ring finger protein 170 (RNF170) - coding DNA reference sequence

(used for variant description)

(last modified February 3, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_030954.3 in the RNF170 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering RNF170 transcript NM_030954.3.

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

 (upstream sequence)
                                                                    g.5007
                                                      agttcgc       c.-241

 .         .         .         .         .         .                g.5067
 tgcgtgtcgaggcgagcacgcgctccgccctggaggctgcggcgacgggtcctcctccgc       c.-181

 .         .         .         .         .         .                g.5127
 cgtccggtcgcgccctcgcggaagctcggcagtgcgcgtgcgcccgcacccgcactccaa       c.-121

 .         .         .         .         .         .                g.5187
 attagaaaggggacgtctagtgggttgcccgggaggggtggcgggagcggtcctggaaat       c.-61

 .         .         .         .         .         .   | 02         g.13859
 aatctgtcctctgtcgccgggaactggcgaggtagttccttcgcggtggagag | acctgga    c.-1

          .         .         .         .         .         .       g.13919
 ATGGCCAAATATCAAGGTGAAGTTCAAAGTTTGAAACTGGATGATGATTCAGTTATAGAA       c.60
 M  A  K  Y  Q  G  E  V  Q  S  L  K  L  D  D  D  S  V  I  E         p.20

          .         .         .         .         .         .       g.13979
 GGAGTAAGCGACCAAGTACTTGTGGCAGTTGTGGTCAGTTTCGCTTTGATTGCTACCCTG       c.120
 G  V  S  D  Q  V  L  V  A  V  V  V  S  F  A  L  I  A  T  L         p.40

          .        | 03.         .         .         .         .    g.27760
 GTATATGCACTTTTCAG | AAATGTACATCAAAACATTCACCCAGAAAACCAGGAGCTAGTA    c.180
 V  Y  A  L  F  R  |  N  V  H  Q  N  I  H  P  E  N  Q  E  L  V      p.60

          .         .         .    | 04    .         .         .    g.31638
 AGGGTACTTCGAGAACAGCTTCAAACAGAACAG | GATGCACCTGCTGCCACTCGACAGCAG    c.240
 R  V  L  R  E  Q  L  Q  T  E  Q   | D  A  P  A  A  T  R  Q  Q      p.80

          .         .         .         .         .         .       g.31698
 TTCTACACTGACATGTACTGTCCCATCTGCCTGCACCAAGCCTCCTTCCCGGTGGAGACC       c.300
 F  Y  T  D  M  Y  C  P  I  C  L  H  Q  A  S  F  P  V  E  T         p.100

          .         .   | 05     .         .         .         .    g.36272
 AACTGTGGACATCTTTTTTGTG | GTGCCTGCATTATTGCTTACTGGCGATATGGTTCATGG    c.360
 N  C  G  H  L  F  C  G |   A  C  I  I  A  Y  W  R  Y  G  S  W      p.120

          .         .         .       | 06 .         .         .    g.39892
 CTTGGGGCAATCAGTTGTCCAATCTGTAGACAAACG | GTAACCTTACTCCTAACAGTATTT    c.420
 L  G  A  I  S  C  P  I  C  R  Q  T   | V  T  L  L  L  T  V  F      p.140

          .         .         .         .         .         .       g.39952
 GGTGAAGATGATCAGTCTCAGGATGTTCTGAGATTGCATCAGGATATTAATGATTATAAC       c.480
 G  E  D  D  Q  S  Q  D  V  L  R  L  H  Q  D  I  N  D  Y  N         p.160

          .         .        | 07.         .         .         .    g.45328
 CGGAGATTCTCAGGGCAACCCAGATCT | ATTATGGAGAGAATTATGGATCTACCCACTTTA    c.540
 R  R  F  S  G  Q  P  R  S   | I  M  E  R  I  M  D  L  P  T  L      p.180

          .         .         .         .         .         .       g.45388
 CTGAGGCATGCATTCAGGGAAATGTTTTCAGTCGGGGGCCTTTTCTGGATGTTTCGCATC       c.600
 L  R  H  A  F  R  E  M  F  S  V  G  G  L  F  W  M  F  R  I         p.200

