FERM and PDZ domain containing 4 (FRMPD4) - coding DNA reference sequence

(used for variant description)

(last modified October 14, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_014728.3 in the FRMPD4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016419.1, covering FRMPD4 transcript NM_014728.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5026
                                   gggaggcagctgcagtgctgcgaggg       c.-481

 .         .         .         .         .         .                g.5086
 gtgcgtgcgcgtgtgcccagctcgcctgccgtctcccggctccgtctgcgctcctcggtg       c.-421

 .         .         .         .         .         .                g.5146
 cgtggggcacgagggtccgagggccgggaagccagagcagcgcctctcgcccaggcctcg       c.-361

 .         .         .         .         .         .                g.5206
 ctttctctggacgcccggcagtccccggggctagagcgcacggggcggggcgcgagaccc       c.-301

 .         .         .         .         .         .                g.5266
 gggccgcgctccccgcccccgcctcttgcgccctgcctggctccctctccattgagtttt       c.-241

 .         .         .         .         .         .                g.5326
 cctgcctcgggtgcctatcaatggtcctgctcggggatgcacacgcagctcgcggccgga       c.-181

 .         .         .         .         .         .                g.5386
 ggggggtagcagccgccgcctccaggtgcaggttctctccggccgccgccgccacccgct       c.-121

 .         .         .         .         .         .                g.5446
 gtcgccgcgactcgagccccgggcgcactgaggtcttggccatggggctgcggaggctgc       c.-61

 .         .         .         .         .         .                g.5506
 tgttgctggcgtgagaaggggcgacggagttgtcgcgctcgggggtccccagctgcctgc       c.-1

          .         .         .         .  | 02      .         .    g.365233
 ATGGATGTCTTCAGCTTTGTGAAGATTGCAAAGCTTTCGAG | CCACAGGACGAAGTCTTCA    c.60
 M  D  V  F  S  F  V  K  I  A  K  L  S  S  |  H  R  T  K  S  S      p.20

          .         .         .         .         .         .       g.365293
 GGCTGGCCGCCTCCCTCGGGAACCTGGGGCTTGAGCCAGGTGCCGCCCTATGGATGGGAG       c.120
 G  W  P  P  P  S  G  T  W  G  L  S  Q  V  P  P  Y  G  W  E         p.40

          .         .         .         | 03         .         .    g.476277
 ATGACGGCAAACCGAGATGGGCGAGACTACTTCATCAA | TCACATGACACAGGCAATCCCT    c.180
 M  T  A  N  R  D  G  R  D  Y  F  I  N  |  H  M  T  Q  A  I  P      p.60

          .         .         .         .         .         .       g.476337
 TTTGACGACCCTCGGTTAGAGAGCTGCCAAATCATCCCTCCGGCTCCTCGGAAGGTGGAG       c.240
 F  D  D  P  R  L  E  S  C  Q  I  I  P  P  A  P  R  K  V  E         p.80

          .         .         .         .         .         .       g.476397
 ATGAGAAGGGACCCCGTGCTGGGATTTGGTTTTGTGGCAGGCAGTGAAAAGCCAGTGGTC       c.300
 M  R  R  D  P  V  L  G  F  G  F  V  A  G  S  E  K  P  V  V         p.100

          .          | 04        .         .         .         .    g.481354
 GTTCGCTCAGTAACACCAG | GTGGCCCCTCTGAAGGCAAGCTGATCCCGGGAGATCAGATT    c.360
 V  R  S  V  T  P  G |   G  P  S  E  G  K  L  I  P  G  D  Q  I      p.120

          .         .         .         .         .         .       g.481414
 GTAATGATTAATGATGAACCGGTCAGCGCTGCACCCAGAGAGCGGGTCATCGATCTGGTC       c.420
 V  M  I  N  D  E  P  V  S  A  A  P  R  E  R  V  I  D  L  V         p.140

    | 05     .         .         .         .         | 06         . g.550029
 AG | AAGCTGCAAAGAATCGATACTCCTCACTGTCATTCAGCCTTACCCT | TCTCCCAAATCA c.480
 R  |  S  C  K  E  S  I  L  L  T  V  I  Q  P  Y  P   | S  P  K  S   p.160

