nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2) - coding DNA reference sequence

(used for variant description)

(last modified October 20, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_014625.2 in the NPHS2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007535.1, covering NPHS2 transcript NM_014625.2.

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

 (upstream sequence)
                                         .         .                g.5025
                                    ggacccgcagcgactccacagggac       c.-61

 .         .         .         .         .         .                g.5085
 tgcgctcccgtgcccctagcgctcccgcgctgctgctccagccgcccggcagctctgagg       c.-1

          .         .         .         .         .         .       g.5145
 ATGGAGAGGAGGGCGCGGAGCTCCTCCAGGGAGTCCCGCGGGCGAGGCGGCAGGACTCCG       c.60
 M  E  R  R  A  R  S  S  S  R  E  S  R  G  R  G  G  R  T  P         p.20

          .         .         .         .         .         .       g.5205
 CACAAGGAGAACAAGAGGGCAAAGGCCGAGAGGAGCGGCGGAGGCCGCGGGCGCCAGGAG       c.120
 H  K  E  N  K  R  A  K  A  E  R  S  G  G  G  R  G  R  Q  E         p.40

          .         .         .         .         .         .       g.5265
 GCTGGGCCCGAGCCGTCGGGCTCCGGACGGGCGGGGACCCCGGGGGAGCCCCGAGCGCCC       c.180
 A  G  P  E  P  S  G  S  G  R  A  G  T  P  G  E  P  R  A  P         p.60

          .         .         .         .         .         .       g.5325
 GCCGCCACGGTGGTGGACGTGGATGAGGTCCGAGGCTCCGGCGAGGAGGGCACCGAGGTG       c.240
 A  A  T  V  V  D  V  D  E  V  R  G  S  G  E  E  G  T  E  V         p.80

          .         .         .     | 02   .         .         .    g.16182
 GTGGCGCTGTTGGAGAGCGAGCGGCCCGAGGAAG | GTACCAAATCCTCCGGCTTAGGGGCC    c.300
 V  A  L  L  E  S  E  R  P  E  E  G |   T  K  S  S  G  L  G  A      p.100

          .         .         .         .         .         .       g.16242
 TGTGAGTGGCTTCTTGTCCTCATTTCCCTGCTCTTCATCATCATGACCTTCCCTTTTTCC       c.360
 C  E  W  L  L  V  L  I  S  L  L  F  I  I  M  T  F  P  F  S         p.120

          .         | 03         .         .         .         .    g.19630
 ATCTGGTTCTGCGTAAAG | GTTGTACAAGAGTATGAAAGAGTAATTATATTCCGACTGGGA    c.420
 I  W  F  C  V  K   | V  V  Q  E  Y  E  R  V  I  I  F  R  L  G      p.140

          .         .         .  | 04      .         .         .    g.21217
 CATCTGCTTCCTGGAAGAGCCAAAGGCCCTG | GTCTTTTCTTTTTTTTGCCCTGCCTGGAT    c.480
 H  L  L  P  G  R  A  K  G  P  G |   L  F  F  F  L  P  C  L  D      p.160

          .         .         .         .         .     | 05   .    g.23725
 ACCTACCACAAGGTTGACCTTCGTCTCCAAACTCTGGAGATACCTTTTCATGAG | ATCGTG    c.540
 T  Y  H  K  V  D  L  R  L  Q  T  L  E  I  P  F  H  E   | I  V      p.180

          .         .         .         .         .         .       g.23785
 ACCAAAGACATGTTTATAATGGAGATAGATGCCATTTGCTACTACCGAATGGAAAATGCC       c.600
 T  K  D  M  F  I  M  E  I  D  A  I  C  Y  Y  R  M  E  N  A         p.200

          .         .         .         .         .         .       g.23845
 TCTCTTCTCCTAAGCAGTCTTGCTCATGTATCTAAAGCTGTGCAATTCCTTGTGCAAACC       c.660
 S  L  L  L  S  S  L  A  H  V  S  K  A  V  Q  F  L  V  Q  T         p.220

          .         .         .         .         .         .       g.23905
 ACTATGAAGCGTCTCCTAGCACATCGATCCCTCACTGAAATTCTTCTAGAGAGGAAGAGC       c.720
 T  M  K  R  L  L  A  H  R  S  L  T  E  I  L  L  E  R  K  S         p.240

