potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) - coding DNA reference sequence

(used for variant description)

(last modified January 9, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000525.3 in the KCNJ11 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012446.1, covering KCNJ11 transcript NM_000525.3.

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

 (upstream sequence)
                                         .         .                g.5028
                                 ggcagggttgggggctccctaggcgcca       c.-541

 .         .         .         .         .         .                g.5088
 ggcaggtgggctcaagggtgaggctgttttttttgttttgttttttgtttttgagacgga       c.-481

 .         .         .         .         .         .                g.5148
 gtctcgctctgtcgcccaggctggagtgcagtggcgtgatcttggctcactgcaacctcc       c.-421

 .         .         .         .         .         .                g.5208
 gcctctcgggttcaagcgattctcctgcctcagcttcctgagtagctgggattacaggtg       c.-361

 .         .         .         .         .         .                g.5268
 cgcaccaccatgcccggctaacttttgtatttttagtagagatggggtttcaccatgttg       c.-301

 .         .         .         .         .         .                g.5328
 gtcaggctggtctcgaactcctgacctagtgatctgccctcctcagcctcccaacgtact       c.-241

 .         .         .         .         .         .                g.5388
 gggattacaggcgtgagccaccgcgcccggcctgaggctggtattaagaagtgaagtggg       c.-181

 .         .         .         .         .         .                g.5448
 acccaggtggaggtaaggaagagtctggtggggagttatctcagaagtgaggccagcaca       c.-121

 .         .         .         .         .         .                g.5508
 ggctgagtgcagccccagggtgagaaggtgcccaccgagaggactctgcagtgaggccct       c.-61

 .         .         .         .         .         .                g.5568
 aggccacgtccgaggggtgcctccgatgggggaagcccctccctgggggtcaccggagcc       c.-1

          .         .         .         .         .         .       g.5628
 ATGCTGTCCCGCAAGGGCATCATCCCCGAGGAATACGTGCTGACACGCCTGGCAGAGGAC       c.60
 M  L  S  R  K  G  I  I  P  E  E  Y  V  L  T  R  L  A  E  D         p.20

          .         .         .         .         .         .       g.5688
 CCTGCCAAGCCCAGGTACCGTGCCCGCCAGCGGAGGGCCCGCTTTGTGTCCAAGAAAGGC       c.120
 P  A  K  P  R  Y  R  A  R  Q  R  R  A  R  F  V  S  K  K  G         p.40

          .         .         .         .         .         .       g.5748
 AACTGCAACGTGGCCCACAAGAACATCCGGGAGCAGGGCCGCTTCCTGCAGGACGTGTTC       c.180
 N  C  N  V  A  H  K  N  I  R  E  Q  G  R  F  L  Q  D  V  F         p.60

          .         .         .         .         .         .       g.5808
 ACCACGCTGGTGGACCTCAAGTGGCCACACACATTGCTCATCTTCACCATGTCCTTCCTG       c.240
 T  T  L  V  D  L  K  W  P  H  T  L  L  I  F  T  M  S  F  L         p.80

          .         .         .         .         .         .       g.5868
 TGCAGCTGGCTGCTCTTCGCCATGGCCTGGTGGCTCATCGCCTTCGCCCACGGTGACCTG       c.300
 C  S  W  L  L  F  A  M  A  W  W  L  I  A  F  A  H  G  D  L         p.100

          .         .         .         .         .         .       g.5928
 GCCCCCAGCGAGGGCACTGCTGAGCCCTGTGTCACCAGCATCCACTCCTTCTCGTCTGCC       c.360
 A  P  S  E  G  T  A  E  P  C  V  T  S  I  H  S  F  S  S  A         p.120

          .         .         .         .         .         .       g.5988
 TTCCTTTTCTCCATTGAGGTCCAAGTGACTATTGGCTTTGGGGGGCGCATGGTGACTGAG       c.420
 F  L  F  S  I  E  V  Q  V  T  I  G  F  G  G  R  M  V  T  E         p.140

          .         .         .         .         .         .       g.6048
 GAGTGCCCACTGGCCATCCTGATCCTCATCGTGCAGAACATCGTGGGGCTCATGATCAAC       c.480
 E  C  P  L  A  I  L  I  L  I  V  Q  N  I  V  G  L  M  I  N         p.160