          .         .         .         .         .         .       g.550089
 GCATTTATTAGTGCTGCAAAAAAGGCAAGATTAAAGTCCAATCCTGTCAAAGTACGCTTC       c.540
 A  F  I  S  A  A  K  K  A  R  L  K  S  N  P  V  K  V  R  F         p.180

          .         .         .    | 07    .         .         .    g.552658
 TCTGAGGAGGTCATCATCAACGGCCAAGTGTCG | GAAACTGTTAAGGACAACTCACTTCTT    c.600
 S  E  E  V  I  I  N  G  Q  V  S   | E  T  V  K  D  N  S  L  L      p.200

          .         .         .         .         .         .       g.552718
 TTTATGCCAAATGTTTTGAAAGTCTATCTGGAAAATGGGCAGACCAAATCATTTCGTTTT       c.660
 F  M  P  N  V  L  K  V  Y  L  E  N  G  Q  T  K  S  F  R  F         p.220

          .         .  | 08      .         .         .         .    g.556768
 GACTGCAGCACTTCCATTAAG | GATGTCATCTTAACCCTTCAAGAGAAGCTCTCCATCAAA    c.720
 D  C  S  T  S  I  K   | D  V  I  L  T  L  Q  E  K  L  S  I  K      p.240

          .         .         .         .         .         .       g.556828
 GGCATTGAACACTTCTCTCTCATGCTGGAGCAGAGGACAGAAGGGGCTGGAACGAAGCTG       c.780
 G  I  E  H  F  S  L  M  L  E  Q  R  T  E  G  A  G  T  K  L         p.260

          .         .         .    | 09    .         .         .    g.560896
 CTCTTGCTTCATGAACAGGAGACTCTAACTCAG | GTGACACAGAGGCCCAGCTCCCATAAG    c.840
 L  L  L  H  E  Q  E  T  L  T  Q   | V  T  Q  R  P  S  S  H  K      p.280

          .         .         .         .         .         .       g.560956
 ATGAGATGTCTTTTCCGAATTAGCTTCGTCCCAAAAGATCCAATTGACCTTTTAAGGAGA       c.900
 M  R  C  L  F  R  I  S  F  V  P  K  D  P  I  D  L  L  R  R         p.300

          .         .         .    | 10    .         .         .    g.568435
 GATCCAGTTGCTTTCGAGTATCTCTATGTTCAG | AGTTGTAACGATGTGGTTCAGGAGCGA    c.960
 D  P  V  A  F  E  Y  L  Y  V  Q   | S  C  N  D  V  V  Q  E  R      p.320

          .         .         .         .         .         .       g.568495
 TTTGGGCCGGAGCTGAAATATGACATAGCCCTGCGGCTGGCCGCATTACAAATGTACATT       c.1020
 F  G  P  E  L  K  Y  D  I  A  L  R  L  A  A  L  Q  M  Y  I         p.340

          .         .         .         .         . | 11       .    g.570903
 GCAACCGTTACCACCAAGCAAACGCAGAAAATCTCCCTCAAATACATCGA | AAAAGAATGG    c.1080
 A  T  V  T  T  K  Q  T  Q  K  I  S  L  K  Y  I  E  |  K  E  W      p.360

          .         .         .         .         .         .       g.570963
 GGATTAGAGACTTTTCTTCCCTCTGCTGTGCTGCAAAGCATGAAAGAGAAGAACATAAAG       c.1140
 G  L  E  T  F  L  P  S  A  V  L  Q  S  M  K  E  K  N  I  K         p.380

          .         .         .         .         .        | 12.    g.573363
 AAAGCACTTTCACACCTTGTCAAAGCAAATCAAAACTTGGTACCACCGGGTAAAAAG | CTC    c.1200
 K  A  L  S  H  L  V  K  A  N  Q  N  L  V  P  P  G  K  K   | L      p.400

          .         .         .         .         .         .       g.573423
 TCTGCACTACAAGCCAAGGTCCATTATCTCAAGTTCCTCAGTGACCTACGATTGTATGGG       c.1260
 S  A  L  Q  A  K  V  H  Y  L  K  F  L  S  D  L  R  L  Y  G         p.420

