pleckstrin homology domain interacting protein (PHIP) - coding DNA reference sequence

(used for variant description)

(last modified December 7, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_017934.5 in the PHIP gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_051932.1, covering PHIP transcript NM_017934.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5046
               ctgcggcggagggatccgcggcggaggcggccacggccgtagtcgc       c.-181

 .         .         .         .         .         .                g.5106
 tgcctgagagttgttgtttcctcctcctcctcctccgcctccgccgccgttgcttgaatg       c.-121

 .         .         .         .         .         .                g.5166
 gtggagccgaagctcggctcgtgaacacacactgacagctatagggcaggcggcggcacc       c.-61

 .         .         .         .         .         .                g.5226
 gtccccgcttcccctcggcggcggggtgtcccgtcggcggccctgaagtgacccataaac       c.-1

          .         .         .         . | 02       .         .    g.5401
 ATGTCTTGTGAGAGGAAAGGCCTCTCGGAGCTGCGATCGG | AGCTCTACTTCCTCATCGCC    c.60
 M  S  C  E  R  K  G  L  S  E  L  R  S  E |   L  Y  F  L  I  A      p.20

          .         .         .          | 03        .         .    g.5586
 CGGTTCCTGGAAGATGGACCCTGTCAGCAGGCGGCTCAG | GTGCTGATCCGCGAGGTGGCC    c.120
 R  F  L  E  D  G  P  C  Q  Q  A  A  Q   | V  L  I  R  E  V  A      p.40

           | 04        .         .         .         .         .    g.5838
 GAGAAGGAG | CTGCTGCCCCGGCGCACCGACTGGACCGGGAAGGAGCATCCCAGGACCTAC    c.180
 E  K  E   | L  L  P  R  R  T  D  W  T  G  K  E  H  P  R  T  Y      p.60

           | 05        .         .         .         .         .    g.22527
 CAGAATCTG | GTGAAGTATTACAGACACTTAGCACCTGATCACTTGCTGCAAATATGTCAT    c.240
 Q  N  L   | V  K  Y  Y  R  H  L  A  P  D  H  L  L  Q  I  C  H      p.80

          .         .         .         .         .         .       g.22587
 CGACTAGGACCTCTTCTTGAACAAGAAATTCCTCAAAGTGTTCCTGGAGTACAAACTTTA       c.300
 R  L  G  P  L  L  E  Q  E  I  P  Q  S  V  P  G  V  Q  T  L         p.100

          .         .         .         . | 06       .         .    g.22738
 TTAGGAGCTGGAAGACAGTCTTTACTACGCACAAATAAAA | GCTGCAAGCATGTTGTGTGG    c.360
 L  G  A  G  R  Q  S  L  L  R  T  N  K  S |   C  K  H  V  V  W      p.120

          .         .         .         .         .         .       g.22798
 AAAGGATCTGCTCTGGCTGCGTTGCACTGTGGAAGACCACCTGAGTCACCAGTTAACTAT       c.420
 K  G  S  A  L  A  A  L  H  C  G  R  P  P  E  S  P  V  N  Y         p.140

          .          | 07        .         .         .         .    g.40332
 GGTAGCCCACCCAGCATTG | CGGATACTCTGTTTTCAAGGAAGCTGAATGGGAAATACAGA    c.480
 G  S  P  P  S  I  A |   D  T  L  F  S  R  K  L  N  G  K  Y  R      p.160

          .         .         .         .         .         .       g.40392
 CTTGAGCGACTTGTTCCAACTGCAGTGTATCAGCACATGAAAATGCATAAACGAATTCTT       c.540
 L  E  R  L  V  P  T  A  V  Y  Q  H  M  K  M  H  K  R  I  L         p.180

          .         .         .         .         .         .       g.40452
 GGACACTTGTCATCTGTGTACTGTGTAACTTTTGATCGAACTGGCAGACGGATATTTACT       c.600
 G  H  L  S  S  V  Y  C  V  T  F  D  R  T  G  R  R  I  F  T         p.200

  | 08       .         .         .         .         .         .    g.57190
  | GGTTCTGATGACTGTCTTGTGAAAATATGGGCAACAGATGATGGGAGGTTGTTAGCTACC    c.660
  | G  S  D  D  C  L  V  K  I  W  A  T  D  D  G  R  L  L  A  T      p.220

          .         .         .         .         .         .       g.57250
 TTAAGAGGACATGCTGCTGAAATATCAGACATGGCTGTAAACTATGAGAATACCATGATA       c.720
 L  R  G  H  A  A  E  I  S  D  M  A  V  N  Y  E  N  T  M  I         p.240

          .         .         .         .         .         .       g.57310
 GCAGCTGGAAGTTGTGATAAAATGATCCGAGTCTGGTGTCTTCGAACCTGTGCACCTTTG       c.780
 A  A  G  S  C  D  K  M  I  R  V  W  C  L  R  T  C  A  P  L         p.260

          .         .         .         .   | 09     .         .    g.57693
 GCTGTTCTTCAGGGCCATAGTGCATCTATTACATCACTACAG | TTCTCACCATTGTGCAGT    c.840
 A  V  L  Q  G  H  S  A  S  I  T  S  L  Q   | F  S  P  L  C  S      p.280

          .         .         .         .         .         .       g.57753
 GGCTCAAAGAGATATCTATCTTCTACTGGGGCAGATGGCACTATTTGTTTTTGGCTCTGG       c.900
 G  S  K  R  Y  L  S  S  T  G  A  D  G  T  I  C  F  W  L  W         p.300

          .         .    | 10    .         .         .         .    g.64172
 GATGCTGGAACCCTTAAAATAAA | CCCAAGACCTGCAAAATTTACAGAGCGCCCTCGGCCT    c.960
 D  A  G  T  L  K  I  N  |  P  R  P  A  K  F  T  E  R  P  R  P      p.320

