TIMP metallopeptidase inhibitor 3 (TIMP3) - coding DNA reference sequence

(used for variant description)

(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000362.4 in the TIMP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009117.2, covering TIMP3 transcript NM_000362.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5046
               ctgtggcttgccccagagctgatccttgtctttgtccacttctcag       c.-1141

 .         .         .         .         .         .                g.5106
 cgaggatggcacttcagggagcccttcccttactatcgcagagagagcaggccctcccca       c.-1081

 .         .         .         .         .         .                g.5166
 gtcatgtccaacccagaactctgttttgttttcttcatagccctagcatcacagaaaatc       c.-1021

 .         .         .         .         .         .                g.5226
 accctgtgcattcatggatgtccacgggggcaagggctttgtgttgcttaacccagcatc       c.-961

 .         .         .         .         .         .                g.5286
 ctgaaccgtgtttgttgaatgaatacagaaccccgtttgctctgggagagcacagaaaac       c.-901

 .         .         .         .         .         .                g.5346
 agtcttctatcatatatcatagccagctgcaaacagcagatggcttcccatatcccagag       c.-841

 .         .         .         .         .         .                g.5406
 agtaagaaccagagagagagagaaagagagagagtttgggtctttctcctctgtgcctgc       c.-781

 .         .         .         .         .         .                g.5466
 tctctccagagaaactggaggggtagcagttagcattcccccgctggttccaccaagcac       c.-721

 .         .         .         .         .         .                g.5526
 agtcaaggtctctaggacatggccacccctcacctgtggaagcggtcctgctggggtggg       c.-661

 .         .         .         .         .         .                g.5586
 tgggtgttagttggttctggtttgggtcagagacacccagtggcccaggtgggcgtgggg       c.-601

 .         .         .         .         .         .                g.5646
 ccagggcgcagacgagaaggggcacgagggctccgctccgaggacccagcggcaagcacc       c.-541

 .         .         .         .         .         .                g.5706
 ggtcccgggcgcgccccagcccacccactcgcgtgcccacggcggcattattccctataa       c.-481

 .         .         .         .         .         .                g.5766
 ggatctgaacgatccgggggcggccccgccccgttaccccttgcccccggccccgccccc       c.-421

 .         .         .         .         .         .                g.5826
 tttttggagggccgatgaggtaatgcggctctgccattggtctgagggggcgggccccaa       c.-361

 .         .         .         .         .         .                g.5886
 cagcccgaggcggggtccccgggggcccagcgctatatcactcggccgcccaggcagcgg       c.-301

 .         .         .         .         .         .                g.5946
 cgcagagcgggcagcaggcaggcggcgggcgctcagacggcttctcctcctcctcttgct       c.-241

 .         .         .         .         .         .                g.6006
 cctccagctcctgctccttcgccgggaggccgcccgccgagtcctgcgccagcgccgagg       c.-181

 .         .         .         .         .         .                g.6066
 cagcctcgctgcgccccatcccgtcccgccgggcactcggagggcagcgcgccggaggcc       c.-121

 .         .         .         .         .         .                g.6126
 aaggttgccccgcacggcccggcgggcgagcgagctcgggctgcagcagccccgccggcg       c.-61

 .         .         .         .         .         .                g.6186
 gcgcgcacggcaactttggagaggcgagcagcagccccggcagcggcggcagcagcggca       c.-1

          .         .         .         .         .         .       g.6246
 ATGACCCCTTGGCTCGGGCTCATCGTGCTCCTGGGCAGCTGGAGCCTGGGGGACTGGGGC       c.60
 M  T  P  W  L  G  L  I  V  L  L  G  S  W  S  L  G  D  W  G         p.20

          .         .         .         .         .         .       g.6306
 GCCGAGGCGTGCACATGCTCGCCCAGCCACCCCCAGGACGCCTTCTGCAACTCCGACATC       c.120
 A  E  A  C  T  C  S  P  S  H  P  Q  D  A  F  C  N  S  D  I         p.40

   | 02      .         .         .         .         .         .    g.53696
 G | TGATCCGGGCCAAGGTGGTGGGGAAGAAGCTGGTAAAGGAGGGGCCCTTCGGCACGCTG    c.180
 V |   I  R  A  K  V  V  G  K  K  L  V  K  E  G  P  F  G  T  L      p.60