          .         .        | 13.         .         .         .    g.574036
 GGCCGTGTGTTCAAGGCAACATTAGTG | CAGGCAGAAAAGCGCTCGGAAGTGACTCTCCTG    c.1320
 G  R  V  F  K  A  T  L  V   | Q  A  E  K  R  S  E  V  T  L  L      p.440

          .         .         .         .         .         .       g.574096
 GTTGGGCCCCGGTATGGCATAAGCCATGTCATCAACACCAAAACCAATCTGGTGGCTCTT       c.1380
 V  G  P  R  Y  G  I  S  H  V  I  N  T  K  T  N  L  V  A  L         p.460

          .         .         .         .         .         .       g.574156
 TTAGCCGACTTTAGCCACGTCAACAGGATCGAAATGTTTTCCGAGGAGGAGAGCTTGGTG       c.1440
 L  A  D  F  S  H  V  N  R  I  E  M  F  S  E  E  E  S  L  V         p.480

          .         .         . | 14       .         .         .    g.576963
 CGGGTAGAACTCCACGTGCTAGATGTGAAG | CCTATCACGCTTCTGATGGAATCCTCAGAT    c.1500
 R  V  E  L  H  V  L  D  V  K   | P  I  T  L  L  M  E  S  S  D      p.500

          .         .         .         .         .         .       g.577023
 GCCATGAACCTGGCCTGCTTGACGGCTGGATACTACCGGCTGCTTGTTGATTCCAGGAGG       c.1560
 A  M  N  L  A  C  L  T  A  G  Y  Y  R  L  L  V  D  S  R  R         p.520

          .         .         .         .          | 15        .    g.582614
 TCGATATTTAACATGGCCAACAAGAAAAACACAGCGACCCAGGAAACAG | GACCTGAAAAC    c.1620
 S  I  F  N  M  A  N  K  K  N  T  A  T  Q  E  T  G |   P  E  N      p.540

          .         .         .         .         .         .       g.582674
 AAGGGGAAGCATAACCTCCTTGGCCCAGATTGGAACTGTATACCCCAAATGACCACCTTT       c.1680
 K  G  K  H  N  L  L  G  P  D  W  N  C  I  P  Q  M  T  T  F         p.560

          .         .         .         .         .         .       g.582734
 ATTGGCGAAGGGGAACAAGAAGCCCAGATAACATACATAGATTCAAAGCAGAAGACGGTG       c.1740
 I  G  E  G  E  Q  E  A  Q  I  T  Y  I  D  S  K  Q  K  T  V         p.580

          .         .         .         .         .         .       g.582794
 GAGATCACAGACAGCACCATGTGTCCAAAAGAGCACCGGCACTTGTACATAGACAATGCC       c.1800
 E  I  T  D  S  T  M  C  P  K  E  H  R  H  L  Y  I  D  N  A         p.600

          .         .         .         .         .         .       g.582854
 TATAGTTCAGATGGACTTAACCAGCAGCTGAGCCAGCCCGGGGAGGCCCCCTGTGAGGCA       c.1860
 Y  S  S  D  G  L  N  Q  Q  L  S  Q  P  G  E  A  P  C  E  A         p.620

          .         .         .         .         .         .       g.582914
 GACTACAGAAGTCTAGCTCAGCGGTCCCTATTGACCCTCTCAGGACCAGAAACTCTGAAG       c.1920
 D  Y  R  S  L  A  Q  R  S  L  L  T  L  S  G  P  E  T  L  K         p.640

          .         .         .         .         .         .       g.582974
 AAAGCACAGGAATCTCCGAGAGGAGCTAAAGTGTCCTTTATTTTTGGAGACTTCGCCTTG       c.1980
 K  A  Q  E  S  P  R  G  A  K  V  S  F  I  F  G  D  F  A  L         p.660

          .         .         .         .         .         .       g.583034
 GATGATGGTATTAGTCCCCCAACCCTTGGCTATGAAACGCTACTAGATGAGGGTCCTGAA       c.2040
 D  D  G  I  S  P  P  T  L  G  Y  E  T  L  L  D  E  G  P  E         p.680