          .         .         .     | 11   .         .         .    g.65737
 GGAGTTCAAATGATCTGTTCTTCTTTTAGTGCTG | GTGGAATGTTTCTGGCGACGGGAAGC    c.1020
 G  V  Q  M  I  C  S  S  F  S  A  G |   G  M  F  L  A  T  G  S      p.340

          .         .         .         .         .         .       g.65797
 ACAGATCATATTATTCGGGTTTATTTTTTTGGATCAGGTCAGCCAGAGAAAATATCAGAA       c.1080
 T  D  H  I  I  R  V  Y  F  F  G  S  G  Q  P  E  K  I  S  E         p.360

          .      | 12  .         .         .         .       | 13 . g.66656
 TTGGAGTTTCATACT | GACAAAGTTGACAGTATCCAGTTTTCCAACACTAGTAACAG | GTTT c.1140
 L  E  F  H  T   | D  K  V  D  S  I  Q  F  S  N  T  S  N  R  |  F   p.380

          .         .         .         .         .         .       g.66716
 GTAAGTGGCAGTCGTGATGGGACAGCACGTATTTGGCAATTTAAACGAAGAGAGTGGAAG       c.1200
 V  S  G  S  R  D  G  T  A  R  I  W  Q  F  K  R  R  E  W  K         p.400

          .         .         .      | 14  .         .         .    g.67536
 AGCATTTTGTTGGATATGGCTACTCGTCCAGCAGG | CCAAAACCTTCAAGGAATAGAAGAT    c.1260
 S  I  L  L  D  M  A  T  R  P  A  G  |  Q  N  L  Q  G  I  E  D      p.420

          .         .         .         .         .         .       g.67596
 AAAATCACAAAAATGAAGGTTACTATGGTAGCTTGGGATCGACATGACAATACAGTTATA       c.1320
 K  I  T  K  M  K  V  T  M  V  A  W  D  R  H  D  N  T  V  I         p.440

          .         .         .         .         .         .       g.67656
 ACTGCAGTTAATAACATGACTCTGAAAGTTTGGAATTCTTACACTGGTCAACTAATTCAT       c.1380
 T  A  V  N  N  M  T  L  K  V  W  N  S  Y  T  G  Q  L  I  H         p.460

           | 15        .         .         .         .         .    g.68129
 GTCCTGATG | GGTCATGAAGATGAGGTATTTGTTCTTGAACCACACCCGTTCGATCCTAGA    c.1440
 V  L  M   | G  H  E  D  E  V  F  V  L  E  P  H  P  F  D  P  R      p.480

          .         .         .         .         .         .       g.68189
 GTTCTCTTTTCTGCTGGTCATGATGGAAACGTGATAGTGTGGGATCTGGCAAGAGGAGTC       c.1500
 V  L  F  S  A  G  H  D  G  N  V  I  V  W  D  L  A  R  G  V         p.500

          .         .     | 16   .         .         .         .    g.79472
 AAAATACGATCTTATTTCAATATG | ATTGAAGGCCAAGGACATGGCGCAGTATTTGACTGC    c.1560
 K  I  R  S  Y  F  N  M   | I  E  G  Q  G  H  G  A  V  F  D  C      p.520

          .         .         .         .         .         .       g.79532
 AAATGCTCTCCTGATGGTCAGCATTTTGCATGCACAGACTCTCATGGACATCTTTTAATT       c.1620
 K  C  S  P  D  G  Q  H  F  A  C  T  D  S  H  G  H  L  L  I         p.540

          .         .         .    | 17    .         .         .    g.81197
 TTTGGCTTTGGGTCCAGTAGCAAATATGACAAG | ATAGCAGATCAGATGTTCTTTCATAGT    c.1680
 F  G  F  G  S  S  S  K  Y  D  K   | I  A  D  Q  M  F  F  H  S      p.560

          .         .         .         .         .         .       g.81257
 GATTATCGGCCACTTATTCGTGATGCCAACAATTTTGTATTAGATGAACAGACTCAGCAA       c.1740
 D  Y  R  P  L  I  R  D  A  N  N  F  V  L  D  E  Q  T  Q  Q         p.580

          .         .         .         .         .         .       g.81317
 GCACCTCATCTTATGCCTCCCCCTTTTTTGGTTGATGTTGATGGTAACCCTCATCCATCA       c.1800
 A  P  H  L  M  P  P  P  F  L  V  D  V  D  G  N  P  H  P  S         p.600

          .         .         .         .         .         .       g.81377
 AGATATCAAAGATTAGTTCCTGGCCGTGAAAATTGCAGGGAGGAGCAACTCATCCCTCAG       c.1860
 R  Y  Q  R  L  V  P  G  R  E  N  C  R  E  E  Q  L  I  P  Q         p.620

          .          | 18        .         .         .         .    g.84944
 ATGGGAGTAACTTCCTCAG | GACTGAATCAAGTTTTAAGTCAGCAAGCAAACCAGGAGATC    c.1920
 M  G  V  T  S  S  G |   L  N  Q  V  L  S  Q  Q  A  N  Q  E  I      p.640

          .         .         .         .         .         .       g.85004
 AGCCCACTGGACAGCATGATTCAAAGACTACAACAGGAGCAAGACCTGAGACGTTCTGGT       c.1980
 S  P  L  D  S  M  I  Q  R  L  Q  Q  E  Q  D  L  R  R  S  G         p.660

          .         .         .        | 19.         .         .    g.85720
 GAAGCAGTTATCAGTAATACCAGCCGTTTAAGTAGAG | GCTCCATAAGTTCTACCTCAGAG    c.2040
 E  A  V  I  S  N  T  S  R  L  S  R  G |   S  I  S  S  T  S  E      p.680