          .         .     | 03   .         .         .         .    g.61470
 GTCTACACCATCAAGCAGATGAAG | ATGTACCGAGGCTTCACCAAGATGCCCCATGTGCAG    c.240
 V  Y  T  I  K  Q  M  K   | M  Y  R  G  F  T  K  M  P  H  V  Q      p.80

          .         .         .         .         .         .       g.61530
 TACATCCATACGGAAGCTTCCGAGAGTCTCTGTGGCCTTAAGCTGGAGGTCAACAAGTAC       c.300
 Y  I  H  T  E  A  S  E  S  L  C  G  L  K  L  E  V  N  K  Y         p.100

          .       | 04 .         .         .         .         .    g.62246
 CAGTACCTGCTGACAG | GTCGCGTCTATGATGGCAAGATGTACACGGGGCTGTGCAACTTC    c.360
 Q  Y  L  L  T  G |   R  V  Y  D  G  K  M  Y  T  G  L  C  N  F      p.120

          .         .         .         .         .         .       g.62306
 GTGGAGAGGTGGGACCAGCTCACCCTCTCCCAGCGCAAGGGGCTGAACTATCGGTATCAC       c.420
 V  E  R  W  D  Q  L  T  L  S  Q  R  K  G  L  N  Y  R  Y  H         p.140

          .         | 05         .         .         .         .    g.63407
 CTGGGTTGTAACTGCAAG | ATCAAGTCCTGCTACTACCTGCCTTGCTTTGTGACTTCCAAG    c.480
 L  G  C  N  C  K   | I  K  S  C  Y  Y  L  P  C  F  V  T  S  K      p.160

          .         .         .         .         .         .       g.63467
 AACGAGTGTCTCTGGACCGACATGCTCTCCAATTTCGGTTACCCTGGCTACCAGTCCAAA       c.540
 N  E  C  L  W  T  D  M  L  S  N  F  G  Y  P  G  Y  Q  S  K         p.180

          .         .         .         .         .         .       g.63527
 CACTACGCCTGCATCCGGCAGAAGGGCGGCTACTGCAGCTGGTACCGAGGATGGGCCCCC       c.600
 H  Y  A  C  I  R  Q  K  G  G  Y  C  S  W  Y  R  G  W  A  P         p.200

          .         .         .                                     g.63563
 CCGGATAAAAGCATCATCAATGCCACAGACCCCTGA                               c.636
 P  D  K  S  I  I  N  A  T  D  P  X                                 p.211

          .         .         .         .         .         .       g.63623
 gcgccagaccctgccccacctcacttccctcccttcccgctgagcttcccttggacacta       c.*60

          .         .         .         .         .         .       g.63683
 actcttcccagatgatgacaatgaaattagtgcctgttttcttgcaaatttagcacttgg       c.*120

          .         .         .         .         .         .       g.63743
 aacatttaaagaaaggtctatgctgtcatatggggtttattgggaactatcctcctggcc       c.*180

          .         .         .         .         .         .       g.63803
 ccaccctgccccttctttttggttttgacatcattcatttccacctgggaatttctggtg       c.*240

          .         .         .         .         .         .       g.63863
 ccatgccagaaagaatgaggaacctgtattcctcttcttcgtgataatataatctctatt       c.*300

          .         .         .         .         .         .       g.63923
 tttttaggaaaacaaaaatgaaaaactactccatttgaggattgtaattcccacccctct       c.*360

          .         .         .         .         .         .       g.63983
 tgcttcttccccacctcaccatctcccagaccctcttccctttgcccttctcctccaata       c.*420

          .         .         .         .         .         .       g.64043
 cataaaggacacagacaaggaacttgctgaaaggccaaccatttcaggatcagtcaaagg       c.*480

          .         .         .         .         .         .       g.64103
 cagcaagcagatagactcaaggtgtgtgaaagatgttatacaccaggagctgccactgca       c.*540

          .         .         .         .         .         .       g.64163
 tgtcccaaccagactgtgtctgtctgtgtctgcatgtaagagtgagggagggaaggaagg       c.*600