          .         .         .         .         .         .       g.583094
 ATGCTGGAGAAGCAGAGAAATCTCTACATTGGCAGTGCCAATGACATGAAGGGCCTGGAT       c.2100
 M  L  E  K  Q  R  N  L  Y  I  G  S  A  N  D  M  K  G  L  D         p.700

          .         .         .         .         .         .       g.583154
 CTCACTCCAGAGGCAGAGGGCATCCAGTTTGTGGAAAATTCTGTTTATGCAAACATAGGC       c.2160
 L  T  P  E  A  E  G  I  Q  F  V  E  N  S  V  Y  A  N  I  G         p.720

          .         .         .         .         .         .       g.583214
 GATGTGAAGAGCTTCCAGGCCGCGGAGGGGATCGAGGAACCCCTCTTGCATGACATCTGT       c.2220
 D  V  K  S  F  Q  A  A  E  G  I  E  E  P  L  L  H  D  I  C         p.740

          .         .         .         .         .         .       g.583274
 TATGCAGAAAACACTGATGACGCGGAGGACGAGGACGAGGTGAGCTGCGAGGAGGACCTC       c.2280
 Y  A  E  N  T  D  D  A  E  D  E  D  E  V  S  C  E  E  D  L         p.760

          .         .         .         .         .         .       g.583334
 GTGGTGGGGGAGATGAACCAGCCGGCCATCCTCAACCTGTCTGGGTCAAGCGATGACATC       c.2340
 V  V  G  E  M  N  Q  P  A  I  L  N  L  S  G  S  S  D  D  I         p.780

          .         .         .         .         .         .       g.583394
 ATTGACCTCACATCCCTGCCCCCTCCAGAAGGTGATGACAATGAGGATGACTTCCTGTTG       c.2400
 I  D  L  T  S  L  P  P  P  E  G  D  D  N  E  D  D  F  L  L         p.800

          .         .         .         .         .         .       g.583454
 CGTTCCTTGAACATGGCCATTGCCGCACCCCCACCTGGCTTTAGAGACAGTTCAGATGAA       c.2460
 R  S  L  N  M  A  I  A  A  P  P  P  G  F  R  D  S  S  D  E         p.820

          .         .         .         .         .         .       g.583514
 GAGGACTCTCAGAGCCAGGCAGCTTCCTTCCCCGAGGACAAGGAGAAAGGCAGCAGCCTG       c.2520
 E  D  S  Q  S  Q  A  A  S  F  P  E  D  K  E  K  G  S  S  L         p.840

          .         .         .         .         .         .       g.583574
 CAAAATGATGAGATCCCCGTGTCCCTCATTGACGCTGTGCCCACCAGCGCCGAAGGCAAG       c.2580
 Q  N  D  E  I  P  V  S  L  I  D  A  V  P  T  S  A  E  G  K         p.860

          .         .         .         .         .         .       g.583634
 TGTGAGAAGGGACTGGATAATGCCGTCGTCTCCACGCTGGGAGCTCTAGAGGCTCTATCC       c.2640
 C  E  K  G  L  D  N  A  V  V  S  T  L  G  A  L  E  A  L  S         p.880

          .         .         .     | 16   .         .         .    g.584061
 GTGTCAGAAGAACAGCAGACCAGTGACAATTCAG | GTGTAGCCATCTTGCGGGCTTATAGT    c.2700
 V  S  E  E  Q  Q  T  S  D  N  S  G |   V  A  I  L  R  A  Y  S      p.900

          .         .         .         .         .         .       g.584121
 CCTGAGTCTTCGTCAGACTCGGGCAATGAAACTAACTCTTCTGAAATGACTGAGAGTTCT       c.2760
 P  E  S  S  S  D  S  G  N  E  T  N  S  S  E  M  T  E  S  S         p.920

          .         .         .         .         .         .       g.584181
 GAACTGGCCACAGCACAAAAACAGTCAGAAAACCTCTCCCGCATGTTCTTGGCCACTCAC       c.2820
 E  L  A  T  A  Q  K  Q  S  E  N  L  S  R  M  F  L  A  T  H         p.940