          .         .         .         .         .         .       g.85780
 GTTCATTCACCACCAAACGTAGGACTAAGACGTAGTGGACAAATTGAAGGTGTACGGCAA       c.2100
 V  H  S  P  P  N  V  G  L  R  R  S  G  Q  I  E  G  V  R  Q         p.700

          .         .         .         .         .         .       g.85840
 ATGCACAGCAACGCACCAAGAAGTGAAATAGCCACAGAGCGGGATCTGGTAGCTTGGAGT       c.2160
 M  H  S  N  A  P  R  S  E  I  A  T  E  R  D  L  V  A  W  S         p.720

          .         .         .         .  | 20      .         .    g.92328
 CGAAGGGTGGTAGTACCCGAGCTATCAGCTGGTGTAGCCAG | TAGGCAAGAAGAATGGAGA    c.2220
 R  R  V  V  V  P  E  L  S  A  G  V  A  S  |  R  Q  E  E  W  R      p.740

          .         .         .         .         .         .       g.92388
 ACTGCAAAGGGAGAAGAAGAAATAAAGACTTACAGGTCAGAAGAGAAAAGAAAACACTTA       c.2280
 T  A  K  G  E  E  E  I  K  T  Y  R  S  E  E  K  R  K  H  L         p.760

          .         .         .          | 21        .         .    g.94966
 ACTGTTCCAAAAGAGAATAAAATACCCACTGTCTCAAAG | AATCATGCTCATGAGCATTTC    c.2340
 T  V  P  K  E  N  K  I  P  T  V  S  K   | N  H  A  H  E  H  F      p.780

          .         .         .         .         .         .       g.95026
 CTGGATCTTGGAGAATCCAAAAAGCAACAGACAAATCAACACAATTATCGTACAAGATCT       c.2400
 L  D  L  G  E  S  K  K  Q  Q  T  N  Q  H  N  Y  R  T  R  S         p.800

          .         .         .         .         .         .       g.95086
 GCATTGGAAGAGACTCCTAGACCCTCAGAAGAGATAGAAAATGGCAGTAGTTCTTCAGAT       c.2460
 A  L  E  E  T  P  R  P  S  E  E  I  E  N  G  S  S  S  S  D         p.820

  | 22       .         .         .         .         .         .    g.97926
  | GAAGGCGAAGTAGTTGCTGTCAGTGGTGGAACATCCGAAGAAGAAGAGAGAGCATGGCAC    c.2520
  | E  G  E  V  V  A  V  S  G  G  T  S  E  E  E  E  R  A  W  H      p.840

          .        | 23.         .         .         .         .    g.100220
 AGTGATGGCAGTTCTAG | TGACTACTCCAGTGATTACTCTGACTGGACAGCAGATGCAGGA    c.2580
 S  D  G  S  S  S  |  D  Y  S  S  D  Y  S  D  W  T  A  D  A  G      p.860

          .         .         .         .         .         .       g.100280
 ATTAATCTGCAGCCACCAAAGAAAGTTCCTAAGAATAAAACCAAGAAAGCAGAAAGCAGT       c.2640
 I  N  L  Q  P  P  K  K  V  P  K  N  K  T  K  K  A  E  S  S         p.880

          .         .         .         .         .         .       g.100340
 TCAGATGAAGAAGAAGAATCTGAAAAACAGAAGCAAAAACAGATTAAAAAGGAAAAGAAA       c.2700
 S  D  E  E  E  E  S  E  K  Q  K  Q  K  Q  I  K  K  E  K  K         p.900

          .         .         .         .         .         .       g.100400
 AAAGTAAATGAAGAAAAAGATGGACCAATATCACCAAAGAAAAAGAAGCCCAAAGAAAGA       c.2760
 K  V  N  E  E  K  D  G  P  I  S  P  K  K  K  K  P  K  E  R         p.920

           | 24        .         .         .         .         .    g.104634
 AAACAAAAG | AGATTGGCTGTGGGAGAACTAACTGAAAATGGTTTGACATTAGAAGAATGG    c.2820
 K  Q  K   | R  L  A  V  G  E  L  T  E  N  G  L  T  L  E  E  W      p.940

          .         .         .         .         .         .       g.104694
 TTGCCATCAACATGGATTACAGATACCATTCCCCGAAGATGTCCATTTGTGCCACAGATG       c.2880
 L  P  S  T  W  I  T  D  T  I  P  R  R  C  P  F  V  P  Q  M         p.960

           | 25        .         .         .         .         .    g.112457
 GGTGATGAG | GTTTATTATTTCCGACAAGGACATGAAGCCTATGTCGAAATGGCCCGGAAA    c.2940
 G  D  E   | V  Y  Y  F  R  Q  G  H  E  A  Y  V  E  M  A  R  K      p.980

          .         .         .         .         .        | 26.    g.113124
 AATAAAATATATAGTATCAATCCCAAAAAACAACCATGGCATAAAATGGAGCTACGG | GAA    c.3000
 N  K  I  Y  S  I  N  P  K  K  Q  P  W  H  K  M  E  L  R   | E      p.1000

          .         .         .         .         .         .       g.113184
 CAAGAACTTATGAAAATAGTTGGCATAAAGTATGAAGTGGGATTACCTACCCTTTGCTGC       c.3060
 Q  E  L  M  K  I  V  G  I  K  Y  E  V  G  L  P  T  L  C  C         p.1020

          .         .         .         .         .         .       g.113244
 CTTAAACTTGCTTTTCTAGATCCTGATACTGGTAAACTGACTGGCGGATCATTTACCATG       c.3120
 L  K  L  A  F  L  D  P  D  T  G  K  L  T  G  G  S  F  T  M         p.1040

    | 27     .         .         .         .         .         .    g.113435
 AA | ATACCATGATATGCCTGACGTTATAGATTTCCTAGTCTTGAGACAACAATTTGATGAT    c.3180
 K  |  Y  H  D  M  P  D  V  I  D  F  L  V  L  R  Q  Q  F  D  D      p.1060

