carbonic anhydrase VA, mitochondrial (CA5A) - coding DNA reference sequence

(used for variant description)

(last modified May 1, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_001739.1 in the CA5A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033227.1, covering CA5A transcript NM_001739.1.

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

 (upstream sequence)
           .         .         .         .         .                g.5056
     cagacagcagggaacatcaccctcttcagactggagtcagtgggaacagacccaag       c.-1

          .         .         .         .         .         .       g.5116
 ATGTTGGGGAGGAACACTTGGAAGACCTCAGCTTTCTCCTTCTTGGTTGAGCAGATGTGG       c.60
 M  L  G  R  N  T  W  K  T  S  A  F  S  F  L  V  E  Q  M  W         p.20

          .         .         .         .         .         .       g.5176
 GCCCCTCTCTGGAGTCGTTCGATGAGGCCAGGGCGATGGTGTTCTCAGCGTTCCTGTGCA       c.120
 A  P  L  W  S  R  S  M  R  P  G  R  W  C  S  Q  R  S  C  A         p.40

          .         .   | 02     .         .         .         .    g.14599
 TGGCAAACCAGCAATAACACTT | TGCACCCACTCTGGACGGTCCCGGTCTCCGTGCCAGGG    c.180
 W  Q  T  S  N  N  T  L |   H  P  L  W  T  V  P  V  S  V  P  G      p.60

          .         .         .         .         .         .       g.14659
 GGCACCCGGCAGTCTCCTATTAACATCCAGTGGAGGGACAGCGTCTATGACCCCCAGCTG       c.240
 G  T  R  Q  S  P  I  N  I  Q  W  R  D  S  V  Y  D  P  Q  L         p.80

          .         .         .         .         .         .       g.14719
 AAGCCACTCAGGGTCTCCTATGAAGCGGCATCCTGCCTGTACATCTGGAACACTGGCTAC       c.300
 K  P  L  R  V  S  Y  E  A  A  S  C  L  Y  I  W  N  T  G  Y         p.100

          .         .         .         . | 03       .         .    g.36622
 CTCTTCCAGGTGGAATTTGACGATGCCACCGAGGCATCAG | GAATTAGTGGTGGGCCCTTG    c.360
 L  F  Q  V  E  F  D  D  A  T  E  A  S  G |   I  S  G  G  P  L      p.120

          .         .         .         .         .         .       g.36682
 GAAAACCACTACAGACTGAAGCAATTTCACTTCCACTGGGGAGCAGTGAACGAGGGGGGC       c.420
 E  N  H  Y  R  L  K  Q  F  H  F  H  W  G  A  V  N  E  G  G         p.140

          .         .         .          | 04        .         .    g.39007
 TCAGAGCACACAGTGGACGGCCACGCGTACCCCGCAGAG | CTGCATTTAGTTCACTGGAAT    c.480
 S  E  H  T  V  D  G  H  A  Y  P  A  E   | L  H  L  V  H  W  N      p.160

          .         .         .         .         .         .       g.39067
 TCTGTGAAATACCAAAATTACAAGGAAGCTGTCGTGGGAGAGAATGGTTTGGCTGTGATA       c.540
 S  V  K  Y  Q  N  Y  K  E  A  V  V  G  E  N  G  L  A  V  I         p.180

          .      | 05  .         .         .         .         .    g.39577
 GGCGTGTTTTTAAAG | CTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTG    c.600
 G  V  F  L  K   | L  G  A  H  H  Q  T  L  Q  R  L  V  D  I  L      p.200

          .         | 06         .         .         .         .    g.49594
 CCGGAAATAAAACATAAG | GACGCGCGGGCGGCCATGCGCCCCTTCGACCCCTCCACTCTG    c.660
 P  E  I  K  H  K   | D  A  R  A  A  M  R  P  F  D  P  S  T  L      p.220

          .         .         .         .         .         .       g.49654
 CTGCCCACCTGCTGGGATTACTGGACCTACGCGGGCTCGCTCACCACCCCGCCGCTGACC       c.720
 L  P  T  C  W  D  Y  W  T  Y  A  G  S  L  T  T  P  P  L  T         p.240

          .         .         .         .         .     | 07   .    g.53240
 GAGTCGGTCACCTGGATCATCCAGAAGGAGCCCGTTGAAGTGGCCCCAAGCCAG | CTCTCT    c.780
 E  S  V  T  W  I  I  Q  K  E  P  V  E  V  A  P  S  Q   | L  S      p.260

          .         .         .         .         .         .       g.53300
 GCATTTCGTACTCTCCTGTTTTCTGCACTTGGTGAAGAGGAGAAGATGATGGTGAACAAC       c.840
 A  F  R  T  L  L  F  S  A  L  G  E  E  E  K  M  M  V  N  N         p.280

          .         .         .         .         .         .       g.53360
 TATCGCCCACTTCAACCCTTGATGAACCGGAAGGTCTGGGCGTCCTTCCAGGCCACTAAT       c.900
 Y  R  P  L  Q  P  L  M  N  R  K  V  W  A  S  F  Q  A  T  N         p.300

          .                                                         g.53378
 GAGGGCACAAGGTCCTAG                                                 c.918
 E  G  T  R  S  X                                                   p.305

          .         .         .         .         .         .       g.53438
 agacattaggtccacatgaatagcagaactgactttgaaggaaggaagcgttgtttccca       c.*60

          .         .         .         .         .                 g.53488
 agtttcacaatgtgattgtacatgacttctgaaattaaaaagagagcatg                 c.*110

 (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 Carbonic anhydrase VA, mitochondrial 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.