          .         .         .         .         .         .       g.584241
 GAAGGCTACCACCCCCTTGCAGAAGAGCAGACCGAGTTCCCGGCCTCCAAGACCCCCGCT       c.2880
 E  G  Y  H  P  L  A  E  E  Q  T  E  F  P  A  S  K  T  P  A         p.960

          .         .         .         .         .         .       g.584301
 GGGGGCTTGCCTCCAAAGTCCTCGCACGCCCTGGCTGCTAGGCCAGCAACCGACCTCCCG       c.2940
 G  G  L  P  P  K  S  S  H  A  L  A  A  R  P  A  T  D  L  P         p.980

          .         .         .         .         .         .       g.584361
 CCCAAAGTTGTGCCTTCCAAGCAGTTACTTCACTCAGACCACATGGAGATGGAGCCTGAA       c.3000
 P  K  V  V  P  S  K  Q  L  L  H  S  D  H  M  E  M  E  P  E         p.1000

          .         .         .         .         .         .       g.584421
 ACTATGGAGACTAAGTCGGTCACTGACTATTTTAGCAAACTGCACATGGGGTCGGTGGCA       c.3060
 T  M  E  T  K  S  V  T  D  Y  F  S  K  L  H  M  G  S  V  A         p.1020

          .         .         .         .         .         .       g.584481
 TACTCCTGCACTAGCAAAAGGAAAAGCAAGCTGGCCGATGGTGAGGGGAAGGCACCCCCT       c.3120
 Y  S  C  T  S  K  R  K  S  K  L  A  D  G  E  G  K  A  P  P         p.1040

          .         .         .         .         .         .       g.584541
 AATGGGAACACAACAGGAAAAAAACAGCAGGGGACCAAAACGGCAGAGATGGAGGAGGAG       c.3180
 N  G  N  T  T  G  K  K  Q  Q  G  T  K  T  A  E  M  E  E  E         p.1060

          .         .         .         .         .         .       g.584601
 GCCAGTGGTAAATTTGGTACTGTGTCTTCACGAGACAGTCAACACCTGAGCACTTTTAAT       c.3240
 A  S  G  K  F  G  T  V  S  S  R  D  S  Q  H  L  S  T  F  N         p.1080

          .         .         .         .         .         .       g.584661
 CTGGAGAGAACTGCCTTTCGCAAGGACAGTCAAAGATGGTATGTGGCCACTGAAGGTGGG       c.3300
 L  E  R  T  A  F  R  K  D  S  Q  R  W  Y  V  A  T  E  G  G         p.1100

          .         .         .         .         .         .       g.584721
 ATGGCTGAAAAAAGTGGATTAGAAGCAGCAACAGGGAAAACCTTTCCAAGAGCTTCTGGT       c.3360
 M  A  E  K  S  G  L  E  A  A  T  G  K  T  F  P  R  A  S  G         p.1120

          .         .         .         .         .         .       g.584781
 CTTGGGGCAAGGGAGGCCGAAGGGAAGGAAGAAGGAGCTCCTGATGGAGAAACCAGTGAT       c.3420
 L  G  A  R  E  A  E  G  K  E  E  G  A  P  D  G  E  T  S  D         p.1140

          .         .         .         .         .         .       g.584841
 GGCTCAGGACTTGGTCAAGGGGACCGCTTCTTAACTGACGTGACCTGTGCATCTTCAGCC       c.3480
 G  S  G  L  G  Q  G  D  R  F  L  T  D  V  T  C  A  S  S  A         p.1160

          .         .         .         .         .         .       g.584901
 AAAGACTTAGATAACCCAGAGGACGCTGACTCGTCCACCTGCGACCATCCTTCCAAGCTT       c.3540
 K  D  L  D  N  P  E  D  A  D  S  S  T  C  D  H  P  S  K  L         p.1180

          .         .         .         .         .         .       g.584961
 CCTGAGGCTGATGAGAGTGTGGCCCGCCTTTGTGACTACCACTTGGCCAAGCGGATGTCA       c.3600
 P  E  A  D  E  S  V  A  R  L  C  D  Y  H  L  A  K  R  M  S         p.1200

          .         .         .         .         .         .       g.585021
 TCACTGCAAAGCGAGGGCCATTTTTCTCTGCAGAGCTCCCAAGGCTCTTCAGTGGATGCA       c.3660
 S  L  Q  S  E  G  H  F  S  L  Q  S  S  Q  G  S  S  V  D  A         p.1220