          .         .      | 28  .         .         .         .    g.117273
 GCAAAATACAGGCGATGGAATATAG | GTGACCGCTTCAGGTCTGTCATAGATGATGCCTGG    c.3240
 A  K  Y  R  R  W  N  I  G |   D  R  F  R  S  V  I  D  D  A  W      p.1080

          .         .         .         .         .         .       g.117333
 TGGTTTGGAACAATCGAAAGCCAGGAACCTCTTCAACTTGAGTACCCTGATAGTCTGTTT       c.3300
 W  F  G  T  I  E  S  Q  E  P  L  Q  L  E  Y  P  D  S  L  F         p.1100

          .        | 29.         .         .         .         .    g.117573
 CAATGCTACAATGTTTG | CTGGGACAATGGAGATACAGAAAAGATGAGTCCTTGGGATATG    c.3360
 Q  C  Y  N  V  C  |  W  D  N  G  D  T  E  K  M  S  P  W  D  M      p.1120

          .          | 30        .         .         .         .    g.120083
 GAGCTTATACCTAATAATG | CTGTATTTCCTGAAGAACTAGGTACCAGTGTTCCTTTAACT    c.3420
 E  L  I  P  N  N  A |   V  F  P  E  E  L  G  T  S  V  P  L  T      p.1140

          .         .         .         .         .         .       g.120143
 GATGGTGAGTGCAGATCACTAATCTATAAACCTCTTGATGGAGAATGGGGTACCAATCCC       c.3480
 D  G  E  C  R  S  L  I  Y  K  P  L  D  G  E  W  G  T  N  P         p.1160

          .         .         .         .         .      | 31  .    g.121489
 AGGGATGAAGAATGTGAAAGAATTGTGGCAGGAATAAACCAGTTGATGACACTAG | ATATT    c.3540
 R  D  E  E  C  E  R  I  V  A  G  I  N  Q  L  M  T  L  D |   I      p.1180

          .         .         .         .         .         .       g.121549
 GCCTCAGCATTTGTGGCCCCCGTGGATCTGCAAGCCTATCCCATGTATTGCACAGTAGTG       c.3600
 A  S  A  F  V  A  P  V  D  L  Q  A  Y  P  M  Y  C  T  V  V         p.1200

          .         .         .         .         .       | 32 .    g.124698
 GCATATCCAACGGATCTAAGTACAATTAAACAAAGACTGGAAAACAGGTTTTACAG | GCGG    c.3660
 A  Y  P  T  D  L  S  T  I  K  Q  R  L  E  N  R  F  Y  R  |  R      p.1220

          .         .         .         .         .         .       g.124758
 GTTTCTTCCCTAATGTGGGAAGTTCGATATATAGAGCATAATACACGAACATTTAATGAG       c.3720
 V  S  S  L  M  W  E  V  R  Y  I  E  H  N  T  R  T  F  N  E         p.1240

          .         .         .         .         .         .       g.124818
 CCTGGAAGCCCTATTGTGAAATCTGCTAAATTCGTGACTGATCTTCTTCTACATTTTATA       c.3780
 P  G  S  P  I  V  K  S  A  K  F  V  T  D  L  L  L  H  F  I         p.1260

    | 33     .         .         .         .         .         .    g.127670
 AA | GGATCAGACTTGTTATAACATAATTCCACTTTATAATTCAATGAAGAAGAAAGTTTTG    c.3840
 K  |  D  Q  T  C  Y  N  I  I  P  L  Y  N  S  M  K  K  K  V  L      p.1280

          .   | 34     .         .         .         .         .    g.128060
 TCTGATTCTGAG | GATGAAGAGAAAGATGCTGATGTGCCAGGAACTTCTACTCGAAAAAGG    c.3900
 S  D  S  E   | D  E  E  K  D  A  D  V  P  G  T  S  T  R  K  R      p.1300

     | 35    .         .         .         .         .         .    g.128388
 AAG | GACCATCAGCCTAGAAGAAGATTACGTAATAGAGCCCAGTCTTACGATATTCAAGCA    c.3960
 K   | D  H  Q  P  R  R  R  L  R  N  R  A  Q  S  Y  D  I  Q  A      p.1320

          .         .         .         .         .         .       g.128448
 TGGAAGAAACAGTGTGAAGAATTGTTAAATCTCATATTTCAATGTGAAGATTCAGAGCCT       c.4020
 W  K  K  Q  C  E  E  L  L  N  L  I  F  Q  C  E  D  S  E  P         p.1340

          .         .         .    | 36    .         .         .    g.135546
 TTCCGTCAGCCGGTAGATCTCCTTGAATATCCA | GACTACAGAGACATCATTGACACTCCA    c.4080
 F  R  Q  P  V  D  L  L  E  Y  P   | D  Y  R  D  I  I  D  T  P      p.1360

          .         .         .         .         .         .       g.135606
 ATGGATTTTGCTACCGTTAGAGAAACTTTAGAGGCTGGGAATTATGAGTCACCAATGGAG       c.4140
 M  D  F  A  T  V  R  E  T  L  E  A  G  N  Y  E  S  P  M  E         p.1380

          .         .         .         .         .         .       g.135666
 TTATGTAAAGATGTCAGACTTATTTTCAGTAATTCCAAAGCATATACACCAAGCAAAAGA       c.4200
 L  C  K  D  V  R  L  I  F  S  N  S  K  A  Y  T  P  S  K  R         p.1400

        | 37 .         .         .         .         .         .    g.136474
 TCAAGG | ATTTACAGCATGAGTTTGCGCCTGTCTGCTTTCTTTGAAGAACACATTAGTTCA    c.4260
 S  R   | I  Y  S  M  S  L  R  L  S  A  F  F  E  E  H  I  S  S      p.1420