          .         .         .         .         .         .       g.64223
 aactacaagagagtcggagatgatgcagcacacacacaattccccagcccagtgatgctt       c.*660

          .         .         .         .         .         .       g.64283
 gtgttgaccagatgttcctgagtctggagcaagcacccaggccagaataacagagctttc       c.*720

          .         .         .         .         .         .       g.64343
 ttagttggtgaagacttaaacatctgcctgaggtcaggaggcaatttgcctgccttgtac       c.*780

          .         .         .         .         .         .       g.64403
 aaaagctcaggtgaaagactgagatgaatgtctttcctctccctgcctcccaccagactt       c.*840

          .         .         .         .         .         .       g.64463
 cctcctggaaaacgctttggtagatttggccaggagctttcttttatgtaaattggataa       c.*900

          .         .         .         .         .         .       g.64523
 atacacacaccatacactatccacagatatagccaagtagatttgggtagaggatactat       c.*960

          .         .         .         .         .         .       g.64583
 ttccagaatagtgtttagctcacctagggggatatgtttgtatacacatttgcatatacc       c.*1020

          .         .         .         .         .         .       g.64643
 cacatggggacataagctaatttttttacaggacacagaattctgttcaatgctgttaaa       c.*1080

          .         .         .         .         .         .       g.64703
 tatgccaatagtttaatctcttctattttgttgtcgttgcttgtttgaagaaaatcatga       c.*1140

          .         .         .         .         .         .       g.64763
 cattccaagttgacatttttttttcattttaattaaaatttgaaattctgaacaccgtca       c.*1200

          .         .         .         .         .         .       g.64823
 gcaccctctcttccctatcatgggtcatctgacccctgtccgtctccttgtccctgcttc       c.*1260

          .         .         .         .         .         .       g.64883
 atgtttgggggcctttctttaactgccttcctggcttagctcagatggcagatgagagtg       c.*1320

          .         .         .         .         .         .       g.64943
 tagtcaagggcctgggcacaggagggagagctgcagagtgtcctgcctgccttggctgga       c.*1380

          .         .         .         .         .         .       g.65003
 gggacacctctcctgggtgtggagacagcttggttccctttccctagctccctggtgggt       c.*1440

          .         .         .         .         .         .       g.65063
 gaatgccacctcctgagatcctcacctcttggaattaaaattgttggtcactggggaaag       c.*1500

          .         .         .         .         .         .       g.65123
 cctgagtttgcaaccagttgtagggtttctgttgtgtttttttttttttttttgaaataa       c.*1560

          .         .         .         .         .         .       g.65183
 aactataatataaattctcctattaaataaaattattttaagttttagtgtcaaaagtga       c.*1620

          .         .         .         .         .         .       g.65243
 gatgctgagagtaggtgataatgtatattttacagagtgggggttggcaggatggtgaca       c.*1680

          .         .         .         .         .         .       g.65303
 ttgaacatgattgctctctgtctcttttttcagcttatgggtatttatcttctattagta       c.*1740

          .         .         .         .         .         .       g.65363
 tttgtatcttcagttcattccactttaggaaacagagctgccaattgaaacagaagaaga       c.*1800

          .         .         .         .         .         .       g.65423
 aaaaaaaaaaaagcagcagacaacacactgtagagtcttgcacacacacaagtgcccagg       c.*1860

          .         .         .         .         .         .       g.65483
 caaggtgcttggcagaaccgcagagtgggaagagagtaccggcatcgggtttccttggga       c.*1920

          .         .         .         .         .         .       g.65543
 tcaatttcattaccgtgtacctttcccattgtggtcatgccatttggcagggggagaatg       c.*1980

          .         .         .         .         .         .       g.65603
 ggaggcttggccttctttgtgaggcagtgtgagcagaagctgatgccagcatgtcactgg       c.*2040

          .         .         .         .         .         .       g.65663
 ttttgaagggatgagcccagacttgatgttttgggattgtccttattttaacctcaaggt       c.*2100

          .         .         .         .         .         .       g.65723
 ctcgcatggtggggcccctgaccaacctacacaagttccctcccacaagtggacatcagt       c.*2160