          .         .         .         .         .         .       g.45448
 AGGATAATACTTTGTTTAATGGGAGCTTTTTTCTATCTTATATCACCTCTAGATTTTGTA       c.660
 R  I  I  L  C  L  M  G  A  F  F  Y  L  I  S  P  L  D  F  V         p.220

          .         .         .         .         .         .       g.45508
 CCTGAAGCCTTGTTTGGAATTCTAGGCTTTCTAGATGATTTCTTTGTCATCTTTTTATTG       c.720
 P  E  A  L  F  G  I  L  G  F  L  D  D  F  F  V  I  F  L  L         p.240

          .         .         .         .         .                 g.45565
 CTTATCTACATCTCTATTATGTATCGAGAAGTGATAACCCAAAGGCTAACTAGATGA          c.777
 L  I  Y  I  S  I  M  Y  R  E  V  I  T  Q  R  L  T  R  X            p.258

          .         .         .         .         .         .       g.45625
 aaaagaaaacaaaactgagtttactaggatatctgagctaatgtagaacatcaaacagaa       c.*60

          .         .         .         .         .         .       g.45685
 ggacccatggcagtataaagcaatgaagcaatggagtattatctcacaaatataaaacca       c.*120

          .         .         .         .         .         .       g.45745
 ctataagacaaacatttgattatcatttgacaaatacctaggtataactggaattttcat       c.*180

          .         .         .         .         .         .       g.45805
 gtttgaagttctaatattaagtttagaattataatgatctacagttgtatcttgattcta       c.*240

          .         .         .         .         .         .       g.45865
 tgttgtctggaaaaaatatggaattatataaaaagggatgcttttatatatttttctttt       c.*300

          .         .         .         .         .         .       g.45925
 ccccagaattacttagattaattagatgtatagtaaaatattgttaaatgtcagtttatc       c.*360

          .         .         .         .         .         .       g.45985
 catcttatccttctcagcaggtacctatatgataatatatagctgtgaaactcatctaaa       c.*420

          .         .         .         .         .         .       g.46045
 tatttttgttccaataaaatattatatactattggggaaaattcagtatttcttttagtg       c.*480

          .         .         .         .         .         .       g.46105
 ctagctaagttttgtgcatttggagcagttctgccttttcattctggtataattaattat       c.*540

          .         .         .         .         .         .       g.46165
 ttgctatcagctgaaactgaaagaagaaacttgaacttcatacttcgatatcatattcta       c.*600

          .         .         .         .         .         .       g.46225
 gtttacagaacacattttaatcaatagaagaattaagatgaaaaacatggccgggcgggg       c.*660

          .         .         .         .         .         .       g.46285
 tggctcacgcctgtaatcctagcactttgggaggctgaggcgggtagatcacaaggtcag       c.*720

          .         .         .         .         .         .       g.46345
 gagatcaggaccatcctggctaacatggtgaaaccccgtctctactaaaaatacaaaaaa       c.*780

          .         .         .         .         .         .       g.46405
 ttagccaggcgtggtggcaggcgcctgtagtcccagctactcgggaggctgaggcagaag       c.*840

          .         .         .         .         .         .       g.46465
 aatggcgtaaacccaggaggtggattgcgccactgcactccagcctgggcaacagagtga       c.*900

          .         .         .         .         .         .       g.46525
 gactccctctcaaaaaaaaaaaaaaaaaagatgaaaaacatttatctccagtcagcacac       c.*960

          .         .         .         .         .         .       g.46585
 ttgatgttcacagttagacatttaaacaagagctcatcctttcgtagtagatataaaagt       c.*1020

          .         .         .         .         .         .       g.46645
 aatttgtaaagggaagattgttttaggaacctgggcgatgctgcaaacacagagtagcct       c.*1080

          .         .         .         .         .         .       g.46705
 gatgcatttctgaggaaggtgaatcttcgtgtctttgagcatcaagccaataggaaggta       c.*1140

          .         .         .         .         .         .       g.46765
 ctgggaacggtatttacatttgacaaaagaaattactggttagctatagcaacagattgg       c.*1200

          .         .         .         .         .         .       g.46825
 acaaattttgttagttttctgttgtcagaaatttttataatactgtctcaggatggcagc       c.*1260