          .         .         .         .         .         .       g.136534
 GTTTTATCAGATTATAAATCTGCTCTTCGTTTTCATAAAAGAAATACCATAACCAAAAGG       c.4320
 V  L  S  D  Y  K  S  A  L  R  F  H  K  R  N  T  I  T  K  R         p.1440

          .         .         .         .         . | 38       .    g.137044
 AGGAAGAAAAGAAACAGAAGCAGCTCTGTTTCCAGTAGTGCTGCATCAAG | CCCTGAAAGG    c.4380
 R  K  K  R  N  R  S  S  S  V  S  S  S  A  A  S  S  |  P  E  R      p.1460

          .         .         .         .         .         .       g.137104
 AAAAAAAGGATCTTAAAACCCCAGCTAAAATCAGAAAGCTCTACCTCTGCATTCTCTACA       c.4440
 K  K  R  I  L  K  P  Q  L  K  S  E  S  S  T  S  A  F  S  T         p.1480

          .         .         .         .         .         .       g.137164
 CCTACACGATCAATACCGCCAAGACACAATGCTGCTCAGATAAACGGTAAAACAGAATCT       c.4500
 P  T  R  S  I  P  P  R  H  N  A  A  Q  I  N  G  K  T  E  S         p.1500

          .         .         .         .         .         .       g.137224
 AGTTCTGTGGTTCGAACCAGAAGCAACCGAGTGGTTGTAGATCCAGTTGTCACTGAGCAA       c.4560
 S  S  V  V  R  T  R  S  N  R  V  V  V  D  P  V  V  T  E  Q         p.1520

          .         .         .         .         .         .       g.137284
 CCATCTACTTCTTCAGCTGCAAAGACTTTTATTACAAAAGCTAATGCATCTGCAATACCA       c.4620
 P  S  T  S  S  A  A  K  T  F  I  T  K  A  N  A  S  A  I  P         p.1540

          . | 39       .         .         .         .         .    g.137847
 GGGAAAACAA | TACTAGAGAATTCTGTGAAACATTCCAAAGCTTTGAATACTCTTTCCAGT    c.4680
 G  K  T  I |   L  E  N  S  V  K  H  S  K  A  L  N  T  L  S  S      p.1560

          .         .         .         .         .         .       g.137907
 CCTGGTCAATCCAGTTTTAGTCATGGCACTAGGAATAATTCTGCAAAAGAAAACATGGAA       c.4740
 P  G  Q  S  S  F  S  H  G  T  R  N  N  S  A  K  E  N  M  E         p.1580

          .         .         .         .         .         .       g.137967
 AAGGAAAAGCCAGTCAAACGTAAAATGAAGTCATCTGTACTCCCAAAGGCGTCCACTCTT       c.4800
 K  E  K  P  V  K  R  K  M  K  S  S  V  L  P  K  A  S  T  L         p.1600

          .         .         | 40         .         .         .    g.141996
 TCAAAGTCATCAGCTGTCATTGAGCAAG | GAGATTGTAAGAACAACGCTCTTGTACCAGGA    c.4860
 S  K  S  S  A  V  I  E  Q  G |   D  C  K  N  N  A  L  V  P  G      p.1620

          .         .         .         .         .         .       g.142056
 ACCATTCAAGTAAATGGCCATGGAGGACAGCCATCAAAACTTGTGAAGAGGGGACCTGGA       c.4920
 T  I  Q  V  N  G  H  G  G  Q  P  S  K  L  V  K  R  G  P  G         p.1640

          .         .         .         .         .         .       g.142116
 AGGAAACCTAAAGTAGAAGTTAATACCAATAGTGGTGAAATTATACACAAGAAAAGGGGT       c.4980
 R  K  P  K  V  E  V  N  T  N  S  G  E  I  I  H  K  K  R  G         p.1660

          .         .         .         .         .         .       g.142176
 AGAAAGCCCAAAAAGCTACAGTATGCAAAGCCAGAAGATTTAGAGCAAAATAATGTGCAT       c.5040
 R  K  P  K  K  L  Q  Y  A  K  P  E  D  L  E  Q  N  N  V  H         p.1680

          .         .         .         .         .         .       g.142236
 CCCATCAGAGATGAAGTACTTCCTTCTTCAACATGCAATTTTCTTTCTGAAACTAATAAT       c.5100
 P  I  R  D  E  V  L  P  S  S  T  C  N  F  L  S  E  T  N  N         p.1700

          .         .         .         .         .         .       g.142296
 GTAAAGGAAGATTTGTTACAGAAAAAGAATCGTGGAGGTAGGAAGCCCAAAAGGAAGATG       c.5160
 V  K  E  D  L  L  Q  K  K  N  R  G  G  R  K  P  K  R  K  M         p.1720

          .         .         .         .         .         .       g.142356
 AAGACACAAAAATTAGATGCAGATCTCCTAGTCCCTGCAAGTGTCAAAGTGTTAAGGAGA       c.5220
 K  T  Q  K  L  D  A  D  L  L  V  P  A  S  V  K  V  L  R  R         p.1740

          .         .         .         .         .         .       g.142416
 AGTAACCGAAAAAAGATAGATGATCCTATAGATGAGGAAGAAGAGTTTGAAGAACTCAAA       c.5280
 S  N  R  K  K  I  D  D  P  I  D  E  E  E  E  F  E  E  L  K         p.1760

          .         .         .         .         .         .       g.142476
 GGCTCTGAACCCCACATGAGAACTAGAAATCAAGGTCGAAGGACAGCTTTCTATAATGAG       c.5340
 G  S  E  P  H  M  R  T  R  N  Q  G  R  R  T  A  F  Y  N  E         p.1780