          .         .         .         .         .         .       g.65783
 gtcttctctgtgaggcatctggccattcgcactccctggtgtggtcagcctctctcacac       c.*2220

          .         .         .         .         .         .       g.65843
 aaggaggaacttgggtgaaggctgagtgtgaggcacctgaagtttccctgcggagtcgat       c.*2280

          .         .         .         .         .         .       g.65903
 aaattagcagaaccacatccccatctgttaggccttggtgaggaggccctgggcaaagaa       c.*2340

          .         .         .         .         .         .       g.65963
 gggtctttcgcaaagcgatgtcagagggcggttttgagctttctataagctatagctttg       c.*2400

          .         .         .         .         .         .       g.66023
 tttatttcacccgttcacttactgtataatttaaaatcatttatgtagctgagacacttc       c.*2460

          .         .         .         .         .         .       g.66083
 tgtatttcaatcatatcatgaacattttattttgctaaatcttgtgtcatgtgtaggctg       c.*2520

          .         .         .         .         .         .       g.66143
 taatatgtgtacattgtgtttaagagaaaaatgaaacccacatgccgccattttcctgaa       c.*2580

          .         .         .         .         .         .       g.66203
 tcaaattctgcagtggaatggagaggaaaatacttctaggcaagcagctagactggtgaa       c.*2640

          .         .         .         .         .         .       g.66263
 ttgggggaaatagaaggaactagtaactgagactcctccagcctcctccctattggaatc       c.*2700

          .         .         .         .         .         .       g.66323
 ccaatggctcctggagtaggaaaaaagtttaaactacattcatgttcttgttctgtgtca       c.*2760

          .         .         .         .         .         .       g.66383
 ctcggccctgggtagtctaccatttacttcaccccaagtcctgctgcccatccagttggg       c.*2820

          .         .         .         .         .         .       g.66443
 aagccatgattttcctaagaatccagggccatgggagatacaattccaagttctcgcttc       c.*2880

          .         .         .         .         .         .       g.66503
 ctcctttgggcatctcttctgcctcccaatcaaggaagctccatgctcaggctctcagct       c.*2940

          .         .         .         .         .         .       g.66563
 ctcgggccagtgctctgctctgtccagggtaggtaatactgggagactcctgtcttttac       c.*3000

          .         .         .         .         .         .       g.66623
 cctcccctcgttccagacctgcctcatggtggcaacatggttcttgaacaattaaagaaa       c.*3060

          .         .         .         .         .         .       g.66683
 caaatgactttttggaatagccctgtctagggcaaactgtggcccccaggagacactacc       c.*3120

          .         .         .         .         .         .       g.66743
 cttccatgccccagacctctgtcttgcatgtgacaattgacaatctggactaccccaaga       c.*3180

          .         .         .         .         .         .       g.66803
 tggcacccaagtgtttggcttctggctacctaaggttaacatgtcactagagtattttta       c.*3240

          .         .         .         .         .         .       g.66863
 tgagagacaaacattataaaaatctgatggcaaaagcaaaacaaaatggaaagtagggga       c.*3300

          .         .         .         .         .         .       g.66923
 ggtggatgtgacaacaacttccaaattggctctttggaggcgagaggaaggggagaactt       c.*3360

          .         .         .         .         .         .       g.66983
 ggagaatagtttttgctttgggggtagaggcttcttagattctcccagcatccgcctttc       c.*3420

          .         .         .         .         .         .       g.67043
 cctttagccagtctgctgtcctgaaacccagaagtgatggagagaaaccaacaagagatc       c.*3480

          .         .         .         .         .         .       g.67103
 tcgaaccctgtctagaaggaatgtatttgttgctaaatttcgtagcactgtttacagttt       c.*3540

          .         .         .         .         .         .       g.67163
 tcctccatgttatttatgaattttatattccgtgaatgtatattgtcttgtaatgttgca       c.*3600

          .         .         .         .         .         .       g.67223
 taatgttcactttttatagtgtgtcctttattctaaacagtaaagtggttttatttctat       c.*3660

                                                                    g.67227
 caca                                                               c.*3664

 (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 TIMP metallopeptidase inhibitor 3 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.