          .         .         .         .         .         .       g.46885
 acacagctcagattcatgtcttgagccaaacaagtgaatgtatctgagaagactcagtac       c.*1320

          .         .         .         .         .         .       g.46945
 cacatggtactgggagatcttactcacttcagctggcgttgctcattagtgaatgtatga       c.*1380

          .         .         .         .         .         .       g.47005
 cagcaggatgtgaggggatgcccaggagtcagtgttagcattgtcatctgagatcactgc       c.*1440

          .         .         .         .         .         .       g.47065
 tattaatatcatccattaatttattagtgagcttcactatatgcagactgggagataagg       c.*1500

          .         .         .         .         .         .       g.47125
 agaaaatctgtcacattctctctagctaatcagatcagctaccaattaatgagattctga       c.*1560

          .         .         .         .         .         .       g.47185
 atgaaatatcaatatgtgtttttctaatttggacctaggacagagctgttgcttgtcata       c.*1620

          .         .         .         .         .         .       g.47245
 gagaaaaacaataatgcttaaacatagcacattataattaaagcaggtttctcacatact       c.*1680

          .         .         .         .         .         .       g.47305
 tttcattttatcctttggataattttgtgaggaacgcaggacaccaacttccctttcata       c.*1740

          .         .         .         .         .         .       g.47365
 gatacaatccccatgctattgatgaaagtgtttttgaatgaagtcatacaacaaataact       c.*1800

          .         .         .         .         .         .       g.47425
 gatcaaagtggcattacaccaaaatttcttagtaggactcctgcatagaatgtttagata       c.*1860

          .         .         .         .         .         .       g.47485
 gacgtgaaagttgttaagaggaacagcaagagagaaactggttctttggaagtctttcgt       c.*1920

          .         .         .         .         .         .       g.47545
 gctacattatacctccatcagagtaagacagcttaggcactcctaagaggaaaggtctgt       c.*1980

          .         .         .         .         .         .       g.47605
 ggagatgacatgaatccgaattctacacttccaaatcaaataggtaaaagggtggcatac       c.*2040

          .         .         .         .         .         .       g.47665
 atcacagaaaaacatttcagctgcagtcaccaacttgaaaagcgagtgagtaggagtttg       c.*2100

          .         .         .         .         .         .       g.47725
 tcacactgccatgtaccagactggaaatgcatttcctaccaattacacatttggtgtggg       c.*2160

          .         .         .         .         .         .       g.47785
 ggaatggtgatgtcattttttgacaggattttattttgtgtgcatgcattctgctccaag       c.*2220

          .         .         .         .         .         .       g.47845
 tgtcacaattctggttacaataattataatatttggagttactactaagactttcctgaa       c.*2280

          .         .         .         .         .         .       g.47905
 agaggtgtattgtaccaaattttgtaacataaaaaaatactaaatgatcttaaagcttcc       c.*2340

          .         .         .         .         .         .       g.47965
 taaattgtgaaaagggtatgtgctaacatctcagaactttagacctgcttgttgtcatct       c.*2400

          .         .         .         .         .         .       g.48025
 ttaccgatctctgatgataaatgcagaagggatctgagagtttttaaagcaagtagagtc       c.*2460

          .         .         .         .         .         .       g.48085
 aatcagagttttgaacatcatagtaatacttccgtgattcagagttagatcatataaatc       c.*2520

          .         .         .         .         .         .       g.48145
 aaagtaacaatttggattttttttaaacaacaatatcataactgtcataaaacagatggt       c.*2580

          .         .         .         .         .         .       g.48205
 ccaaccccaggagcagataataacttgggcagctctgtggggaacaagacggggaaaaca       c.*2640

          .         .         .         .         .         .       g.48265
 actgttctaactgcccactagaacagtggtttcaactactacaattctcagtgtttgaga       c.*2700

          .         .         .         .         .         .       g.48325
 ggtacaagggaagaaaggactatgtggatcccttgtggctatgcagatacctacctcaca       c.*2760

          .         .         .         .         .         .       g.48385
 gagttgttgtagaagactggtggtttggttcaaaccttgtgattaaagagtttgtcaagc       c.*2820

          .         .         .         .                           g.48430
 attttattcttttgaataaaagcaacatatctaaaacattttaaa                      c.*2865

 (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 Ring finger protein 170 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.