          .         .         .         .         .         .       g.142536
 GATGACTCTGAAGAGGAGCAAAGGCAGCTGTTGTTCGAAGACACCTCTTTAACTTTTGGA       c.5400
 D  D  S  E  E  E  Q  R  Q  L  L  F  E  D  T  S  L  T  F  G         p.1800

          .         .         .         .         .         .       g.142596
 ACTTCTAGTAGAGGACGAGTCCGAAAGTTGACTGAAAAAGCAAAAGCTAATTTAATTGGT       c.5460
 T  S  S  R  G  R  V  R  K  L  T  E  K  A  K  A  N  L  I  G         p.1820

                                                                    g.142602
 TGGTAA                                                             c.5466
 W  X                                                               p.1821

          .         .         .         .         .         .       g.142662
 cttgtaccaaaatattttacttcaaaatctataaagcaggtacagttaaggaataagtag       c.*60

          .         .         .         .         .         .       g.142722
 aactaaggcttctgcttccttgctgctgtggtggagtagggaatgttatgatttgatttg       c.*120

          .         .         .         .         .         .       g.142782
 caaaaaaaaaaaaaaaaaaaaaaacaaacttacgagacacttcacttctttaaatgaata       c.*180

          .         .         .         .         .         .       g.142842
 tatatatatatatataaatatatacatatatattttaaatgtttgctatttattgccctt       c.*240

          .         .         .         .         .         .       g.142902
 agataggttatgcattttcacattcatttcattcactgtttgaaacgaaagaaattgatc       c.*300

          .         .         .         .         .         .       g.142962
 tataatgaattcctgatttatttatagaaaagacaattctgctacactctttaggagcat       c.*360

          .         .         .         .         .         .       g.143022
 aatattcctagtgatagagcatttcatgttaaaatgaattatttttgaccaagtgaggta       c.*420

          .         .         .         .         .         .       g.143082
 catttctattgatacaagtcatgcccctaaaagatagatgttatacagagtagcagtgaa       c.*480

          .         .         .         .         .         .       g.143142
 ttaagaaatgtttcctctaaaagataaatataaaatttccaccatttgataccctaaaca       c.*540

          .         .         .         .         .         .       g.143202
 gtttaattttaattatagaatgttcatctacaaagtatctagaggaggcttttgctttat       c.*600

          .         .         .         .         .         .       g.143262
 tccatttctgccaaacaagagaaaatgtactgatgaagggaaacatatccacattggaaa       c.*660

          .         .         .         .         .         .       g.143322
 acatttgactgtctaatttttcagaccttgattcttatatcactcaatctctgtttattg       c.*720

          .         .         .         .         .         .       g.143382
 tgccaaagactgagaatcagtgcagtggaaagcctgtttttgacgtcaggacagcataca       c.*780

          .         .         .         .         .         .       g.143442
 cttttcaatattggaaaggctatatattctaaagagcaagttattaaagagttatgctga       c.*840

          .         .         .         .         .         .       g.143502
 gatatatctttttttggtactaatagaaaataatgcactggtgggtcctttgacagagat       c.*900

          .         .         .         .         .         .       g.143562
 gttctagaggaaatgtttaagtggttaaaggattcaaggaaaatacaggaaaaaaggtat       c.*960

          .         .         .         .         .         .       g.143622
 gggatttgatgtttacttgttgatctggattaatgtcatttctaaactttagacatatct       c.*1020

          .         .         .         .         .         .       g.143682
 aatagcctaaaatgacttacaaagaaacgtgtctgtgtgtgtatgtgtatatattgataa       c.*1080

          .         .         .         .         .         .       g.143742
 atgggtataattaaatatatatacaaacacatacttatatactattacccaggtataaat       c.*1140

          .         .         .         .         .         .       g.143802
 tcttttttcaggattttttagatagcagtagaataaaaataattttaaaatgtcatactt       c.*1200

          .         .         .         .         .         .       g.143862
 tatagtttaattttaagggggaaattggttattttcaattattaaaggttaaaataggcc       c.*1260

          .         .         .         .         .         .       g.143922
 aaatcactttttatgcaatcatgttttatacagtggtctcattgcacattgtgttttttc       c.*1320

          .         .         .         .         .         .       g.143982
 tgcactttttacggtatccttatcatgctggtatgtcaatatacaccctaaagaaaaact       c.*1380

          .         .         .         .         .         .       g.144042
 ccatttaatgattgtgccttgtattctattattttttgcatcattagtaaaattaagttg       c.*1440

          .         .         .         .         .         .       g.144102
 tctattgtaaatgataactatatgacttaggagaatgtattgctatatgtactgctatgg       c.*1500

          .         .         .         .         .         .       g.144162
 aaaaggaaagcagttatttatttgtttatggtacagttagttattttataccttaaaaac       c.*1560

          .         .         .         .         .         .       g.144222
 caacatacttaccatttctattgtttaaaaattactgtccatttttttaaaaatttaaag       c.*1620

          .         .         .         .         .         .       g.144282
 aatgtagtattttctgaggactggtatggtacaaaaatgtaatcaaaattttcagatact       c.*1680

          .         .         .         .         .         .       g.144342
 acatttttaaaaagtgaggatggggaaaatatgtatcagcatgaccctgatgtagaaaaa       c.*1740

          .         .         .         .         .         .       g.144402
 taaagtctgcaattgaaccttggcaaaatacattacataattatttctgataaggataaa       c.*1800

          .         .         .         .         .         .       g.144462
 tattagctgtcatttaactgtcgtgaagaatgaaaaagtgatacatttgggctttttaga       c.*1860

          .         .         .         .         .         .       g.144522
 tcatttgtaactaaatttgtacagaaattctcctgtgaaattaagtaaaccattttccag       c.*1920

