VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) (VMA21) - coding DNA reference sequence

(used for mutation description)

(last modified March 26, 2010)

This file was created to facilitate the description of sequence variants in the VMA21 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_016761.1, covering VMA21 transcript NM_001017980.3.

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

 (upstream sequence)
                                                                    g.5004
                                                         gcac       c.-121

 .         .         .         .         .         .                g.5064
 ttccggcgcgaaccgctacttccggtgcgaaccgcctcggccgttccctcgcggagctta       c.-61

 .         .         .         .         .         .                g.5124
 ctgagcgcggccgccgagcccagctccgccgccgagcgcctgtgccggcacggctacacc       c.-1

          .         .         .         .         .    | 02    .    g.11453
 ATGGAGCGCCCGGATAAGGCGGCGCTGAACGCACTGCAGCCTCCTGAGTTCAG | AAATGAA    c.60
 M  E  R  P  D  K  A  A  L  N  A  L  Q  P  P  E  F  R  |  N  E      p.20

          .         .         .         .         .         .       g.11513
 AGCTCATTAGCATCTACACTGAAGACGCTCCTGTTCTTCACAGCTTTAATGATCACTGTT       c.120
 S  S  L  A  S  T  L  K  T  L  L  F  F  T  A  L  M  I  T  V         p.40

          .         .         .         .    | 03    .         .    g.12748
 CCTATTGGGTTATATTTCACAACTAAATCTTACATATTTGAAG | GCGCCCTTGGGATGTCC    c.180
 P  I  G  L  Y  F  T  T  K  S  Y  I  F  E  G |   A  L  G  M  S      p.60

          .         .         .         .         .         .       g.12808
 AATAGGGACAGCTATTTTTACGCTGCTATTGTTGCAGTGGTCGCCGTCCATGTGGTGCTG       c.240
 N  R  D  S  Y  F  Y  A  A  I  V  A  V  V  A  V  H  V  V  L         p.80

          .         .         .         .         .         .       g.12868
 GCCCTCTTTGTGTATGTGGCCTGGAATGAAGGCTCACGACAGTGGCGTGAAGGCAAACAG       c.300
 A  L  F  V  Y  V  A  W  N  E  G  S  R  Q  W  R  E  G  K  Q         p.100

                                                                    g.12874
 GATTAA                                                             c.306
 D  X                                                               p.101

          .         .         .         .         .         .       g.12934
 agtgaacatcacctttttatagcattaaattcattttttaaaatgataaatgctggaggg       c.*60

          .         .         .         .         .         .       g.12994
 ggccatctgatttgaataaagttgaaagaacatgttaaagtcagtcttaaggagtcacgt       c.*120

          .         .         .         .         .         .       g.13054
 ttgagtatgtaaattttgatctttctaatatgttggtttgtatattcagttttaactgta       c.*180

          .         .         .         .         .         .       g.13114
 tgaatctgatttgcaaatgagaatttggaaaagttagttacaaagaaatatgttaattta       c.*240

          .         .         .         .         .         .       g.13174
 attagacaatactctggaaggaattttatcttctttcaacaaaacatgttttatagtatt       c.*300

          .         .         .         .         .         .       g.13234
 ctgacttacggttgcttttgagttttactcatttggatatattaagatgcacacagtgaa       c.*360

          .         .         .         .         .         .       g.13294
 gcaaattaaactccactttacgctggaatgctttctttagcatgaaaataccaggtcctt       c.*420

          .         .         .         .         .         .       g.13354
 ggatttgggattttaatttcctatggaaagttgcttaaattgtggacactggaattaatc       c.*480

          .         .         .         .         .         .       g.13414
 tgaatgtcactgaggaatttcacatgaagtgtaatccctagtcaataagaattatccatt       c.*540

          .         .         .         .         .         .       g.13474
 acattattttatgggaaaactaggctaaattacatccattcaggtaaaaggaccttagct       c.*600

          .         .         .         .         .         .       g.13534
 tactgaaggatctaaagagcaaagcaaagatctcactactcaaacactcagcctgcttcc       c.*660

          .         .         .         .         .         .       g.13594
 ttcaagtccccttgcaggccagctttgtgctttgcagaccaactttttaatgagatactt       c.*720

          .         .         .         .         .         .       g.13654
 tgcttcctcattcaacattgaagctaggcttcaattaaaaggttcgaggaagctccattt       c.*780

          .         .         .         .         .         .       g.13714
 aaaattgttttttttactattttttaaaattgtagtgtatatgataggaatttgcattta       c.*840