          .         .         .         .         .         .       g.585081
 GGCTGTGGCACAGGCAGCAGTGGCAGTGCCTGTGCCACACCCGTGGAGTCGCCGCTCTGC       c.3720
 G  C  G  T  G  S  S  G  S  A  C  A  T  P  V  E  S  P  L  C         p.1240

          .         .         .         .         .         .       g.585141
 CCCTCCCTGGGGAAGCACTTGATTCCTGACGCTTCTGGGAAAGGCGTGAATTACATTCCT       c.3780
 P  S  L  G  K  H  L  I  P  D  A  S  G  K  G  V  N  Y  I  P         p.1260

          .         .         .         .         .         .       g.585201
 TCAGAGGAGAGAGCCCCTGGGCTTCCCAACCACGGAGCCACCTTTAAGGAACTGCACCCA       c.3840
 S  E  E  R  A  P  G  L  P  N  H  G  A  T  F  K  E  L  H  P         p.1280

          .         .         .         .         .         .       g.585261
 CAGACAGAAGGGATGTGTCCACGGATGACAGTGCCTGCTCTGCACACAGCCATTAACACC       c.3900
 Q  T  E  G  M  C  P  R  M  T  V  P  A  L  H  T  A  I  N  T         p.1300

          .         .         .         .         .         .       g.585321
 GAACCCCTGTTTGGCACATTGAGAGATGGATGCCATCGGCTCCCCAAGATTAAGGAAACC       c.3960
 E  P  L  F  G  T  L  R  D  G  C  H  R  L  P  K  I  K  E  T         p.1320

      | 17                                                          g.587119
 ACAG | TGTAG                                                       c.3969
 T  V |   X                                                         p.1322

          .         .         .         .         .         .       g.587179
 ctttgacagagcctgggaaggagagacgaggaggcatgccttcagcttggtctcaacatc       c.*60

          .         .         .         .         .         .       g.587239
 ctgaagctgatcccatcctgctaccatcaaacattcactcggaatcaaaggtgccaattc       c.*120

          .         .         .         .         .         .       g.587299
 caaatcaagaccctaatgatttctcccaagcaaatcaggcatacggagaggctgtgagct       c.*180

          .         .         .         .         .         .       g.587359
 ggcggccaccggatctgagaggggggagcctcaggacacctcccagccagaaggctctga       c.*240

          .         .         .         .         .         .       g.587419
 gacatagcagcagtatcctctccggatctgtcgatttggagaccttccgagagagaacca       c.*300

          .         .         .         .         .         .       g.587479
 agggtgcagtcagcttaaagtgtccaggcatcacagaagcacaggaggccagttctgaaa       c.*360

          .         .         .         .         .         .       g.587539
 ggcgagcagaactccccctggggaggaagctcaccaaaagtttttcccaaagctcaatgc       c.*420

          .         .         .         .         .         .       g.587599
 acttgagctctgaggggaggtttcacaaaaggtccccagtggctcataaagactcaaagc       c.*480

          .         .         .         .         .         .       g.587659
 tgtataggacattacccttgcggaagctggagggcagcaattggagatgccggggaccct       c.*540

          .         .         .         .         .         .       g.587719
 tcagctattgcttcctgaaccgagggcaggatgaagatggtgaggaagaagaggagaggg       c.*600

          .         .         .         .         .         .       g.587779
 gagaggccaccgtccaggtctcttgcctctatagaccacagatgactcaagccatgccag       c.*660

          .         .         .         .         .         .       g.587839
 aaccaagcagcccatgcctggctgtggcgattcagaagcaacgaggggagctatccagag       c.*720

          .         .         .         .         .         .       g.587899
 ggtcagtgctgaaggtctgggcagaagacctgcgagacccagatgacttggacttcagca       c.*780

          .         .         .         .         .         .       g.587959
 acctggcttttgatgcccggattgcaagaataaatgccctaaaggagagcacatatgcaa       c.*840

          .         .         .         .         .         .       g.588019
 tgcctgatgggttccttgcagcccaaaatgatgccaatgagctgctctgtctcgtcaggg       c.*900