          .         | 06         .         .         .         .    g.26460
 ATCGCCCAAGATGCAAAG | GTTGCCTTGGATTCAGTGACCTGTATTTGGGGAATCAAAGTG    c.780
 I  A  Q  D  A  K   | V  A  L  D  S  V  T  C  I  W  G  I  K  V      p.260

          .     | 07   .         .         .         .         .    g.28314
 GAGAGAATAGAAAT | TAAAGATGTGAGGTTGCCAGCTGGGCTTCAGCACTCACTGGCTGTG    c.840
 E  R  I  E  I  |  K  D  V  R  L  P  A  G  L  Q  H  S  L  A  V      p.280

          .         .         .    | 08    .         .         .    g.29525
 GAGGCTGAAGCGCAAAGACAAGCCAAAGTGCGG | ATGATTGCTGCAGAAGCGGAAAAGGCT    c.900
 E  A  E  A  Q  R  Q  A  K  V  R   | M  I  A  A  E  A  E  K  A      p.300

          .         .         .         .         .         .       g.29585
 GCTTCTGAGTCCCTGAGGATGGCAGCTGAGATTCTGTCAGGCACCCCTGCTGCCGTTCAG       c.960
 A  S  E  S  L  R  M  A  A  E  I  L  S  G  T  P  A  A  V  Q         p.320

          .         .         .         .         .         .       g.29645
 CTTCGATACCTCCACACCCTTCAGTCTCTGTCCACAGAGAAGCCTTCCACTGTGGTTTTA       c.1020
 L  R  Y  L  H  T  L  Q  S  L  S  T  E  K  P  S  T  V  V  L         p.340

          .         .         .         .         .         .       g.29705
 CCTTTGCCATTTGACCTACTGAATTGCCTGTCTTCTCCCAGCAACAGAACTCAGGGAAGC       c.1080
 P  L  P  F  D  L  L  N  C  L  S  S  P  S  N  R  T  Q  G  S         p.360

          .         .         .         .         .         .       g.29765
 CTCCCCTTCCCAAGTCCTTCCAAACCTGTTGAGCCACTAAATCCTAAAAAGAAAGACTCT       c.1140
 L  P  F  P  S  P  S  K  P  V  E  P  L  N  P  K  K  K  D  S         p.380

          .                                                         g.29777
 CCCATGTTATAG                                                       c.1152
 P  M  L  X                                                         p.383

          .         .         .         .         .         .       g.29837
 gaaggatggggcataatgtgactgtaaaggggcctgccatagaaaagtcacatgcctgag       c.*60

          .         .         .         .         .         .       g.29897
 ggagacactctgtcctcattccctgcccttcctttggttgccatatggaatggccatgga       c.*120

          .         .         .         .         .         .       g.29957
 atgcacgaagtcacaatgcaccatccatgagaagacggtgaaatgatgtaatgacagaga       c.*180

          .         .         .         .         .         .       g.30017
 aggcagacaacatgtttccgtgactcatctagtcagagcaattatgggaaacagctttgg       c.*240

          .         .         .         .         .         .       g.30077
 tcaacattctactttggaaagaattttgagtctagatgtggttaaattttgacttctggg       c.*300

          .         .         .         .         .         .       g.30137
 aacttggttcagatgtccctttcactgtatgtcctctgacccctttggcaaggttgccac       c.*360

          .         .         .         .         .         .       g.30197
 agctcccacagcccttcctacaagcacctatcattgggcttgtcacactctattgctctt       c.*420

          .         .         .         .         .         .       g.30257
 ctgtcccaaagatgcagtcttctctccaatgatactaccaagtcttagttttcctcaacc       c.*480

          .         .         .         .         .         .       g.30317
 acactcaatctttttgctccaccctgaattcctcacacctaaccctgatagttacctaaa       c.*540

          .         .         .         .         .         .       g.30377
 gtgacacttaaatgtttcagagtgaatgcaaaaaagagagatgtacttggagtcggatat       c.*600

          .         .         .                                     g.30411
 acaatttatccctaattaaagcatttaaaaggaa                                 c.*634

 (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 Nephrosis 2, idiopathic, steroid-resistant (podocin) 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.