          .         .         .         .         .         .       g.13774
 aatatgttcatttttgcatatgttaggagtggaaacaatctggaaaacatttttttttca       c.*900

          .         .         .         .         .         .       g.13834
 tccaaaaagtattctccttgggcatatctgatggaaaaaaaccttgattttattttcgta       c.*960

          .         .         .         .         .         .       g.13894
 tctttagtctgtgttctttctagttatttggtactaattatgtgcaatctaaaaacactc       c.*1020

          .         .         .         .         .         .       g.13954
 ccacaagtatttgttttttaattataaaatcatagtatatgttctttgtagaaaactgga       c.*1080

          .         .         .         .         .         .       g.14014
 aaaatacatattcaaacaggaaaaaaaatcaaaattccccataatgttgccatctaaaaa       c.*1140

          .         .         .         .         .         .       g.14074
 taacctctattttagttgatatcccgtattcatttttgaaagccattccttaatgctagt       c.*1200

          .         .         .         .         .         .       g.14134
 ttgatacacactaaaagtttagcttacaagttcaaattctgccagcttttcctgacagct       c.*1260

          .         .         .         .         .         .       g.14194
 atttgcatttttttcagatgagtgattattggccattttctttttctttttctttatttt       c.*1320

          .         .         .         .         .         .       g.14254
 atttatttatttttttgagacagagttttgctctgttgcccaggctggagtgcagtggtg       c.*1380

          .         .         .         .         .         .       g.14314
 caatctcggctcactgcaacctctgcctcctgggttcaagtgattctccacctcagcctc       c.*1440

          .         .         .         .         .         .       g.14374
 ccaagtagctgggactacggatgcctgccaccacgcctggctaatttttttttgtatttt       c.*1500

          .         .         .         .         .         .       g.14434
 tttgtagagacggggtttcaccatgttgtccaggctaatcttgaacttgtgacctcaggt       c.*1560

          .         .         .         .         .         .       g.14494
 gatccacccgcctcggcctccgaaagtgctgggattacaggcgtgagctaccacgcccgg       c.*1620

          .         .         .         .         .         .       g.14554
 ccttattgaccattttctaaataagcacattctatctttattctcttaaaattcaaattt       c.*1680

          .         .         .         .         .         .       g.14614
 tctgttactgataatcctaatactaggattcttgcttaagtatgtgaaaccattaccgat       c.*1740

          .         .         .         .         .         .       g.14674
 ttgttgttcacatttattttttatgttgtgaaactggactaaaggaatagagggatgatt       c.*1800

          .         .         .         .         .         .       g.14734
 agtcataaaagtcaaatagcatttgtgtttaactgttgagaaaagtgaaagatcagtatg       c.*1860

          .         .         .         .         .         .       g.14794
 attattatggaactgtttttaattcttgcttaaagactacaattttagtataatgacatt       c.*1920

          .         .         .         .         .         .       g.14854
 tgagtctagggtagtatgtggtagatttctagatggtccctaattaagaagtattgttgt       c.*1980

          .         .         .         .         .         .       g.14914
 atttagaattgtccacctaatttctttttatataatgccaaggtatttcttgtgcttttg       c.*2040

          .         .         .         .         .         .       g.14974
 ggatcttatgctgtttgtaaaatgttactgtccaatgttggattattgttttggtttcag       c.*2100

          .         .         .         .         .         .       g.15034
 gcatttgctgaataggtgatgatacatgggtatttttctgcaagtatttaaaccaggggc       c.*2160

          .         .         .         .         .         .       g.15094
 atatgcaaaggcagttgtaatttcctcttggaaaaagcgccaaatgtttgaaggttaaaa       c.*2220

          .         .         .         .         .         .       g.15154
 tcaaatgctagggttgatatttaggcttataacaaaataggcttgttttcaaagcagttt       c.*2280

          .         .         .         .         .         .       g.15214
 tttcctagagttttaactgttaactcactagtttgctgctgtttttaactatgttaaata       c.*2340

          .         .         .         .         .         .       g.15274
 acatatggtatttggcaaatagatttatttttcaaaatgtctcactagtttccttttaca       c.*2400

          .         .         .         .         .         .       g.15334
 caatgtatatacttcaagatgtatagaaaggaaagctacagttgagcccttatacatgtt       c.*2460

          .         .         .         .         .         .       g.15394
 ttaaggtagaaatatgttccctattgtttgaaaactgattgtaagaataacctcagttag       c.*2520

          .         .         .         .         .         .       g.15454
 gagatataacttgaagtgtcagtccaaactactgatttaaccctatttacggtaacacat       c.*2580