          .         .         .         .         .         .       g.144582
 atcttgactgcattgctgagattttgcagttgaaaaataatttcaaatttttcaggtttt       c.*1980

          .         .         .         .         .         .       g.144642
 ttgtatatttatttttttctaacaaatatatttaactataaaattaaaattcagtagtta       c.*2040

          .         .         .         .         .         .       g.144702
 aactcttcataatgcagaaatggatggcttgattgtatagaaaaatgagtctttcagtta       c.*2100

          .         .         .         .         .         .       g.144762
 caccattcttgaaaataatagtgtatgtttgaaatttgtcattaattagttgcttttgaa       c.*2160

          .         .         .         .         .         .       g.144822
 ggcaatctatttgaaatatgtaatttcctgatgttatctgcattgtgttaagaaaaaaat       c.*2220

          .         .         .         .         .         .       g.144882
 aataggctataaaatcaatttttgtaaaaaaaatgtacagttttaagttgtgtacagaaa       c.*2280

          .         .         .         .         .         .       g.144942
 aaggaagagcgtacacagtcttagagtggaatatacctctagtacagtgtatgtgttaat       c.*2340

          .         .         .         .         .         .       g.145002
 tccaactcaagcaaagaaatgagtatttaccatctttcctataacatgtaaatgtattat       c.*2400

          .         .         .         .         .         .       g.145062
 tcctgttctacagacactgtatatttatgaccttatttggacattattagacactggttt       c.*2460

          .         .         .         .         .         .       g.145122
 cttagtaaagcacagtaacttggatcagattctttgtaaccgaaacacttaaacatgtat       c.*2520

          .         .         .         .         .         .       g.145182
 tagtaataccaatatatttagattttatatttttataatttagcttctatgcattacaga       c.*2580

          .         .         .         .         .         .       g.145242
 agttgaattaagaaatttaagtcatcaccatatttttgttttctttaccacttgggaaaa       c.*2640

          .         .         .         .         .         .       g.145302
 taatcctctttgaggcagtaacactatgtatgtactgttaataggccagaaagaaatatt       c.*2700

          .         .         .         .         .         .       g.145362
 ggcagttgtcttaggtaagcaataaaaacatctccaatttactgaaagttcagaaatata       c.*2760

          .         .         .         .         .         .       g.145422
 actcttacatgcatggaaagtgtaaaccaatttaggtatttctaagtacccaaccctagt       c.*2820

          .         .         .         .         .         .       g.145482
 attctctccctcaactccaacattctcaagtcccagatgaaaagtttcagtggagcatta       c.*2880

          .         .         .         .         .         .       g.145542
 gtttaaatatttagtctaatcagagactcacagccctgggcaatagatacatagcttttt       c.*2940

          .         .         .         .         .         .       g.145602
 aaaattttatcctttgtgacctgctatagtggcattggactattttctgcatgtattata       c.*3000

          .         .         .         .         .         .       g.145662
 aactaaagattggccttatttcaattgtttttattgcacaacttcactacaaatttaaag       c.*3060

          .         .         .         .         .         .       g.145722
 actgctggcattattataaaactgtcttcctccaatccaagtaaataagtatgtggaata       c.*3120

          .         .         .         .         .         .       g.145782
 tttgtgagctggattaggtaacatctgagacttgggattgactaaatttagttatcactt       c.*3180

          .         .         .         .         .         .       g.145842
 ggaaatgaattacataagatacagtaatcagagaaaatatctttatgcagcatgtatgtt       c.*3240

          .         .         .         .         .         .       g.145902
 aacatctagaactgtccctcatctgcagtgcagtagaggaatcagacattttaagaaatg       c.*3300

          .         .         .         .         .         .       g.145962
 tattcaaatatttttatcttatatgttagcagcatttacatgttttcagatatgatttgt       c.*3360

          .         .         .         .         .         .       g.146022
 aatataaattaatttctccagttaacaatgtttacttcaattctgacattccattttata       c.*3420

          .         .         .         .         .         .       g.146082
 catatatacctactgtatatctctctcaaatgtcagctagaagcaactttttcagttttc       c.*3480

          .         .         .         .         .         .       g.146142
 tatctaatgaaaacggatatattctgaatgtttttgttacctgaaatttatttttgagta       c.*3540

          .         .         .         .         .         .       g.146202
 ggttgaaaggaccaagatacttgagtgattaaaggactgtaagtgttctgcttatatgca       c.*3600

          .         .         .         .         .         .       g.146262
 ggagttacatgattttaaaagtcataataggggaagtagttttatcatctgattactcct       c.*3660

          .         .         .         .         .         .       g.146322
 attaacctaaaaagtatttctaacataacagattgagcagtggttttgttacacttaggc       c.*3720

          .         .         .         .         .         .       g.146382
 aagaatttattttcccattaaaatttgaaaaatacacttttctttgcttctacccttgca       c.*3780

          .         .         .         .         .         .       g.146442
 gtttcccttagttcccctaatttccaagtgatctgaactaaaattaatattacatttact       c.*3840

          .         .         .         .         .         .       g.146502
 aagaaactatttttgttaattatactgagcaaagtttgctccaaatgaaaagtcattacg       c.*3900

          .         .         .         .         .         .       g.146562
 aactatgtatagtacccaagaaaaggtcaaattgagtcagaagactgtaagtaccacttt       c.*3960

          .         .         .         .         .         .       g.146622
 tggcgctccagagataaaccttgtacacactgcagtagaacagtgagtagaaaatatgag       c.*4020

          .         .         .         .         .         .       g.146682
 ctataaatagatattatttttagttttgatagctctgtgttgaaatacttttttaatgca       c.*4080

          .         .         .         .         .         .       g.146742
 gataaaaattatcaggaaattaaccttatggcacagaccaaatacttagtgcatggctga       c.*4140