          .         .         .         .         .         .       g.6108
 GCCATCATGCTTGGCTGCATCTTCATGAAGACTGCCCAAGCCCACCGCAGGGCTGAGACC       c.540
 A  I  M  L  G  C  I  F  M  K  T  A  Q  A  H  R  R  A  E  T         p.180

          .         .         .         .         .         .       g.6168
 CTCATCTTCAGCAAGCATGCGGTGATCGCCCTGCGCCACGGCCGCCTCTGCTTCATGCTA       c.600
 L  I  F  S  K  H  A  V  I  A  L  R  H  G  R  L  C  F  M  L         p.200

          .         .         .         .         .         .       g.6228
 CGTGTGGGTGACCTCCGCAAGAGCATGATCATCAGCGCCACCATCCACATGCAGGTGGTA       c.660
 R  V  G  D  L  R  K  S  M  I  I  S  A  T  I  H  M  Q  V  V         p.220

          .         .         .         .         .         .       g.6288
 CGCAAGACCACCAGCCCCGAGGGCGAGGTGGTGCCCCTCCACCAGGTGGACATCCCCATG       c.720
 R  K  T  T  S  P  E  G  E  V  V  P  L  H  Q  V  D  I  P  M         p.240

          .         .         .         .         .         .       g.6348
 GAGAACGGCGTGGGTGGCAACAGCATCTTCCTGGTGGCCCCGCTGATCATCTACCATGTC       c.780
 E  N  G  V  G  G  N  S  I  F  L  V  A  P  L  I  I  Y  H  V         p.260

          .         .         .         .         .         .       g.6408
 ATTGATGCCAACAGCCCACTCTACGACCTGGCACCCAGCGACCTGCACCACCACCAGGAC       c.840
 I  D  A  N  S  P  L  Y  D  L  A  P  S  D  L  H  H  H  Q  D         p.280

          .         .         .         .         .         .       g.6468
 CTCGAGATCATCGTCATCCTGGAAGGCGTGGTGGAAACCACGGGCATCACCACCCAGGCC       c.900
 L  E  I  I  V  I  L  E  G  V  V  E  T  T  G  I  T  T  Q  A         p.300

          .         .         .         .         .         .       g.6528
 CGCACCTCCTACCTGGCCGATGAGATCCTGTGGGGCCAGCGCTTTGTGCCCATTGTAGCT       c.960
 R  T  S  Y  L  A  D  E  I  L  W  G  Q  R  F  V  P  I  V  A         p.320

          .         .         .         .         .         .       g.6588
 GAGGAGGACGGACGTTACTCTGTGGACTACTCCAAGTTTGGCAACACCGTCAAAGTGCCC       c.1020
 E  E  D  G  R  Y  S  V  D  Y  S  K  F  G  N  T  V  K  V  P         p.340

          .         .         .         .         .         .       g.6648
 ACACCACTCTGCACGGCCCGCCAGCTTGATGAGGACCACAGCCTACTGGAAGCTCTGACC       c.1080
 T  P  L  C  T  A  R  Q  L  D  E  D  H  S  L  L  E  A  L  T         p.360

          .         .         .         .         .         .       g.6708
 CTCGCCTCAGCCCGCGGGCCCCTGCGCAAGCGCAGCGTGCCCATGGCCAAGGCCAAGCCC       c.1140
 L  A  S  A  R  G  P  L  R  K  R  S  V  P  M  A  K  A  K  P         p.380

          .         .         .                                     g.6741
 AAGTTCAGCATCTCTCCAGATTCCCTGTCCTGA                                  c.1173
 K  F  S  I  S  P  D  S  L  S  X                                    p.390

          .         .         .         .         .         .       g.6801
 gccatggtctctcgggccccccacacgcgtgtgtacacacggaccatgtggtatgtagcc       c.*60

          .         .         .         .         .         .       g.6861
 cggccagggcctggtgtgaggctgggccagcctcagctcagcctccccctgctgctcatc       c.*120