          .         .         .         .         .         .       g.15514
 taccttcctcacctcctgtttggccctggagaatgtagtcctttttctcatttgtgttga       c.*2640

          .         .         .         .         .         .       g.15574
 gaaatgaaaagtctgctgtagaatgtatctgatgtcattagttcttcaaatggataccat       c.*2700

          .         .         .         .         .         .       g.15634
 tgtacatataacagtagaatttggtttggggttgttagtgaaaaaaaatttaaacctgcc       c.*2760

          .         .         .         .         .         .       g.15694
 attaaaaatccccatgtttcatggaaatctaacagaaatacattgtaataattagaacat       c.*2820

          .         .         .         .         .         .       g.15754
 tttgttttcttttttctttttttttttttcgagacggagttttgcccttcttgcccaggc       c.*2880

          .         .         .         .         .         .       g.15814
 tggagtgcaagggcgcaatctcggctcgctgcaacctccgcctcccgggttcaagcagtt       c.*2940

          .         .         .         .         .         .       g.15874
 ctcctgcctcagccccctgagtacctcagatgacaggtgcgtgccaccacacccggctaa       c.*3000

          .         .         .         .         .         .       g.15934
 tttttgtatttttagtagagacggggtttcaccatgttagccaggctagtctcgaactcc       c.*3060

          .         .         .         .         .         .       g.15994
 tgacctcaggtgatccacccgcctccgcctcccaaagtgctgggattacaggtatcagcc       c.*3120

          .         .         .         .         .         .       g.16054
 accgtgcctggcctaataattggaacattttcatcatgaaaatgtcatcagctttgccaa       c.*3180

          .         .         .         .         .         .       g.16114
 aagaaacaaccaattgacttgtttggcgtttgttttccattttcatgtcaattttatgta       c.*3240

          .         .         .         .         .         .       g.16174
 tacagttagaatacccaaggagaccactaaaatcagttaaacaagtagggtatatacaaa       c.*3300

          .         .         .         .         .         .       g.16234
 gaaagatgaaacccgaaagtacataaaaaggatttaaatccgattttagatgtacctagt       c.*3360

          .         .         .         .         .         .       g.16294
 gtgtatttcttatctctagacaagttcatgtttattgtttaatttatgcccaagtgaagt       c.*3420

          .         .         .         .         .         .       g.16354
 tgtaaacttatggttcaactctgacacagaatttgtcacttgtctgaggtcagtggcagg       c.*3480

          .         .         .         .         .         .       g.16414
 tttctctgctgtcaagcactctgtgtcacccaccagattagtataactattaattcagac       c.*3540

          .         .         .         .         .         .       g.16474
 tgtactcctatgtttaagataatttttacaagagctggctgaagcagcacattagtaacc       c.*3600

          .         .         .         .         .         .       g.16534
 tgacaagatttctttttcccttttcagggggaaagggtcaccttaaaaataaattatttt       c.*3660

          .         .         .         .         .         .       g.16594
 cagggactttgggaatctaatgataaatattacacataatctatgaatagcttaatcctt       c.*3720

          .         .         .         .         .         .       g.16654
 tatatattccttaaaataggaattcctcgacatcactcctggccacactttccttgcctg       c.*3780

          .         .         .         .         .         .       g.16714
 tgttgttgctatgtgtatttgaaagtaatatctgcattccttttaagatgttctgtaagt       c.*3840

          .         .         .         .         .         .       g.16774
 catatttgtcagttatacagagtagtcttccttttccccacgttcagtgtaatctcactg       c.*3900

          .         .         .         .         .         .       g.16834
 aacagtaataatagcaatagctaacaacatctgcacagcaccttacagtttgcaaagaac       c.*3960

          .         .         .         .         .         .       g.16894
 gttcacacattctcatttgagttttgcatagtgaacctgttacgagatgtctcttgacgt       c.*4020

          .         .         .         .         .         .       g.16954
 cgatgctaaaagtgttagaatctttacatcactagagtcattgaatatgctgtagtattg       c.*4080

          .         .         .         .         .         .       g.17014
 aatagtgccctgactagggggaggatttggatgtgctgcatttcaagccgtgtataatca       c.*4140

          .         .         .         .         .         .       g.17074
 tcaaaatggggggcttgagttctttagctacttgaatccgatttacttctgttaagtgat       c.*4200

          .         .         .         .         .         .       g.17134
 gcttttctaaccgttttctggatggattttgtattcactatattgtagcttgtaatttgt       c.*4260

          .         .         .         .                           g.17180
 ataaatgtaccatctgatgtcattaaaaaaagtgtttgtagtgcta                     c.*4306

 (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 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.