          .         .         .         .         .         .       g.588079
 caaccaaggagaagagggaggagtcacgccctgaagcgtacgaccttacactttctcagt       c.*960

          .         .         .         .         .         .       g.588139
 acaagcaactgttatccattgagtccagacagttgggaagtgcctgtaggaaaatggcga       c.*1020

          .         .         .         .         .         .       g.588199
 tggctgagaaaagcccggaggagatgctcctagctatgacttccagctttcaagtgctct       c.*1080

          .         .         .         .         .         .       g.588259
 gttgcctaacagaagcttgcatgcgattagttaaagtcgtgaactcagaaacacagcggc       c.*1140

          .         .         .         .         .         .       g.588319
 aggaaattgtagggaagatcgatgaagtggtcataaattacatttgtctactgaaagctg       c.*1200

          .         .         .         .         .         .       g.588379
 ccgaagcagccactggaaagaaccctggggaccctaatgttggactctcggcgcgacact       c.*1260

          .         .         .         .         .         .       g.588439
 caaccaccatggccgctctcgtaagcacactgacacgttctctcaagaggcttttaaaca       c.*1320

          .         .         .         .         .         .       g.588499
 aataaatatggaagtcacgtcataatctacctttgcaaagccatacatgaacttttattt       c.*1380

          .         .         .         .         .         .       g.588559
 actttgtgtgtatgatgaacagatgtctcctttcttctctctgtatattttgttatttta       c.*1440

          .         .         .         .         .         .       g.588619
 tataaaataggagataaaagtcacattgatgaaatgttgaaatgtactaatcagatgtat       c.*1500

          .         .         .         .         .         .       g.588679
 tctgtttatattatacatatatatacacgtaaaagaaatatccaagaaagtgatgacatt       c.*1560

          .         .         .         .         .         .       g.588739
 tggctatttttcatatagttaaaactccaggtatatgatgtgaaattttaaattctacca       c.*1620

          .         .         .         .         .         .       g.588799
 tgttagagcaaaacaatgaatcctatcccctttctttccaagtagctacttggaaaccat       c.*1680

          .         .         .         .         .         .       g.588859
 atcattcatatttagaagtaaaacacaaaacaaaaaagagagagaaaagaaaagaaatca       c.*1740

          .         .         .         .         .         .       g.588919
 caatgtatataaaacagtacttatgttttaaaattatgatttttaagcattggaaatagc       c.*1800

          .         .         .         .         .         .       g.588979
 aaaaagacatttaaaattcaagaagctattatgaattactagagaatatatctgtaataa       c.*1860

          .         .         .         .         .         .       g.589039
 attaattttttgctcatagtatttggttactggatgctttcttccaagaatcccacatat       c.*1920

          .         .         .         .         .         .       g.589099
 ttaatttgggtttttgctactggggctacaaattggtggggatggattctactgtgtcag       c.*1980

          .         .         .         .         .         .       g.589159
 cacaaatgctcttcacagtggttctagcatttaaaaaacttcccggggagaagaacagag       c.*2040

          .         .         .         .         .         .       g.589219
 gggatgatgggcagtttcctaggtaacacctagagttatagaatatctcattacataaaa       c.*2100

          .         .         .         .         .         .       g.589279
 tgtatggaattaataataccaaaattaattatttgatggaaagatctgctttgactaaat       c.*2160

          .         .         .         .         .         .       g.589339
 gtcaaaaatctgcaaaccaaagacattatcttcccctcatcccaactcaactacgaaact       c.*2220

          .         .         .         .         .         .       g.589399
 taaaattccctttagagtgataggacatttagtaaagtatttgcaaacttaaaaaaagga       c.*2280

          .         .         .         .         .         .       g.589459
 acatttaatgatcatcaaaattaagtacagattcagtaatgtagaccagaccacacacca       c.*2340

          .         .         .         .         .         .       g.589519
 gcacctgtgagtctcatctcagatcacagctctcagcatagggcttcatgcatcaccgcc       c.*2400

          .         .         .         .         .         .       g.589579
 tctacagaggctaaggctgccagtcaaatttggaattatagcgtagtactgggacaaaat       c.*2460

