ret finger protein-like 1 (RFPL1) - coding DNA reference sequence

(used for variant description)

(last modified June 21, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_021026.2 in the RFPL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000022.10, covering RFPL1 transcript NM_021026.2.

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

 (upstream sequence)
                                         .         .                g.5029
                                gccgtgtcactggctcaggctcagttgct       c.-181

 .         .         .         .         .         .                g.5089
 gggtcaccagtagaatggacccttcctccacctcagttcagagcacagtgatgattcgtg       c.-121

 .         .         .         .         .         .                g.5149
 actttctttcccaatagaacttcaaatctctgaagacggggggtggggggatgtgcttga       c.-61

 .         .         .         .         .         .                g.5209
 gtgtttgtactcatggtcttgttctagaagtgacaaagctgggacacaatacctttatgc       c.-1

          .         .         .         .         .         .       g.5269
 ATGAAAAGGTTGTCACTTGTCACAACTAACAGGCTTTCACCTCACGGAAATTTTCTTCCC       c.60
 M  K  R  L  S  L  V  T  T  N  R  L  S  P  H  G  N  F  L  P         p.20

          .         .         .         .         .         .       g.5329
 TTGTGCACTTTTCCCCTGGCAGTGGACATGGCTGCACTCTTCCAAGAAGCAAGCAGCTGT       c.120
 L  C  T  F  P  L  A  V  D  M  A  A  L  F  Q  E  A  S  S  C         p.40

          .         .         .         .         .         .       g.5389
 CCCGTCTGCTCAGACTATCTAGAGAAACCAATGTCCCTGGAGTGTGGATGCGCTGTCTGC       c.180
 P  V  C  S  D  Y  L  E  K  P  M  S  L  E  C  G  C  A  V  C         p.60

          .         .         .         .         .         .       g.5449
 TTCAAGTGCATCAATTCACTGCAGAAGGAGCCCCATGGGGAGGATCTACTTTGCTGTTGC       c.240
 F  K  C  I  N  S  L  Q  K  E  P  H  G  E  D  L  L  C  C  C         p.80

          .         .         .         .         .         .       g.5509
 TGTTCCATGGTCTCTCAGAAGAACAAAATCAGGCCCAGTTGGCAGCTAGAGAGGCTGGCT       c.300
 C  S  M  V  S  Q  K  N  K  I  R  P  S  W  Q  L  E  R  L  A         p.100

          .         .         .         .         .         .       g.5569
 TCCCACATCAAGGAACTGGAGCCCAAGCTGAAGAAGATTCTGCAGATGAACCCAAGGATG       c.360
 S  H  I  K  E  L  E  P  K  L  K  K  I  L  Q  M  N  P  R  M         p.120

          .    | 02    .         .         .         .         .    g.8006
 CGGAAGTTCCAAG | TGGATATGACCTTGGATGCCGACACAGCCAACAACTTCCTCCTCATT    c.420
 R  K  F  Q  V |   D  M  T  L  D  A  D  T  A  N  N  F  L  L  I      p.140

          .         .         .         .         .         .       g.8066
 TCTGACGACCTCAGGAGCGTCCGAAGTGGGTGCATCACACAGAATCGGCAAGACCTTGCC       c.480
 S  D  D  L  R  S  V  R  S  G  C  I  T  Q  N  R  Q  D  L  A         p.160

          .         .         .         .         .         .       g.8126
 GAGAGATTTGACGTGTCCATTTGCATCCTGGGCTCCCCTCGCTTTACCTGTGGCCGCCAC       c.540
 E  R  F  D  V  S  I  C  I  L  G  S  P  R  F  T  C  G  R  H         p.180

          .         .         .         .         .         .       g.8186
 TACTGGGAGGTGGACGTGGGAACAAGCACAGAATGGGACCTGGGAGTCTGCAGAGAATCT       c.600
 Y  W  E  V  D  V  G  T  S  T  E  W  D  L  G  V  C  R  E  S         p.200

          .         .         .         .         .         .       g.8246
 GTTCACCGCAAAGGGAGGATCCATCTGACCACAGAGCGTGGATTCTGGACTGTGAGTTTG       c.660
 V  H  R  K  G  R  I  H  L  T  T  E  R  G  F  W  T  V  S  L         p.220

          .         .         .         .         .         .       g.8306
 AGGGATGGAAGCCGCCTCTCTGCCAGCACGGTGCCGCTGACTTTCCTCTTCGTAGACCGC       c.720
 R  D  G  S  R  L  S  A  S  T  V  P  L  T  F  L  F  V  D  R         p.240

          .         .         .         .         .         .       g.8366
 AAGTTACAGCGAGTGGGGATTTTTCTGGATATGGGCATGCAGAACGTTTCCTTTTTTGAT       c.780
 K  L  Q  R  V  G  I  F  L  D  M  G  M  Q  N  V  S  F  F  D         p.260

          .         .         .         .         .         .       g.8426
 GCTGAAGGTGGTTCCCATGTCTATACATTCAGGAGTGTCTCTGCTGAGGAGCCACTGCAC       c.840
 A  E  G  G  S  H  V  Y  T  F  R  S  V  S  A  E  E  P  L  H         p.280

          .         .         .         .         .         .       g.8486
 TTGTTTTTTGCTCCTCCAAGTCCACCTAATGGTGATAAGAGTGTCTTGAGTATCTGTCCT       c.900
 L  F  F  A  P  P  S  P  P  N  G  D  K  S  V  L  S  I  C  P         p.300

          .         .         .         .         .                 g.8540
 GTGATAAACCCGGGCACTACTGATGCTCCAGTCCATCCTGGGGAGGCCAAATAA             c.954
 V  I  N  P  G  T  T  D  A  P  V  H  P  G  E  A  K  X               p.317

          .         .         .         .         .         .       g.8600
 gcccccactgcaaaaaaacaaaaaacaggttaagaaaattacttgggtgggcagacttag       c.*60

          .         .         .         .         .         .       g.8660
 gaacgctctactcggtaaaagcgttatacaaagtcataggagaaaaatatgggacaattc       c.*120

          .         .         .         .         .         .       g.8720
 atgattatacttaatctaatttgattagtttataaattgagtcctaagtattaattattg       c.*180

          .         .         .         .         .         .       g.8780
 ccaccatccaactcattgagtcttatggttcacatcttgtttcctatagaaatattctgt       c.*240

          .         .         .         .         .         .       g.8840
 attctgggatcaatttccaaatgcttttttatttctgtaagttcaaattaatgtattata       c.*300

          .         .         .                                     g.8873
 gaagttatgagttaaataaacattggaatatca                                  c.*333

 (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 Ret finger protein-like 1 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.