N  G  R      p.220

          .         .         .         .         .         .       g.25807
 GTCCGCATACAGCACTTCTATAATGTAGGCCAGTGGGCAAAGGAGATTCAGAGAAACCCT       c.720
 V  R  I  Q  H  F  Y  N  V  G  Q  W  A  K  E  I  Q  R  N  P         p.240

          .         .         .         .         .         .       g.25867
 GCCAGAGATGAAGAAGGAGTTTTTGAGAACAATCGCGTCACCTGCAGATTTAAACGCCCT       c.780
 A  R  D  E  E  G  V  F  E  N  N  R  V  T  C  R  F  K  R  P         p.260

          .         .         .         .         .         .       g.25927
 GTGAATGTTCCCAGAGATGAAACAATTGTTGATCTGCATTTGAGTTGGTATTATCTGTTT       c.840
 V  N  V  P  R  D  E  T  I  V  D  L  H  L  S  W  Y  Y  L  F         p.280

          .         .   | 05     .         .         .         .    g.29702
 GCTTGGGGTCCAGCCATTCAGG | GCTCTATCACTCGACATGATATAGACTCACCGCCGGCT    c.900
 A  W  G  P  A  I  Q  G |   S  I  T  R  H  D  I  D  S  P  P  A      p.300

          .         .         .         .         .         .       g.29762
 TCAGAGCGTGTTGTCAGTATTTACAAGTATGAAGACATTTTTATGCCATCAGCTGCCTAT       c.960
 S  E  R  V  V  S  I  Y  K  Y  E  D  I  F  M  P  S  A  A  Y         p.320

          .         .         .         .         .         .       g.29822
 CAAACCTTCTCATCTCCATTTTGTTTGCTTCTGATTGTTGCTCTGACCTTCTACCTATTG       c.1020
 Q  T  F  S  S  P  F  C  L  L  L  I  V  A  L  T  F  Y  L  L         p.340

          .                                                         g.29837
 ATGGGAACCCCCTAA                                                    c.1035
 M  G  T  P  X                                                      p.344

          .         .         .         .         .         .       g.29897
 ccacagctgcagggccaacagattacatggattgggaagtctttagtataaatatatttt       c.*60

          .         .         .         .         .         .       g.29957
 ttaaagaatatccagtataattttagcttcaattatttaagaaaaaaaacctcatataat       c.*120

          .         .         .                                     g.29991
 ttcagctttttggaagaaagaacaagcttctttt                                 c.*154

 (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 Ferric-chelate reductase 1-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.