          .         .         .         .         .         .       g.589639
 ctcaaatcttggatgttccagaaaatcagggagagatggctactgtaatcatgggagcca       c.*2520

          .         .         .         .         .         .       g.589699
 tgagtaaatagttaagtatttattaaataaatacttaatctggattggctgataaaaata       c.*2580

          .         .         .         .         .         .       g.589759
 tgaaatctgaaaaaaaaaagaaagaaatggaagtggtatatttgaccagttcaagtgaaa       c.*2640

          .         .         .         .         .         .       g.589819
 ccaatggaatgcaaagaactttccaggactgtcacatctctaaaagtaccctgcagtcat       c.*2700

          .         .         .         .         .         .       g.589879
 aaaataaaatcgatatgtatatatgtatttcctgggtcattcagtgctcaagttacatgc       c.*2760

          .         .         .         .         .         .       g.589939
 actcctacttagacaggtggctccttaagaacatgatgggagtacaccaggtgcaaatat       c.*2820

          .         .         .         .         .         .       g.589999
 ttctacttttgtagcctgctgagaaggagtcataacacagtccacaattgcaatctctct       c.*2880

          .         .         .         .         .         .       g.590059
 ctagtcagccattccacagggactcaacaacaaaagccgcacgtggttatggatggcagc       c.*2940

          .         .         .         .         .         .       g.590119
 aaaggaaaggagtttaggtgtgtgttattataaataatgtttaactaaataataaaacat       c.*3000

          .         .         .         .         .         .       g.590179
 tatttcattacaattataattataaatattggtgttttgatattgagagatattagtggt       c.*3060

          .         .         .         .         .         .       g.590239
 gtttactgtggaaaatcttagtaaatatcattctgtgtactaaaatcctaacctattaat       c.*3120

          .         .         .         .         .         .       g.590299
 aggatgtgtgccctatgtcagacagtgtgctaagcatattaactatattatctcatttaa       c.*3180

          .         .         .         .         .         .       g.590359
 tcatcacaacaatctgctggtttggacactattctctctggaggcaatatggatgagttc       c.*3240

          .         .         .         .         .         .       g.590419
 ttacggatatggggtttggggtcagaaacatcttgattaaaattttgactctgccatttt       c.*3300

          .         .         .         .         .         .       g.590479
 ctagcccttttatgttgggaaagctactttttctagtctcaatttcctcataataaaatg       c.*3360

          .         .         .         .         .         .       g.590539
 aaaatcaattataagatcgatttccatagggttgtcatgagttttgagtaaaaatgtgta       c.*3420

          .         .         .         .         .         .       g.590599
 tgtaaagttcttaccacaatacctggcagagagtaagtattcaattaatgttagctatta       c.*3480

          .         .         .         .         .         .       g.590659
 ttatcatcataatcgttgtgttaaatatattgcccaagataatatgtgggggaatgtttg       c.*3540

          .         .         .         .         .         .       g.590719
 ttttatatgcatattgtatcctgactgtgtgcagaacacattatgtgtattgcatatatg       c.*3600

          .         .         .         .         .         .       g.590779
 taaaagaagtgtacaaggaagtggccatccttgttcaagttacgtatctagttagaacaa       c.*3660

          .         .         .         .         .         .       g.590839
 cttcccagtccattggagttctttgagaagcctcagggaagtagctctgggtccttctaa       c.*3720

          .         .         .         .         .         .       g.590899
 tcaacctcccattactgcgccagtaagtttctgtttcttataaataaactctttgctatt       c.*3780

          .         .         .         .         .         .       g.590959
 cagaaaacctcaaggggcccccacattcactaagcatggggctcctaactggggtccagg       c.*3840

          .         .         .         .         .         .       g.591019
 tccatagagtgtaggaagaacatattagaacaatacttgtgcttatttttatctagcttt       c.*3900

          .         .         .         .         .         .       g.591079
 tttatgtttgtgtatgttttataatggcataatagtacaatggtacatgtacataatttt       c.*3960

          .         .         .                                     g.591109
 aaataaataaatgaatgaatgaataaataa                                     c.*3990

 (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 FERM and PDZ domain containing 4 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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