family with sequence similarity 58, member A (FAM58A) - coding DNA reference sequence

(used for variant description)

(last modified March 28, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_152274.3 in the FAM58A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008393.1, covering FAM58A transcript NM_152274.3.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  ggacgcggccgggtggggcggcacgcccgccgcgagcacctcc       c.-61

 .         .         .         .         .         .                g.5103
 agttctgccggcttctgcgcgccggggccgcctctccttccgccggtgccgcggcgcctc       c.-1

          .         .         .         .         .         .       g.5163
 ATGGAAGCCCCGGAGGGCGGCGGAGGGGGGCCTGCAGCGCGGGGCCCGGAGGGGCAGCCG       c.60
 M  E  A  P  E  G  G  G  G  G  P  A  A  R  G  P  E  G  Q  P         p.20

          .         .         .         .         .   | 02     .    g.7997
 GCGCCCGAAGCCAGGGTGCACTTCCGAGTGGCGAGGTTCATCATGGAGGCAG | GTGTCAAG    c.120
 A  P  E  A  R  V  H  F  R  V  A  R  F  I  M  E  A  G |   V  K      p.40

          .         .         .         .         .         .       g.8057
 CTAGGGATGCGGTCCATTCCCATTGCCACTGCTTGCACCATTTACCATAAGTTCTTTTGC       c.180
 L  G  M  R  S  I  P  I  A  T  A  C  T  I  Y  H  K  F  F  C         p.60

          .         .         .         .         .         .       g.8117
 GAGACCAACCTGGACGCCTATGACCCTTACCTGATTGCCATGTCTTCAATTTACTTGGCC       c.240
 E  T  N  L  D  A  Y  D  P  Y  L  I  A  M  S  S  I  Y  L  A         p.80

          .         .         .         .         .       | 03 .    g.9501
 GGCAAAGTGGAAGAGCAGCACCTGCGGACTCGTGACATCATCAATGTGTCCAACAG | GTAC    c.300
 G  K  V  E  E  Q  H  L  R  T  R  D  I  I  N  V  S  N  R  |  Y      p.100

          .         .         .         .         .         .       g.9561
 TTTAACCCAAGCGGTGAGCCCCTGGAATTGGACTCCCGCTTCTGGGAACTCCGGGACAGC       c.360
 F  N  P  S  G  E  P  L  E  L  D  S  R  F  W  E  L  R  D  S         p.120

          .         .         .         .         .         .       g.9621
 ATCGTGCAGTGTGAGCTTCTCATGCTGAGAGTTCTGCGCTTCCAGGTCTCCTTCCAGCAT       c.420
 I  V  Q  C  E  L  L  M  L  R  V  L  R  F  Q  V  S  F  Q  H         p.140

           | 04        .         .         .         .         .    g.11494
 CCACACAAG | TACCTGCTCCACTACCTGGTTTCCCTCCAGAACTGGCTGAACCGCCACAGC    c.480
 P  H  K   | Y  L  L  H  Y  L  V  S  L  Q  N  W  L  N  R  H  S      p.160

          .         .         .         .         .         .       g.11554
 TGGCAGCGGACCCCTGTTGCCGTCACCGCCTGGGCCCTGCTGCGGGACAGCTACCATGGG       c.540
 W  Q  R  T  P  V  A  V  T  A  W  A  L  L  R  D  S  Y  H  G         p.180

          .         .         .         .         .         .       g.11614
 GCGCTGTGCCTCCGCTTCCAGGCCCAGCACATCGCCGTGGCGGTGCTCTACCTGGCCCTG       c.600
 A  L  C  L  R  F  Q  A  Q  H  I  A  V  A  V  L  Y  L  A  L         p.200

          .         .         .         .         .        | 05.    g.15725
 CAGGTCTACGGAGTTGAGGTGCCCGCCGAGGTCGAGGCTGAGAAGCCGTGGTGGCAG | GTG    c.660
 Q  V  Y  G  V  E  V  P  A  E  V  E  A  E  K  P  W  W  Q   | V      p.220

          .         .         .         .         .         .       g.15785
 TTTAATGACGACCTTACCAAGCCAATCATTGATAATATTGTGTCTGATCTCATTCAGATT       c.720
 F  N  D  D  L  T  K  P  I  I  D  N  I  V  S  D  L  I  Q  I         p.240

          .         .                                               g.15812
 TATACCATGGACACAGAGATCCCCTAA                                        c.747
 Y  T  M  D  T  E  I  P  X                                          p.248

          .         .         .         .         .         .       g.15872
 ggtcctggcccaggcctgcccaaagagaagcccaggatggtcggctgcctggggacattg       c.*60

          .         .         .         .         .         .       g.15932
 tcaccacgtcgccatgacggctggtccccacaggaccagctgggaggactggttgtgctg       c.*120

          .         .         .         .         .         .       g.15992
 ctggagaagggctggagaaggcaatggcatgctgccgctttgccagtccctagaagtcgc       c.*180

          .         .         .         .         .         .       g.16052
 ggtgcaggtgatggtgggagccgcgcctccagcgggcaggccgggagtgtactgtgtgca       c.*240

          .         .         .         .         .         .       g.16112
 gctgacccaaggcagccacatctgcgtttgtcctttgagaggactttgactacaatacag       c.*300

          .         .         .         .         .         .       g.16172
 gcatgacatcaatgaaaggaaagtcatgaaatcgatgagactgaatccctacggatttct       c.*360

          .         .         .         .         .         .       g.16232
 taaaagccagatttgtagggagaatgaatgtgcaacgtggctgaaatctattttgtgtaa       c.*420

          .         .                                               g.16252
 taaaaggtgatacaagtcaa                                               c.*440

 (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 Family with sequence similarity 58, member A 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.