          .         .         .         .         .         .       g.6921
 cagggtgttacaaggcacttgtcactatgctatttctggcctcagcaggaacctgtactg       c.*180

          .         .         .         .         .         .       g.6981
 ggttatttttgtccctgctcctcccaacccaattcaggactggctcacccctctcccccg       c.*240

          .         .         .         .         .         .       g.7041
 cccaaggctgcagaggctgtgggaggtactgggccctagagctgtgcgtccagccagtcc       c.*300

          .         .         .         .         .         .       g.7101
 tgggtccccacgattgaccagccacactctgggccggtggctggggaagaacaatccccg       c.*360

          .         .         .         .         .         .       g.7161
 agggctgctgctttgcgtctgtggctccaagaagtgcctgtggtcaggccccagctctac       c.*420

          .         .         .         .         .         .       g.7221
 ttggtccctgaaaaagcacctggctaagggctgggcctggccagcagggagggcagttga       c.*480

          .         .         .         .         .         .       g.7281
 tgagagagggtgttcccgctggagggttggtgctgtggagcctacaccggcagggacagc       c.*540

          .         .         .         .         .         .       g.7341
 ctggggctgacagggctcccctccgagggccagtttcaggtctggaaggggaggaagcag       c.*600

          .         .         .         .         .         .       g.7401
 gggaaggtgacctgaggaggctcggctttgtagagccccgctcaggcacagggaggagga       c.*660

          .         .         .         .         .         .       g.7461
 gatgccagggctcctgccttttgccacatcggcctcgtgcagtgagggctctgtgggctg       c.*720

          .         .         .         .         .         .       g.7521
 gggctgctgcccctgcctacctcctgcctgtccccagaggctgaggagagggggtactgt       c.*780

          .         .         .         .         .         .       g.7581
 gcccaccacacatgattaggcctcagacccaactctggtcctggctccacaacagtggct       c.*840

          .         .         .         .         .         .       g.7641
 gccactcactttgtccagaaggtggcttgggggtggatatctttgggttgctggaaaagg       c.*900

          .         .         .         .         .         .       g.7701
 tgtgggaaggttcaggatggtgggagggactgaggtccctgaggtgaagaggcccttggt       c.*960

          .         .         .         .         .         .       g.7761
 cctgacgggtttgacccgtgcctggacccttggagcagtgttgtgtgaacttgcctagaa       c.*1020

          .         .         .         .         .         .       g.7821
 ctctgccttctccgttgtcaataaagcctccccctcatgacctaaactctgggcttttct       c.*1080

          .         .         .         .         .         .       g.7881
 tgctggggaggcagcaagcatgctggtgggaagggaggcagggactggcagctgccaccc       c.*1140

          .         .         .         .         .         .       g.7941
 ccttcaagaggcgccatagaccctagcggggagggcaggggagggacggaaggctggcac       c.*1200

          .         .         .         .         .         .       g.8001
 ctcttccaccagttcagggggactttcccctctcctgtctcaggtggcccagccctgtca       c.*1260

          .         .         .         .         .         .       g.8061
 gcctgtctggccaactcagcctttgggcactcaccaggctttgcagccctgggctctgtc       c.*1320

          .         .         .         .         .         .       g.8121
 tctactcccagggacctgctggaaggctggagtgcccagggagaggtatagaggtgtcat       c.*1380

          .         .         .         .         .         .       g.8181
 aggcattagtgtagtaattggagcactaactctcgagccaactgcctgggttcgaatcct       c.*1440

          .         .         .         .         .         .       g.8241
 ggctctagctgtatgacttttgtcaagtaacttagcctctctgtgtctcagttgcctctt       c.*1500

          .         .         .         .         .         .       g.8301
 ctataacatggatgctaatagtacctacctcatagaattgttttggaagtaaatgaaaaa       c.*1560

          .         .         .         .         .         .       g.8361
 tatgtaaaatgctgaagtgcctggtctacagtaagtgctcaataaatgttaactattgtg       c.*1620

          .         .         .         .         .                 g.8412
 attgctgctgaatcagctacatgctgaggaaacggccaaacaagtgttaaa                c.*1671

 (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 Potassium inwardly-rectifying channel, subfamily J, member 11 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.