          .         .         .         .         .         .       g.146802
 gtttctacaattcaaggagccaagaaaataggttcaagatggaatatagtacatgcatat       c.*4200

          .         .         .         .         .         .       g.146862
 aaggcagatgcacacatgctggttactttaagattgtgtgtgttgattagtcacaatgat       c.*4260

          .         .         .         .         .         .       g.146922
 agactataacatgagacaatacaaagttacatttttggaccatattaaaactgcaagaag       c.*4320

          .         .         .         .         .         .       g.146982
 acaggggtcttactgaagatcttttagaaaacttaaatcctgtcacaggatatttagaca       c.*4380

          .         .         .         .         .         .       g.147042
 tgtgtagaatgtagctcaatttttaaaaagtaactgacctagagggtgaaagttgaaact       c.*4440

          .         .         .         .         .         .       g.147102
 gacacattttcaaattaagattatgcttattttgtacagaaaacaatgtttaaacacaag       c.*4500

          .         .         .         .         .         .       g.147162
 cagatctgttgtatgtaataagtaacacagagttttaaaacaaattaattatttagcttt       c.*4560

          .         .         .         .         .         .       g.147222
 attgaagtttgtttttttccttccgaacctggagtatcatattataaacagcagtttcac       c.*4620

          .         .         .         .         .         .       g.147282
 accagaatagcagtgccctttctttttgtacatactgattggacctttctttactgttac       c.*4680

          .         .         .         .         .         .       g.147342
 gtggacactttctatgttagttttgatgcataattctttgaatccttttatacaaactag       c.*4740

          .         .         .         .         .         .       g.147402
 aatgtatgtgtaagaatacctgtccctgcaatgtagtaactacaaacttatttttaaata       c.*4800

          .         .         .         .         .         .       g.147462
 aatagaaaacttgtttttctaagctattttgtagagcctcatgatttattatttgctttt       c.*4860

          .         .         .         .         .         .       g.147522
 taaagttttttggcatcacataaagcacttagtacataatctcaacaagctgcttaccaa       c.*4920

          .         .         .         .         .         .       g.147582
 agtggtcatatggcagataccattatgtaaatgctggttcattagagtttccagtgccct       c.*4980

          .         .         .         .         .         .       g.147642
 gtgtgttttgcaaagtgtgaaaactgtcagttaaaagatatttgggtgccgaaatgtaat       c.*5040

          .         .         .         .         .         .       g.147702
 ttaattccaaaacaactgaaggtcaaaaacttatatgcctttttatgtgtacatttaata       c.*5100

          .         .         .         .         .         .       g.147762
 aaacaattttattgatttcttaccgtaagttactgtgatgagtgataaatacttcactat       c.*5160

          .         .         .         .         .         .       g.147822
 tcagatactttcgtaagagatacatttcagtggaacactttgcataaatattttctcaaa       c.*5220

          .         .         .         .         .         .       g.147882
 aatgtgcaatttctgggaaaaaaggaatgatggaaagaaggttattgcagttttcctaga       c.*5280

          .         .         .         .         .         .       g.147942
 aattttgtcagattggcatgcatttttattgactaagaatcccaattttagcatgaagac       c.*5340

          .         .         .         .         .         .       g.148002
 cattagatatgaatacataaggccataacatttcaaattaagcacatggagtgatttgta       c.*5400

          .         .         .         .         .         .       g.148062
 attttgtgttaatttctccctaagatgttttgttaaaatgattttgtatataataaattt       c.*5460

          .         .         .         .         .         .       g.148122
 ctaagttgaggaaggaaggtaaaaaaaattcctgataaccttttctttatgaagtctgct       c.*5520

          .         .         .         .         .         .       g.148182
 aataacaatacctagtatatacttagaagaaccagccaagaaaaattacctttcagcaac       c.*5580

          .         .         .         .         .         .       g.148242
 cactctttacttatttctcttttgtaataataccaattttatgacccaggattccccagt       c.*5640

          .         .         .         .         .         .       g.148302
 atttaacggaagtaagattaaagaccaaagcacaaaacctctgttccttgcaatatagta       c.*5700

          .         .         .         .         .         .       g.148362
 cttcgtgtttgtaatcaatgtgtggtaaatttaacacatttaccacttactgattagtct       c.*5760

          .         .         .         .         .         .       g.148422
 ttgggaaaagaatggtggaagtcattcaatgaaatacctttctacctaattggttagaca       c.*5820

          .         .         .         .         .         .       g.148482
 tactggcagcacagtgtaatgaactggcctggagttgggaaatgggaatttgaccttcat       c.*5880

          .         .         .         .         .         .       g.148542
 tcctgacaggaagtagaggaaccccagcaaagtcgtatctcagagcttcattttcctcat       c.*5940

          .         .         .         .         .         .       g.148602
 ctgtaaagttttaaaggttgattaaattatctgtgaggtctaattctgttcaaatagcca       c.*6000

          .         .         .         .         .         .       g.148662
 gtggtgataatctcatttgtatactgtcctctgtattcatggctcaactttggcttttat       c.*6060

          .         .         .         .         .         .       g.148722
 atttagtccctaaatagaatacatcatttaatgtgtagcttccagacaagctgtgtcttg       c.*6120

          .         .         .         .         .         .       g.148782
 cggccatgacctgattgttgttaagtgtgaggttttctgaacccttagcagaaggacttt       c.*6180

          .         .         .         .         .         .       g.148842
 taatgtttttacaacacactattgtattgctataaattgtgaattgctttaaaagtacat       c.*6240

          .         .         .                                     g.148876
 gtttactaataaaaagaagtacaggcacacttta                                 c.*6274

 (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 10th nucleotide is indicated by a "." above the sequence. The Pleckstrin homology domain interacting protein protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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